Short stature: Difference between revisions

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==Overview==
==Overview==
Short stature is defined as a height more than 2 standard deviations below the mean for chronological age and sex. It corresponds to a linear height of less than the 3rd percentile. The most common causes of short stature are normal variants of growth like familial short stature and constitutional delay of growth and puberty.
Short stature is defined as a height more than 2 standard deviations below the mean for chronological [[age]] and [[Sex-determination system|sex]]. It corresponds to a linear height of less than the 3rd [[percentile]]. The most common causes of short stature are normal variants of growth like [[familial short stature]] and constitutional delay of [[growth]] and [[puberty]].


==Historical Perspective==
==Historical Perspective==
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Based on the etiology, short stature may be classified into normal variants of growth or systemic pathological causes.  
Based on the etiology, short stature may be classified into normal variants of growth or systemic pathological causes.  
Normal variants of growth include- <ref name="pmid24731744">{{cite journal| author=Rogol AD, Hayden GF| title=Etiologies and early diagnosis of short stature and growth failure in children and adolescents. | journal=J Pediatr | year= 2014 | volume= 164 | issue= 5 Suppl | pages= S1-14.e6 | pmid=24731744 | doi=10.1016/j.jpeds.2014.02.027 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24731744  }} </ref>
Normal variants of growth include- <ref name="pmid24731744">{{cite journal| author=Rogol AD, Hayden GF| title=Etiologies and early diagnosis of short stature and growth failure in children and adolescents. | journal=J Pediatr | year= 2014 | volume= 164 | issue= 5 Suppl | pages= S1-14.e6 | pmid=24731744 | doi=10.1016/j.jpeds.2014.02.027 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24731744  }} </ref>
* Familial short stature
 
* Constitutional delay of growth and puberty
*[[Familial]] short stature
* Small for gestational age with catch-up growth
*Constitutional delay of [[growth]] and [[puberty]]
* Idiopathic short stature
*[[Small for gestational age]] with catch-up growth
*[[Idiopathic]] short stature
 
For more information about the pathological etiology, refer to causes below.
For more information about the pathological etiology, refer to causes below.


==Pathophysiology==
==Pathophysiology==
The exact pathogenesis of short stature is an interplay of many factors. Linear growth is determined by the factors affecting the growth plate cartilage of bones.<ref name="pmid26437621">{{cite journal| author=Baron J, Sävendahl L, De Luca F, Dauber A, Phillip M, Wit JM | display-authors=etal| title=Short and tall stature: a new paradigm emerges. | journal=Nat Rev Endocrinol | year= 2015 | volume= 11 | issue= 12 | pages= 735-46 | pmid=26437621 | doi=10.1038/nrendo.2015.165 | pmc=5002943 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26437621  }} </ref>
The exact pathogenesis of short stature is an interplay of many factors. Linear growth is determined by the factors affecting the growth plate cartilage of bones. <ref name="pmid2873688">{{cite journal| author=Rimoin DL, Borochowitz Z, Horton WA| title=Short stature--physiology and pathology. | journal=West J Med | year= 1986 | volume= 144 | issue= 6 | pages= 710-21 | pmid=2873688 | doi= | pmc=1306754 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2873688  }} </ref><ref name="pmid26437621">{{cite journal| author=Baron J, Sävendahl L, De Luca F, Dauber A, Phillip M, Wit JM | display-authors=etal| title=Short and tall stature: a new paradigm emerges. | journal=Nat Rev Endocrinol | year= 2015 | volume= 11 | issue= 12 | pages= 735-46 | pmid=26437621 | doi=10.1038/nrendo.2015.165 | pmc=5002943 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26437621  }} </ref>
* Genetic factors- GH gene, SHOX gene variants, Pit-gene mutations, Turner syndrome, Achondroplasia (FGF)<ref name="pmid16618986">{{cite journal| author=Hanew K, Tachibana K, Yokoya S, Fujieda K, Tanaka T, Igarashi Y | display-authors=etal| title=Clinical characteristics, etiologies and pathophysiology of patients with severe short stature with severe GH deficiency: questionnaire study on the data registered with the foundation for growth science, Japan. | journal=Endocr J | year= 2006 | volume= 53 | issue= 2 | pages= 259-65 | pmid=16618986 | doi=10.1507/endocrj.53.259 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16618986  }} </ref>  
 
* Hormones that promote growth-
*Genetic factors- [[Growth hormone|GH gene]] (17q22), [[SHOX2|SHOX]] gene variants, Pit-gene mutations, [[Turner syndrome]], [[Achondroplasia]] (FGF)<ref name="pmid16618986">{{cite journal| author=Hanew K, Tachibana K, Yokoya S, Fujieda K, Tanaka T, Igarashi Y | display-authors=etal| title=Clinical characteristics, etiologies and pathophysiology of patients with severe short stature with severe GH deficiency: questionnaire study on the data registered with the foundation for growth science, Japan. | journal=Endocr J | year= 2006 | volume= 53 | issue= 2 | pages= 259-65 | pmid=16618986 | doi=10.1507/endocrj.53.259 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16618986  }} </ref>
** Growth hormone (GH)
*Hormones that promote growth-
** Thyroid hormone
**[[Growth hormone]] (GH)
** Insulin-like growth factor (IGF-1)
**[[Thyroid hormone]]
** Testosterone
**[[Insulin-like growth factor]] (IGF-1)
* Hormones that inhibit growth plate cartilage-
**[[Testosterone]]
** Glucocorticoids
*Hormones that inhibit growth plate cartilage-
** Estrogen <ref name="pmid24708243">{{cite journal| author=Nilsson O, Weise M, Landman EB, Meyers JL, Barnes KM, Baron J| title=Evidence that estrogen hastens epiphyseal fusion and cessation of longitudinal bone growth by irreversibly depleting the number of resting zone progenitor cells in female rabbits. | journal=Endocrinology | year= 2014 | volume= 155 | issue= 8 | pages= 2892-9 | pmid=24708243 | doi=10.1210/en.2013-2175 | pmc=4098010 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24708243  }} </ref>
**[[Glucocorticoids]]
* Paracrine factors- Fibroblast growth factor, parathyroid hormone-related protein
**[[Estrogen]] <ref name="pmid24708243">{{cite journal| author=Nilsson O, Weise M, Landman EB, Meyers JL, Barnes KM, Baron J| title=Evidence that estrogen hastens epiphyseal fusion and cessation of longitudinal bone growth by irreversibly depleting the number of resting zone progenitor cells in female rabbits. | journal=Endocrinology | year= 2014 | volume= 155 | issue= 8 | pages= 2892-9 | pmid=24708243 | doi=10.1210/en.2013-2175 | pmc=4098010 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24708243  }} </ref>
* Extracellular matrix proteins- Collagen, prteoglycans
*Paracrine factors- [[Fibroblast growth factor]], [[parathyroid hormone-related protein]]
*Extracellular [[matrix]] [[Protein|proteins]]- [[Collagen]], [[Proteoglycan|proteoglycans]]


==Causes==
==Causes==
Disease name] may be caused by [cause1], [cause2], or [cause3].
The most common causes of short stature are the normal variants of growth- familial short stature and constitutional delay of [[growth]] and [[puberty]].
 
Normal variants of growth include-
OR
 
Common causes of [disease] include [cause1], [cause2], and [cause3].
 
OR
 
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].


OR
*Familial short stature
*Constitutional delay of growth and puberty
*[[Idiopathic]] short stature
*[[Small for gestational age]] [[Infant|infants]] with catch-up growth


The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click [[Pericarditis causes#Overview|here]].
Pathological causes of short stature include- <ref name="pmid24353507">{{cite journal| author=Waqar Rabbani M, Imran Khan W, Bilal Afzal A, Rabbani W| title=Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan. | journal=Pak J Med Sci | year= 2013 | volume= 29 | issue= 1 | pages= 53-7 | pmid=24353507 | doi=10.12669/pjms.291.2688 | pmc=3809182 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24353507  }} </ref>


==Differentiating ((Page name)) from other Diseases==
*[[Malnutrition]]
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
*Treatment with [[Glucocorticoids]]
*Endocrine causes-
**[[Growth hormone deficiency]]
**[[Hypothyroidism]]
**[[Cushing's syndrome]]
**[[Rickets]] ([[vitamin D deficiency]])
**[[Diabetes mellitus type 1|Type I diabetes mellitus]]
*[[Genetics|Genetic]] syndromes
**[[Turner syndrome]]
**[[Noonan syndrome]]
**[[Prader-Willi syndrome]]
**[[Russell- Silver syndrome]]
**[[Achondroplasia]]
*Systemic diseases-
**Gastrointestinal causes- [[Celiac disease]], [[Inflammatory bowel disease]] ([[Crohn's disease]]), [[Malabsorption|Malabsorption syndromes]]
**[[Pulmonary]] causes- [[Cystic fibrosis]], [[Obstructive airway diseases|obstructive]] diseases like [[bronchial asthma]]
**Cardiology causes- Untreated [[Congenital heart disease|congenital heart diseases]] <ref name="pmid1623850">{{cite journal| author=Thommessen M, Heiberg A, Kase BF| title=Feeding problems in children with congenital heart disease: the impact on energy intake and growth outcome. | journal=Eur J Clin Nutr | year= 1992 | volume= 46 | issue= 7 | pages= 457-64 | pmid=1623850 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1623850  }} </ref>
**[[Chronic renal failure|Chronic Kidney Disease]]
**[[Malignancy]]
**Rheumatological causes- [[Idiopathic juvenile arthritis]]<ref name="pmid29940586">{{cite journal| author=de Zegher F, Reynaert N, De Somer L, Wouters C, Roelants M| title=Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies. | journal=Horm Res Paediatr | year= 2018 | volume= 90 | issue= 5 | pages= 337-343 | pmid=29940586 | doi=10.1159/000489778 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29940586  }} </ref>
**Hematological causes- [[Sickle-cell disease|Sickle cell anemia]]
**[[Immunodeficiency]]- Immune deficiencies, [[HIV AIDS|HIV infection]]
**Infectious diseases- [[Parasitism|Parasitic infestations]] like [[Ascariasis]], [[Pinworm|Enterobius]].
**Environmental pollutants- [[Lead]] exposure <ref name="pmid24790332">{{cite journal| author=Kaji M, Nishi Y| title=Lead and growth. | journal=Clin Pediatr Endocrinol | year= 2006 | volume= 15 | issue= 4 | pages= 123-8 | pmid=24790332 | doi=10.1297/cpe.15.123 | pmc=4004863 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24790332  }} </ref>


OR
==Differentiating familial short stature from constitutional delay==
 
<ref name="pmid7351094">{{cite journal| author=Lanes R, Lee PA, Plotnick LP, Kowarski AA, Migeon CJ| title=Are constitutional delay of growth and familial short stature different conditions? | journal=Clin Pediatr (Phila) | year= 1980 | volume= 19 | issue= 1 | pages= 31-3 | pmid=7351094 | doi=10.1177/000992288001900105 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7351094  }} </ref> <ref name="pmid23087852">{{cite journal| author=Soliman AT, De Sanctis V| title=An approach to constitutional delay of growth and puberty. | journal=Indian J Endocrinol Metab | year= 2012 | volume= 16 | issue= 5 | pages= 698-705 | pmid=23087852 | doi=10.4103/2230-8210.100650 | pmc=3475892 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23087852  }} </ref>
[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].
{| style="border: 2px solid #4479BA; align=" left"
! style="width: 100px; background: #4479BA;" |{{fontcolor|#FFF|Feature}}
! style="width: 100px; background: #4479BA;" |{{fontcolor|#FFF|Familial short stature}}
! style="width: 100px; background: #4479BA;" |{{fontcolor|#FFF|Constitutional delay}}
|-
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Parents' height
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Short
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Normal or average
|-
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Growth
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Normal
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Slow
|-
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Bone age
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Normal
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Delayed
|-
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Puberty
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Normal
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Delayed
|-
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Adult height
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Short
| style="padding: 0 5px; background: #F5F5F5; text-align: left;" |Normal
|-
|}
{{clear}}


==Epidemiology and Demographics==
==Epidemiology and Demographics==
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
The [[incidence]] of short stature according to its definition is approximately 2.5% i.e more than 2 standard deviations below the mean for chronological [[age]] and [[sex]].
 
The [[prevalence]] varies according to different [[environmental]] and [[genetic]] factors.
OR
 
In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
 
OR
 
In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.
 
 
 
Patients of all age groups may develop [disease name].
 
OR
 
The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
 
OR
 
[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
 
OR
 
[Chronic disease name] is usually first diagnosed among [age group].
 
OR
 
[Acute disease name] commonly affects [age group].
 
 
 
There is no racial predilection to [disease name].
 
OR
 
[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
 
 
 
[Disease name] affects men and women equally.
 
OR
 
[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.


According to a study by Lindsay et al, the [[prevalence]] of [[growth hormone]] deficiency in the United States is 1: 1348. <ref name="pmid8021781">{{cite journal| author=Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M| title=Utah Growth Study: growth standards and the prevalence of growth hormone deficiency. | journal=J Pediatr | year= 1994 | volume= 125 | issue= 1 | pages= 29-35 | pmid=8021781 | doi=10.1016/s0022-3476(94)70117-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8021781  }} </ref>


A study by Velayutham et al showed that the [[prevalence]] of [[short stature]] in school-going population in South India is 2.86%. <ref name="pmid29285442">{{cite journal| author=Velayutham K, Selvan SSA, Jeyabalaji RV, Balaji S| title=Prevalence and Etiological Profile of Short Stature among School Children in a South Indian Population. | journal=Indian J Endocrinol Metab | year= 2017 | volume= 21 | issue= 6 | pages= 820-822 | pmid=29285442 | doi=10.4103/ijem.IJEM_149_17 | pmc=5729667 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29285442  }} </ref>


The majority of [disease name] cases are reported in [geographical region].
According to a study by Mouzan et al, the [[prevalence]] of [[short stature]] ranged from 1.8% to 11.3% in males and 1.2% to 10.5% in females. <ref name="pmid21911988">{{cite journal| author=El Mouzan MI, Al Herbish AS, Al Salloum AA, Foster PJ, Al Omer AA, Qurachi MM| title=Prevalence of short stature in Saudi children and adolescents. | journal=Ann Saudi Med | year= 2011 | volume= 31 | issue= 5 | pages= 498-501 | pmid=21911988 | doi=10.4103/0256-4947.84628 | pmc=3183685 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21911988  }} </ref>


OR
There is no racial predilection to short stature.


[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
Males are more commonly affected by short stature due to [[growth hormone deficiency]].


==Risk Factors==
==Risk Factors==
There are no established risk factors for [disease name].
Common [[Risk factor|risk factors]] in the [[development]] of short stature include- <ref name="pmid8729259">{{cite journal| author=Amigo H, Bustos P| title=[Risk factors of short stature in Chilean school children from rural areas of high social vulnerability]. | journal=Arch Latinoam Nutr | year= 1995 | volume= 45 | issue= 2 | pages= 97-102 | pmid=8729259 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8729259  }} </ref><ref name="pmid31439925">{{cite journal| author=Matsumoto M, Nagano N, Awano H, Ohyama S, Fujioka K, Iwatani S | display-authors=etal| title=Incidence and Neonatal Risk factors of Short Stature and Growth Hormone treatment in Japanese Preterm Infants Born Small for Gestational Age. | journal=Sci Rep | year= 2019 | volume= 9 | issue= 1 | pages= 12238 | pmid=31439925 | doi=10.1038/s41598-019-48785-y | pmc=6706397 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31439925  }} </ref><ref name="pmid28634534">{{cite journal| author=Hussein A, Farghaly H, Askar E, Metwalley K, Saad K, Zahran A | display-authors=etal| title=Etiological factors of short stature in children and adolescents: experience at a tertiary care hospital in Egypt. | journal=Ther Adv Endocrinol Metab | year= 2017 | volume= 8 | issue= 5 | pages= 75-80 | pmid=28634534 | doi=10.1177/2042018817707464 | pmc=5467802 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28634534  }} </ref>
 
OR
 
The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].
 
OR


Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
*[[Genetic]] factors
 
*[[Environmental]] factors
OR
*[[Diet]]- undernutrition during [[pregnancy]], [[malnutrition]] of [[infants]]
 
*[[Low birth weight]]
Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.
*Low [[gestational age]] at birth


==Screening==
==Screening==
There is insufficient evidence to recommend routine screening for [disease/malignancy].
Linear [[height]] is measured serially and charted at every well-child visit. The [[growth]] pattern should be charted and height velocity must be noted.
 
The infancy-childhood-puberty mathematical model may be used to detect abnormalities.<ref name="pmid2683573">{{cite journal| author=Tse WY, Hindmarsh PC, Brook CG| title=The infancy-childhood-puberty model of growth: clinical aspects. | journal=Acta Paediatr Scand Suppl | year= 1989 | volume= 356 | issue=  | pages= 38-43; discussion 44-5 | pmid=2683573 | doi=10.1111/j.1651-2227.1989.tb11238.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2683573  }} </ref><ref name="pmid2801108">{{cite journal| author=Karlberg J| title=A biologically-oriented mathematical model (ICP) for human growth. | journal=Acta Paediatr Scand Suppl | year= 1989 | volume= 350 | issue=  | pages= 70-94 | pmid=2801108 | doi=10.1111/j.1651-2227.1989.tb11199.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2801108  }} </ref>
OR
 
According to the [guideline name], screening for [disease name] is not recommended.


OR
*[[Infancy]]- [[Nutrition]] dependent; rapid linear growth of about 30-35cm
 
*Childhood- [[Growth hormone]]-dependent; linear growth with constant height velocity
According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].
*[[Puberty]]- [[Sex steroids]] and [[growth hormone]]; [[pubertal growth spurt]] at around age 10 for girls and age 12 for boys. <ref name="pmid3875704">{{cite journal| author=Tanner JM, Davies PS| title=Clinical longitudinal standards for height and height velocity for North American children. | journal=J Pediatr | year= 1985 | volume= 107 | issue= 3 | pages= 317-29 | pmid=3875704 | doi=10.1016/s0022-3476(85)80501-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3875704  }} </ref>


==Natural History, Complications, and Prognosis==
==Natural History, Complications, and Prognosis==
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
If left untreated, short stature results in lower than [[normal]] adult height.
 
OR
 
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
 
OR
 
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.


==Diagnosis==
==Diagnosis==
===Diagnostic Study of Choice===
===Diagnostic Study of Choice===
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
The diagnosis of [[short stature]] is based on the [[definition]] of a height more than 2 [[standard deviations]](SD) below the mean for chronological [[age]] and [[sex]]. This corresponds to a [[height]] of less than 2.3rd percentile.  Serial measurements of [[height]] and height [[velocity]] must be done at every well-child visit and a growth chart must be monitored. For infants less than 2 years of age, the length is measured lying down. For [[children]] more than 2 years of age, standing height is measured.
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
There are no established criteria for the diagnosis of [disease name].


===History and Symptoms===
===History and Symptoms===
The majority of patients with [disease name] are asymptomatic.
The majority of patients with short stature are [[Diagnosis|diagnosed]] by serial measurements of height.


OR
When short stature is associated with underlying [[pathology]], history of the following may be seen-


The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
*[[Premature]] birth, [[small for gestational age]]
*[[Malnutrition]]- [[Weight loss]], [[loss of appetite]]
*[[Crohn's disease]]- [[Diarrhea]], [[weight loss]], [[rectal bleeding]]
*[[Immunodeficiency]] syndromes or [[cystic fibrosis]]- [[recurrent]] [[infections]]
*[[Hypothyroidism]]- [[Cold intolerance]], [[weight gain]], [[dry skin]], [[constipation]]
*[[Cushing's syndrome]]- [[thin skin]], [[striae]], [[central obesity]]
*[[Asthma]]- [[chronic cough]]
*[[Arthralgia]]
*Chronic [[systemic]] illness
*Use of [[glucocorticoids]]
*Learning [[disability]] in developmental disorders


===Physical Examination===
===Physical Examination===
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
Patients with short stature usually appear normal. If associated with underlying conditions, other features related to the underlying disease may be seen.
 
The following features must be noted on physical examination- <ref name="pmid23586744">{{cite journal| author=Haymond M, Kappelgaard AM, Czernichow P, Biller BM, Takano K, Kiess W | display-authors=etal| title=Early recognition of growth abnormalities permitting early intervention. | journal=Acta Paediatr | year= 2013 | volume= 102 | issue= 8 | pages= 787-96 | pmid=23586744 | doi=10.1111/apa.12266 | pmc=3738943 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23586744  }} </ref>
OR
 
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR


The presence of [finding(s)] on physical examination is diagnostic of [disease name].
*Length or [[Human height|height]] plotted on a growth chart corresponding to [[age]] and sex
*[[Weight]] and weight-for-age
*Height velocity- measured in cm/year by calculating the difference in [[Human height|height]] with a time difference of at least 6 months
*Midparental height- Represents the potential or genetic target height <ref name="pmid10648378">{{cite journal| author=Cole TJ| title=A simple chart to identify non-familial short stature. | journal=Arch Dis Child | year= 2000 | volume= 82 | issue= 2 | pages= 173-6 | pmid=10648378 | doi=10.1136/adc.82.2.173 | pmc=1718221 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10648378  }} </ref>
**Boys- (father's height + mother's height + 13 cm)/2
**Girls- (father's height + mother's height − 13 cm)/2
*[[Bone age]]
**Delayed- Constitutional delay in growth and puberty, underlying [[systemic]] [[illness]]
**Normal- [[Familial]] short stature
**Advanced- [[Precocious puberty]]
*Adult [[Human height|height]] prediction


OR
Other features suspicious of [[Pathology (disambiguation)|pathological]] causes of short stature may be associated with-


The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
*[[Turner syndrome]]- [[webbed neck]], low-set ears
*[[Malnutrition]]
*[[Celiac disease]]- [[oral ulcers]], [[anal tags]]
*[[Cystic fibrosis]]- [[weight loss]]


===Laboratory Findings===
===Laboratory Findings===
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
There are no specific diagnostic [[laboratory]] findings associated with short stature. Associated findings due to an underlying pathological illness may be seen. <ref name="pmid29375479">{{cite journal| author=Maghnie M, Labarta JI, Koledova E, Rohrer TR| title=Short Stature Diagnosis and Referral. | journal=Front Endocrinol (Lausanne) | year= 2017 | volume= 8 | issue=  | pages= 374 | pmid=29375479 | doi=10.3389/fendo.2017.00374 | pmc=5768898 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29375479  }} </ref> <ref name="pmid14747433">{{cite journal| author=Evans C, Gregory JW, All Wales Clinical Biochemistry Audit Group| title=The investigation of short stature: a survey of practice in Wales and suggested practical guidelines. | journal=J Clin Pathol | year= 2004 | volume= 57 | issue= 2 | pages= 126-30 | pmid=14747433 | doi=10.1136/jcp.2002.002238 | pmc=1770205 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14747433  }} </ref> <ref name="pmid31514194">{{cite journal| author=Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS | display-authors=etal| title=Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective. | journal=Horm Res Paediatr | year= 2019 | volume= 92 | issue= 1 | pages= 1-14 | pmid=31514194 | doi=10.1159/000502231 | pmc=6979443 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31514194  }} </ref>


OR
*[[Growth hormone deficiency]]- Low [[growth hormone]]; [[growth hormone]] provocative/stimualtion tests
 
*Low [[insulin-like growth factor 1]] (IGF-1)
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
*Low [[thyroid hormone]], high [[TSH]]- [[Hypothyroidism]]
 
*[[Karyotyping]]
OR
*[[Immunoglobulin]] measurement- [[immunodeficiencies ]]
 
*Positive [[IgA]] anti-[[tissue transglutaminase]]- [[Celiac disease]]
[Test] is usually normal among patients with [disease name].
 
OR
 
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
 
OR
 
There are no diagnostic laboratory findings associated with [disease name].


===Electrocardiogram===
===Electrocardiogram===
There are no ECG findings associated with [disease name].
An [[ECG]] may be helpful in the diagnosis of [[congenital heart disease]] as a cause of short stature.
 
OR
 
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].


===X-ray===
===X-ray===
There are no x-ray findings associated with [disease name].
An [[X-rays|x-ray]] is used to determine the [[bone age]] in the diagnosis of the cause of short stature.
 
OR
 
An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===Echocardiography or Ultrasound===
===Echocardiography or Ultrasound===
There are no echocardiography/ultrasound  findings associated with [disease name].
OR
Echocardiography/ultrasound  may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].


OR
[[Echocardiography]]/[[ultrasound]] may be helpful in the diagnosis of short stature when associated with [[congenital heart disease]].
 
There are no echocardiography/ultrasound  findings associated with [disease name]. However, an echocardiography/ultrasound  may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===CT scan===
===CT scan===
There are no CT scan findings associated with [disease name].
There are no [[Computed tomography|CT scan]] findings associated with short stature.
 
OR
 
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===MRI===
===MRI===
There are no MRI findings associated with [disease name].
There are no [[Magnetic resonance imaging|MRI]] findings associated with short stature. An MRI may be useful when short stature is associated with [[growth hormone deficiency]]. Suggestive findings include absence of the [[anterior]] [[pituitary gland]] ([[empty sella]]), an [[ectopic]] [[posterior]] [[pituitary gland]], and [[hypoplasia]] of the [[pituitary gland]]. <ref name="pmid28587427">{{cite journal| author=Xu C, Zhang X, Dong L, Zhu B, Xin T| title=MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions. | journal=Exp Ther Med | year= 2017 | volume= 13 | issue= 6 | pages= 3474-3478 | pmid=28587427 | doi=10.3892/etm.2017.4377 | pmc=5450600 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28587427  }} </ref> <ref name="pmid21935593">{{cite journal| author=Kalina MA, Kalina-Faska B, Gruszczyńska K, Baron J, Małecka-Tendera E| title=Usefulness of magnetic resonance findings of the hypothalamic-pituitary region in the management of short children with growth hormone deficiency: evidence from a longitudinal study. | journal=Childs Nerv Syst | year= 2012 | volume= 28 | issue= 1 | pages= 121-7 | pmid=21935593 | doi=10.1007/s00381-011-1594-7 | pmc=3252499 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21935593  }} </ref>
 
OR
 
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===Other Imaging Findings===
===Other Imaging Findings===
There are no other imaging findings associated with [disease name].
There are no other imaging findings associated with short stature.
 
OR
 
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].


===Other Diagnostic Studies===
===Other Diagnostic Studies===
There are no other diagnostic studies associated with [disease name].
There are no other diagnostic studies associated with short stature.
 
OR
 
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].


==Treatment==
==Treatment==
===Medical Therapy===
===Medical Therapy===
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
The mainstay of treatment for short stature due to [[growth hormone deficiency]] is [[growth hormone]] [[replacement]] [[therapy]]. <ref name="pmid27884013">{{cite journal| author=Grimberg A, DiVall SA, Polychronakos C, Allen DB, Cohen LE, Quintos JB | display-authors=etal| title=Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency. | journal=Horm Res Paediatr | year= 2016 | volume= 86 | issue= 6 | pages= 361-397 | pmid=27884013 | doi=10.1159/000452150 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27884013  }} </ref> <ref name="pmid31514194">{{cite journal| author=Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS | display-authors=etal| title=Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective. | journal=Horm Res Paediatr | year= 2019 | volume= 92 | issue= 1 | pages= 1-14 | pmid=31514194 | doi=10.1159/000502231 | pmc=6979443 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31514194  }} </ref>


OR
*[[Recombinant]] human [[Growth hormone]] (rhGH)- Initial dosing and adjustments are based on [[weight]], [[body surface area]], [[growth]] response, and increase in height velocity.
*Dose- Starting recommended dose is 25 μg/kg/day up to 43 µg/kg/day
*Regular assessment with [[growth velocity]] and [[IGF-1]] levels must be done every 6-12 months.
**Low levels of [[IGF-1]] indicate poor [[adherence]], inadequate storage, or the presence of another condition <ref name="pmid20207829">{{cite journal| author=Cohen P, Germak J, Rogol AD, Weng W, Kappelgaard AM, Rosenfeld RG | display-authors=etal| title=Variable degree of growth hormone (GH) and insulin-like growth factor (IGF) sensitivity in children with idiopathic short stature compared with GH-deficient patients: evidence from an IGF-based dosing study of short children. | journal=J Clin Endocrinol Metab | year= 2010 | volume= 95 | issue= 5 | pages= 2089-98 | pmid=20207829 | doi=10.1210/jc.2009-2139 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20207829  }} </ref>
**High [[IGF-1]] levels indicate [[IGF-1]] [[insensitivity]]
*Inadequate response <ref name="pmid22540980">{{cite journal| author=Bang P, Ahmed SF, Argente J, Backeljauw P, Bettendorf M, Bona G | display-authors=etal| title=Identification and management of poor response to growth-promoting therapy in children with short stature. | journal=Clin Endocrinol (Oxf) | year= 2012 | volume= 77 | issue= 2 | pages= 169-81 | pmid=22540980 | doi=10.1111/j.1365-2265.2012.04420.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22540980  }} </ref>
**Height velocity <2 cm/year
**Change in height velocity with a [[standard deviation]] of less than <0.3/year during the first 6–12 months of therapy


Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
Other pharmacologic medical therapies for other causes of short stature include- <ref name="pmid31514194">{{cite journal| author=Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS | display-authors=etal| title=Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective. | journal=Horm Res Paediatr | year= 2019 | volume= 92 | issue= 1 | pages= 1-14 | pmid=31514194 | doi=10.1159/000502231 | pmc=6979443 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31514194  }} </ref>


OR
*Recombinant [[IGF-1]]
*[[Testosterone]]
*[[Aromatase inhibitors]]- [[Anastrazole]], [[letrozole]]
*[[Estrogen]]
*[[GnRH]] [[analogs]]


The majority of cases of [disease name] are self-limited and require only supportive care.
Patients with an underlying disorder resulting in short stature should be treated for the disorder.
 
OR
 
[Disease name] is a medical emergency and requires prompt treatment.
 
OR
 
The mainstay of treatment for [disease name] is [therapy].
 
OR
 
The optimal therapy for [malignancy name] depends on the stage at diagnosis.
 
OR
 
[Therapy] is recommended among all patients who develop [disease name].
 
OR
 
Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
 
OR
 
Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
 
OR
 
Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
 
OR
 
Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].


===Surgery===
===Surgery===
Surgical intervention is not recommended for the management of [disease name].
Surgical intervention is not recommended for the management of short stature.
 
OR
 
Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]
 
OR
 
The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].
 
OR
 
The feasibility of surgery depends on the stage of [malignancy] at diagnosis.
 
OR
 
Surgery is the mainstay of treatment for [disease or malignancy].


===Primary Prevention===
===Primary Prevention===
There are no established measures for the primary prevention of [disease name].
There are no established measures for the primary prevention of short stature.
 
Adequate [[maternal]] [[nutrition]] during [[pregnancy]] is an important factor.
OR
 
There are no available vaccines against [disease name].
 
OR
 
Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
 
OR
 
[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].


===Secondary Prevention===
===Secondary Prevention===
There are no established measures for the secondary prevention of [disease name].
There are no established measures for the secondary prevention of short stature.
 
OR
 
Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].


==References==
==References==

Latest revision as of 18:18, 8 December 2020

Short stature
Classification and external resources
ICD-10 E34.3
ICD-9 783.43
DiseasesDB 18756
MedlinePlus 003271

WikiDoc Resources for Short stature

Articles

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Experimental / Informatics

List of terms related to Short stature

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ifrah Fatima, M.B.B.S[2]

Overview

Short stature is defined as a height more than 2 standard deviations below the mean for chronological age and sex. It corresponds to a linear height of less than the 3rd percentile. The most common causes of short stature are normal variants of growth like familial short stature and constitutional delay of growth and puberty.

Historical Perspective

[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].

The association between [important risk factor/cause] and [disease name] was made in/during [year/event].

In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].

In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].

There have been several outbreaks of [disease name], including -----.

In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].

Classification

There is no established system for the classification of short stature. Based on the etiology, short stature may be classified into normal variants of growth or systemic pathological causes. Normal variants of growth include- [1]

For more information about the pathological etiology, refer to causes below.

Pathophysiology

The exact pathogenesis of short stature is an interplay of many factors. Linear growth is determined by the factors affecting the growth plate cartilage of bones. [2][3]

Causes

The most common causes of short stature are the normal variants of growth- familial short stature and constitutional delay of growth and puberty. Normal variants of growth include-

Pathological causes of short stature include- [6]

Differentiating familial short stature from constitutional delay

[10] [11]

Feature Familial short stature Constitutional delay
Parents' height Short Normal or average
Growth Normal Slow
Bone age Normal Delayed
Puberty Normal Delayed
Adult height Short Normal

Epidemiology and Demographics

The incidence of short stature according to its definition is approximately 2.5% i.e more than 2 standard deviations below the mean for chronological age and sex. The prevalence varies according to different environmental and genetic factors.

According to a study by Lindsay et al, the prevalence of growth hormone deficiency in the United States is 1: 1348. [12]

A study by Velayutham et al showed that the prevalence of short stature in school-going population in South India is 2.86%. [13]

According to a study by Mouzan et al, the prevalence of short stature ranged from 1.8% to 11.3% in males and 1.2% to 10.5% in females. [14]

There is no racial predilection to short stature.

Males are more commonly affected by short stature due to growth hormone deficiency.

Risk Factors

Common risk factors in the development of short stature include- [15][16][17]

Screening

Linear height is measured serially and charted at every well-child visit. The growth pattern should be charted and height velocity must be noted. The infancy-childhood-puberty mathematical model may be used to detect abnormalities.[18][19]

Natural History, Complications, and Prognosis

If left untreated, short stature results in lower than normal adult height.

Diagnosis

Diagnostic Study of Choice

The diagnosis of short stature is based on the definition of a height more than 2 standard deviations(SD) below the mean for chronological age and sex. This corresponds to a height of less than 2.3rd percentile. Serial measurements of height and height velocity must be done at every well-child visit and a growth chart must be monitored. For infants less than 2 years of age, the length is measured lying down. For children more than 2 years of age, standing height is measured.

History and Symptoms

The majority of patients with short stature are diagnosed by serial measurements of height.

When short stature is associated with underlying pathology, history of the following may be seen-

Physical Examination

Patients with short stature usually appear normal. If associated with underlying conditions, other features related to the underlying disease may be seen. The following features must be noted on physical examination- [21]

  • Length or height plotted on a growth chart corresponding to age and sex
  • Weight and weight-for-age
  • Height velocity- measured in cm/year by calculating the difference in height with a time difference of at least 6 months
  • Midparental height- Represents the potential or genetic target height [22]
    • Boys- (father's height + mother's height + 13 cm)/2
    • Girls- (father's height + mother's height − 13 cm)/2
  • Bone age
  • Adult height prediction

Other features suspicious of pathological causes of short stature may be associated with-

Laboratory Findings

There are no specific diagnostic laboratory findings associated with short stature. Associated findings due to an underlying pathological illness may be seen. [23] [24] [25]

Electrocardiogram

An ECG may be helpful in the diagnosis of congenital heart disease as a cause of short stature.

X-ray

An x-ray is used to determine the bone age in the diagnosis of the cause of short stature.

Echocardiography or Ultrasound

Echocardiography/ultrasound may be helpful in the diagnosis of short stature when associated with congenital heart disease.

CT scan

There are no CT scan findings associated with short stature.

MRI

There are no MRI findings associated with short stature. An MRI may be useful when short stature is associated with growth hormone deficiency. Suggestive findings include absence of the anterior pituitary gland (empty sella), an ectopic posterior pituitary gland, and hypoplasia of the pituitary gland. [26] [27]

Other Imaging Findings

There are no other imaging findings associated with short stature.

Other Diagnostic Studies

There are no other diagnostic studies associated with short stature.

Treatment

Medical Therapy

The mainstay of treatment for short stature due to growth hormone deficiency is growth hormone replacement therapy. [28] [25]

Other pharmacologic medical therapies for other causes of short stature include- [25]

Patients with an underlying disorder resulting in short stature should be treated for the disorder.

Surgery

Surgical intervention is not recommended for the management of short stature.

Primary Prevention

There are no established measures for the primary prevention of short stature. Adequate maternal nutrition during pregnancy is an important factor.

Secondary Prevention

There are no established measures for the secondary prevention of short stature.

References

  1. ↑ Rogol AD, Hayden GF (2014). "Etiologies and early diagnosis of short stature and growth failure in children and adolescents". J Pediatr. 164 (5 Suppl): S1–14.e6. doi:10.1016/j.jpeds.2014.02.027. PMID 24731744.
  2. ↑ Rimoin DL, Borochowitz Z, Horton WA (1986). "Short stature--physiology and pathology". West J Med. 144 (6): 710–21. PMC 1306754. PMID 2873688.
  3. ↑ Baron J, Sävendahl L, De Luca F, Dauber A, Phillip M, Wit JM; et al. (2015). "Short and tall stature: a new paradigm emerges". Nat Rev Endocrinol. 11 (12): 735–46. doi:10.1038/nrendo.2015.165. PMC 5002943. PMID 26437621.
  4. ↑ Hanew K, Tachibana K, Yokoya S, Fujieda K, Tanaka T, Igarashi Y; et al. (2006). "Clinical characteristics, etiologies and pathophysiology of patients with severe short stature with severe GH deficiency: questionnaire study on the data registered with the foundation for growth science, Japan". Endocr J. 53 (2): 259–65. doi:10.1507/endocrj.53.259. PMID 16618986.
  5. ↑ Nilsson O, Weise M, Landman EB, Meyers JL, Barnes KM, Baron J (2014). "Evidence that estrogen hastens epiphyseal fusion and cessation of longitudinal bone growth by irreversibly depleting the number of resting zone progenitor cells in female rabbits". Endocrinology. 155 (8): 2892–9. doi:10.1210/en.2013-2175. PMC 4098010. PMID 24708243.
  6. ↑ Waqar Rabbani M, Imran Khan W, Bilal Afzal A, Rabbani W (2013). "Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan". Pak J Med Sci. 29 (1): 53–7. doi:10.12669/pjms.291.2688. PMC 3809182. PMID 24353507.
  7. ↑ Thommessen M, Heiberg A, Kase BF (1992). "Feeding problems in children with congenital heart disease: the impact on energy intake and growth outcome". Eur J Clin Nutr. 46 (7): 457–64. PMID 1623850.
  8. ↑ de Zegher F, Reynaert N, De Somer L, Wouters C, Roelants M (2018). "Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies". Horm Res Paediatr. 90 (5): 337–343. doi:10.1159/000489778. PMID 29940586.
  9. ↑ Kaji M, Nishi Y (2006). "Lead and growth". Clin Pediatr Endocrinol. 15 (4): 123–8. doi:10.1297/cpe.15.123. PMC 4004863. PMID 24790332.
  10. ↑ Lanes R, Lee PA, Plotnick LP, Kowarski AA, Migeon CJ (1980). "Are constitutional delay of growth and familial short stature different conditions?". Clin Pediatr (Phila). 19 (1): 31–3. doi:10.1177/000992288001900105. PMID 7351094.
  11. ↑ Soliman AT, De Sanctis V (2012). "An approach to constitutional delay of growth and puberty". Indian J Endocrinol Metab. 16 (5): 698–705. doi:10.4103/2230-8210.100650. PMC 3475892. PMID 23087852.
  12. ↑ Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M (1994). "Utah Growth Study: growth standards and the prevalence of growth hormone deficiency". J Pediatr. 125 (1): 29–35. doi:10.1016/s0022-3476(94)70117-2. PMID 8021781.
  13. ↑ Velayutham K, Selvan SSA, Jeyabalaji RV, Balaji S (2017). "Prevalence and Etiological Profile of Short Stature among School Children in a South Indian Population". Indian J Endocrinol Metab. 21 (6): 820–822. doi:10.4103/ijem.IJEM_149_17. PMC 5729667. PMID 29285442.
  14. ↑ El Mouzan MI, Al Herbish AS, Al Salloum AA, Foster PJ, Al Omer AA, Qurachi MM (2011). "Prevalence of short stature in Saudi children and adolescents". Ann Saudi Med. 31 (5): 498–501. doi:10.4103/0256-4947.84628. PMC 3183685. PMID 21911988.
  15. ↑ Amigo H, Bustos P (1995). "[Risk factors of short stature in Chilean school children from rural areas of high social vulnerability]". Arch Latinoam Nutr. 45 (2): 97–102. PMID 8729259.
  16. ↑ Matsumoto M, Nagano N, Awano H, Ohyama S, Fujioka K, Iwatani S; et al. (2019). "Incidence and Neonatal Risk factors of Short Stature and Growth Hormone treatment in Japanese Preterm Infants Born Small for Gestational Age". Sci Rep. 9 (1): 12238. doi:10.1038/s41598-019-48785-y. PMC 6706397 Check |pmc= value (help). PMID 31439925.
  17. ↑ Hussein A, Farghaly H, Askar E, Metwalley K, Saad K, Zahran A; et al. (2017). "Etiological factors of short stature in children and adolescents: experience at a tertiary care hospital in Egypt". Ther Adv Endocrinol Metab. 8 (5): 75–80. doi:10.1177/2042018817707464. PMC 5467802. PMID 28634534.
  18. ↑ Tse WY, Hindmarsh PC, Brook CG (1989). "The infancy-childhood-puberty model of growth: clinical aspects". Acta Paediatr Scand Suppl. 356: 38–43, discussion 44-5. doi:10.1111/j.1651-2227.1989.tb11238.x. PMID 2683573.
  19. ↑ Karlberg J (1989). "A biologically-oriented mathematical model (ICP) for human growth". Acta Paediatr Scand Suppl. 350: 70–94. doi:10.1111/j.1651-2227.1989.tb11199.x. PMID 2801108.
  20. ↑ Tanner JM, Davies PS (1985). "Clinical longitudinal standards for height and height velocity for North American children". J Pediatr. 107 (3): 317–29. doi:10.1016/s0022-3476(85)80501-1. PMID 3875704.
  21. ↑ Haymond M, Kappelgaard AM, Czernichow P, Biller BM, Takano K, Kiess W; et al. (2013). "Early recognition of growth abnormalities permitting early intervention". Acta Paediatr. 102 (8): 787–96. doi:10.1111/apa.12266. PMC 3738943. PMID 23586744.
  22. ↑ Cole TJ (2000). "A simple chart to identify non-familial short stature". Arch Dis Child. 82 (2): 173–6. doi:10.1136/adc.82.2.173. PMC 1718221. PMID 10648378.
  23. ↑ Maghnie M, Labarta JI, Koledova E, Rohrer TR (2017). "Short Stature Diagnosis and Referral". Front Endocrinol (Lausanne). 8: 374. doi:10.3389/fendo.2017.00374. PMC 5768898. PMID 29375479.
  24. ↑ Evans C, Gregory JW, All Wales Clinical Biochemistry Audit Group (2004). "The investigation of short stature: a survey of practice in Wales and suggested practical guidelines". J Clin Pathol. 57 (2): 126–30. doi:10.1136/jcp.2002.002238. PMC 1770205. PMID 14747433.
  25. ↑ 25.0 25.1 25.2 Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS; et al. (2019). "Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective". Horm Res Paediatr. 92 (1): 1–14. doi:10.1159/000502231. PMC 6979443 Check |pmc= value (help). PMID 31514194.
  26. ↑ Xu C, Zhang X, Dong L, Zhu B, Xin T (2017). "MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions". Exp Ther Med. 13 (6): 3474–3478. doi:10.3892/etm.2017.4377. PMC 5450600. PMID 28587427.
  27. ↑ Kalina MA, Kalina-Faska B, Gruszczyńska K, Baron J, Małecka-Tendera E (2012). "Usefulness of magnetic resonance findings of the hypothalamic-pituitary region in the management of short children with growth hormone deficiency: evidence from a longitudinal study". Childs Nerv Syst. 28 (1): 121–7. doi:10.1007/s00381-011-1594-7. PMC 3252499. PMID 21935593.
  28. ↑ Grimberg A, DiVall SA, Polychronakos C, Allen DB, Cohen LE, Quintos JB; et al. (2016). "Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency". Horm Res Paediatr. 86 (6): 361–397. doi:10.1159/000452150. PMID 27884013.
  29. ↑ Cohen P, Germak J, Rogol AD, Weng W, Kappelgaard AM, Rosenfeld RG; et al. (2010). "Variable degree of growth hormone (GH) and insulin-like growth factor (IGF) sensitivity in children with idiopathic short stature compared with GH-deficient patients: evidence from an IGF-based dosing study of short children". J Clin Endocrinol Metab. 95 (5): 2089–98. doi:10.1210/jc.2009-2139. PMID 20207829.
  30. ↑ Bang P, Ahmed SF, Argente J, Backeljauw P, Bettendorf M, Bona G; et al. (2012). "Identification and management of poor response to growth-promoting therapy in children with short stature". Clin Endocrinol (Oxf). 77 (2): 169–81. doi:10.1111/j.1365-2265.2012.04420.x. PMID 22540980.


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