Short stature: Difference between revisions

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* Chronic systemic illness
* Chronic systemic illness
* Use of glucocorticoids
* Use of glucocorticoids
* Learning disability in developmental disorders


===Physical Examination===
===Physical Examination===

Revision as of 13:07, 4 November 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

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Evidence Based Medicine

Cochrane Collaboration on Short stature

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Trial results on Short stature

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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

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Commentary

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Definitions

Definitions of Short stature

Patient Resources / Community

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Risk calculators and risk factors for Short stature

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Symptoms of Short stature

Causes & Risk Factors for Short stature

Diagnostic studies for Short stature

Treatment of Short stature

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Short stature en Francais

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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]

  • Genetic factors-
  • Environmental factors
  • Diet- undernutrition during pregnancy, malnutrition of infants
  • Low birth weight
  • Low gestational age at birth

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]

  • Infancy- Nutritional dependent; rapid linear growth of about 30-35cm
  • 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. [20]

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-

  • 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 intolerane, 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

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-

  • 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 in a time difference of at least 6 months
  • Midparental height
  • Bone age
  • Adult height prediction

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

  • Turner syndrome- webbed neck, low-set ears
  • Malnutrition
  • Celiac disease- oral ulcers, anal tags
  • Cystic fibrosis- weight loss

Laboratory Findings

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[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

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

X-ray

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/ultrasound may be helpful in the diagnosis of short stature when associated with congenital heart disease. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

CT scan

There are no CT scan findings associated with [disease name].

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

There are no MRI findings associated with short stature.

Other Imaging Findings

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

There are no other diagnostic studies associated with [disease name].

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

Medical Therapy

There is no treatment for [disease name]; the mainstay of therapy is supportive care.

OR

Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].

OR

The majority of cases of [disease name] are self-limited and require only supportive care.

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

Surgical intervention is not recommended for the management of [disease name].

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

There are no established measures for the primary prevention of [disease name].

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

There are no established measures for the secondary prevention of [disease name].

OR

Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].

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.


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