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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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
*[[Familial]] short stature
*Constitutional delay of growth and puberty
*Constitutional delay of [[growth]] and [[puberty]]
*[[Small for gestational age]] with catch-up growth
*[[Small for gestational age]] with catch-up growth
*[[Idiopathic]] short stature
*[[Idiopathic]] short stature
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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>
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- [[Growth hormone|GH gene]] (17q22), 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>
*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>
*Hormones that promote growth-
*Hormones that promote growth-
**[[Growth hormone]] (GH)
**[[Growth hormone]] (GH)
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**[[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>
**[[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>
*Paracrine factors- [[Fibroblast growth factor]], [[parathyroid hormone-related protein]]
*Paracrine factors- [[Fibroblast growth factor]], [[parathyroid hormone-related protein]]
*Extracellular matrix proteins- [[Collagen]], proteoglycans
*Extracellular [[matrix]] [[Protein|proteins]]- [[Collagen]], [[Proteoglycan|proteoglycans]]


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


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**[[Rickets]] ([[vitamin D deficiency]])
**[[Rickets]] ([[vitamin D deficiency]])
**[[Diabetes mellitus type 1|Type I diabetes mellitus]]
**[[Diabetes mellitus type 1|Type I diabetes mellitus]]
*Genetic syndromes
*[[Genetics|Genetic]] syndromes
**[[Turner syndrome]]
**[[Turner syndrome]]
**[[Noonan syndrome]]
**[[Noonan syndrome]]
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*Systemic diseases-
*Systemic diseases-
**Gastrointestinal causes- [[Celiac disease]], [[Inflammatory bowel disease]] ([[Crohn's disease]]), [[Malabsorption|Malabsorption syndromes]]
**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]]
**[[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>
**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]]
**[[Chronic renal failure|Chronic Kidney Disease]]
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==Epidemiology and Demographics==
==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 [[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.
The [[prevalence]] varies according to different [[environmental]] and [[genetic]] factors.


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==Risk Factors==
==Risk Factors==
Common 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>
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>
* [[Genetic]] factors
 
* [[Environmental]] factors
*[[Genetic]] factors
* [[Diet]]- undernutrition during [[pregnancy]], [[malnutrition]] of [[infants]]
*[[Environmental]] factors
* [[Low birth weight]]
*[[Diet]]- undernutrition during [[pregnancy]], [[malnutrition]] of [[infants]]
* Low [[gestational age]] at birth
*[[Low birth weight]]
*Low [[gestational age]] at birth


==Screening==
==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.
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>
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>
* [[Infancy]]- [[Nutrition]] dependent; rapid linear growth of about 30-35cm
 
* Childhood- [[Growth hormone]]-dependent; linear growth with constant height velocity  
*[[Infancy]]- [[Nutrition]] dependent; rapid linear growth of about 30-35cm
* [[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>
*Childhood- [[Growth hormone]]-dependent; linear growth with constant height velocity
*[[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, short stature results in lower than normal adult height.
If left untreated, short stature results in lower than [[normal]] adult height.


==Diagnosis==
==Diagnosis==
===Diagnostic Study of Choice===
===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.
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===
===History and Symptoms===
The majority of patients with short stature are diagnosed by serial measurements of height.
The majority of patients with short stature are [[Diagnosis|diagnosed]] by serial measurements of height.


When short stature is associated with underlying pathology, history of the following may be seen-  
When short stature is associated with underlying [[pathology]], history of the following may be seen-  
* [[Premature]] birth, [[small for gestational age]]
 
* [[Malnutrition]]- [[Weight loss]], [[loss of appetite]]
*[[Premature]] birth, [[small for gestational age]]
* [[Crohn's disease]]- [[Diarrhea]], [[weight loss]], [[rectal bleeding]]
*[[Malnutrition]]- [[Weight loss]], [[loss of appetite]]
* [[Immunodeficiency]] syndromes or [[cystic fibrosis]]- [[recurrent]] [[infections]]
*[[Crohn's disease]]- [[Diarrhea]], [[weight loss]], [[rectal bleeding]]
* [[Hypothyroidism]]- [[Cold intolerance]], [[weight gain]], [[dry skin]], [[constipation]]
*[[Immunodeficiency]] syndromes or [[cystic fibrosis]]- [[recurrent]] [[infections]]
* [[Cushing's syndrome]]- [[thin skin]], [[striae]], [[central obesity]]
*[[Hypothyroidism]]- [[Cold intolerance]], [[weight gain]], [[dry skin]], [[constipation]]
* [[Asthma]]- [[chronic cough]]
*[[Cushing's syndrome]]- [[thin skin]], [[striae]], [[central obesity]]
* [[Arthralgia]]
*[[Asthma]]- [[chronic cough]]
* Chronic [[systemic]] illness
*[[Arthralgia]]
* Use of [[glucocorticoids]]
*Chronic [[systemic]] illness
* Learning [[disability]] in developmental disorders
*Use of [[glucocorticoids]]
*Learning [[disability]] in developmental disorders


===Physical Examination===
===Physical Examination===
Patients with short stature usually appear normal. If associated with underlying conditions, other features related to the underlying disease may be seen.
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>
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>
* Length or height plotted on a growth chart corresponding to age and sex
 
* Weight and weight-for-age
*Length or [[Human height|height]] plotted on a growth chart corresponding to [[age]] and sex
* Height velocity- measured in cm/year by calculating the difference in height with a time difference of at least 6 months
*[[Weight]] and weight-for-age
* 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>
*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
**Boys- (father's height + mother's height + 13 cm)/2
**Girls- (father's height + mother's height − 13 cm)/2
**Girls- (father's height + mother's height − 13 cm)/2
* [[Bone age]]
*[[Bone age]]
** Delayed- Constitutional delay in growth and puberty, underlying systemic illness
**Delayed- Constitutional delay in growth and puberty, underlying [[systemic]] [[illness]]
** Normal- Familial short stature
**Normal- [[Familial]] short stature
** Advanced- [[Precocious puberty]]
**Advanced- [[Precocious puberty]]
* Adult height prediction
*Adult [[Human height|height]] prediction


Other features suspicious of pathological causes of short stature may be associated with-  
Other features suspicious of [[Pathology (disambiguation)|pathological]] causes of short stature may be associated with-  
* [[Turner syndrome]]- [[webbed neck]], low-set ears
 
* [[Malnutrition]]  
*[[Turner syndrome]]- [[webbed neck]], low-set ears
* [[Celiac disease]]- [[oral ulcers]], [[anal tags]]
*[[Malnutrition]]
* [[Cystic fibrosis]]- [[weight loss]]
*[[Celiac disease]]- [[oral ulcers]], [[anal tags]]
*[[Cystic fibrosis]]- [[weight loss]]


===Laboratory Findings===
===Laboratory Findings===
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>
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>
* [[Growth hormone deficiency]]- Low [[growth hormone]]; [[growth hormone]] provocative/stimualtion tests
 
* Low [[insulin-like growth factor 1]] (IGF-1)
*[[Growth hormone deficiency]]- Low [[growth hormone]]; [[growth hormone]] provocative/stimualtion tests
* Low [[thyroid hormone]], high [[TSH]]- [[Hypothyroidism]]
*Low [[insulin-like growth factor 1]] (IGF-1)
* [[Karyotyping]]
*Low [[thyroid hormone]], high [[TSH]]- [[Hypothyroidism]]
* [[Immunoglobulin]] measurement- [[immunodeficiencies ]]
*[[Karyotyping]]
* Positive [[IgA]] anti-[[tissue transglutaminase]]- [[Celiac disease]]
*[[Immunoglobulin]] measurement- [[immunodeficiencies ]]
*Positive [[IgA]] anti-[[tissue transglutaminase]]- [[Celiac disease]]


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


===X-ray===
===X-ray===
An x-ray is used to determine the bone age in the diagnosis of the cause of short stature.
An [[X-rays|x-ray]] is used to determine the [[bone age]] in the diagnosis of the cause of short stature.


===Echocardiography or Ultrasound===
===Echocardiography or Ultrasound===


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


===CT scan===
===CT scan===
There are no CT scan findings associated with short stature.
There are no [[Computed tomography|CT scan]] findings associated with short stature.


===MRI===
===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 ppituitary 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>
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>


===Other Imaging Findings===
===Other Imaging Findings===
Line 232: Line 238:
==Treatment==
==Treatment==
===Medical Therapy===
===Medical Therapy===
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>
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>
* 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
*[[Recombinant]] human [[Growth hormone]] (rhGH)- Initial dosing and adjustments are based on [[weight]], [[body surface area]], [[growth]] response, and increase in height velocity.
* Regular assessment with growth velocity and IGF-1 levels must be done every 6-12 months.
*Dose- Starting recommended dose is 25 μg/kg/day up to 43 µg/kg/day
** Low levels of IGF-I 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>
*Regular assessment with [[growth velocity]] and [[IGF-1]] levels must be done every 6-12 months.
** High IGF-I levels indicate IGF-I insensitivity
**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>
* 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>
**High [[IGF-1]] levels indicate [[IGF-1]] [[insensitivity]]
** Height velocity <2 cm/year
*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>
** Change in height velocity with a standard deviation of less than <0.3/year during the first 6–12 months of therapy  
**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


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


Patients with an underlying disorder resulting in short stature should be treated for the disorder.
Patients with an underlying disorder resulting in short stature should be treated for the disorder.
Line 256: Line 264:
===Primary Prevention===
===Primary Prevention===
There are no established measures for the primary prevention of short stature.
There are no established measures for the primary prevention of short stature.
Adequate maternal nutrition during pregnancy is an important factor.
Adequate [[maternal]] [[nutrition]] during [[pregnancy]] is an important factor.


===Secondary Prevention===
===Secondary Prevention===

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

Most recent articles on Short stature

Most cited articles on Short stature

Review articles on Short stature

Articles on Short stature in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Short stature

Images of Short stature

Photos of Short stature

Podcasts & MP3s on Short stature

Videos on Short stature

Evidence Based Medicine

Cochrane Collaboration on Short stature

Bandolier on Short stature

TRIP on Short stature

Clinical Trials

Ongoing Trials on Short stature at Clinical Trials.gov

Trial results on Short stature

Clinical Trials on Short stature at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Short stature

NICE Guidance on Short stature

NHS PRODIGY Guidance

FDA on Short stature

CDC on Short stature

Books

Books on Short stature

News

Short stature in the news

Be alerted to news on Short stature

News trends on Short stature

Commentary

Blogs on Short stature

Definitions

Definitions of Short stature

Patient Resources / Community

Patient resources on Short stature

Discussion groups on Short stature

Patient Handouts on Short stature

Directions to Hospitals Treating Short stature

Risk calculators and risk factors for Short stature

Healthcare Provider Resources

Symptoms of Short stature

Causes & Risk Factors for Short stature

Diagnostic studies for Short stature

Treatment of Short stature

Continuing Medical Education (CME)

CME Programs on Short stature

International

Short stature en Espanol

Short stature en Francais

Business

Short stature in the Marketplace

Patents on Short stature

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.
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