Short stature
Short stature | |
Classification and external resources | |
ICD-10 | E34.3 |
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ICD-9 | 783.43 |
DiseasesDB | 18756 |
MedlinePlus | 003271 |
WikiDoc Resources for Short stature |
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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]
- Familial short stature
- Constitutional delay of growth and puberty
- Small for gestational age with catch-up growth
- Idiopathic short stature
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]
- Genetic factors- GH gene (17q22), SHOX gene variants, Pit-gene mutations, Turner syndrome, Achondroplasia (FGF)[4]
- Hormones that promote growth-
- Hormones that inhibit growth plate cartilage-
- Paracrine factors- Fibroblast growth factor, parathyroid hormone-related protein
- Extracellular matrix proteins- Collagen, proteoglycans
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-
- Familial short stature
- Constitutional delay of growth and puberty
- Idiopathic short stature
- Small for gestational age infants with catch-up growth
Pathological causes of short stature include- [6]
- Malnutrition
- Treatment with Glucocorticoids
- Endocrine causes-
- Genetic syndromes
- Systemic diseases-
- Gastrointestinal causes- Celiac disease, Inflammatory bowel disease (Crohn's disease), Malabsorption syndromes
- Pulmonary causes- Cystic fibrosis, obstructive diseases like bronchial asthma
- Cardiology causes- Untreated congenital heart diseases [7]
- Chronic Kidney Disease
- Malignancy
- Rheumatological causes- Idiopathic juvenile arthritis[8]
- Hematological causes- Sickle cell anemia
- Immunodeficiency- Immune deficiencies, HIV infection
- Infectious diseases- Parasitic infestations like Ascariasis, Enterobius.
- Environmental pollutants- Lead exposure [9]
Differentiating familial short stature from constitutional delay
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/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
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In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
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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].
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The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
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[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
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[Chronic disease name] is usually first diagnosed among [age group].
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[Acute disease name] commonly affects [age group].
There is no racial predilection to [disease name].
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[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.
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[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.
The majority of [disease name] cases are reported in [geographical region].
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[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
Risk Factors
There are no established risk factors for [disease name].
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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].
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Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
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Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.
Screening
There is insufficient evidence to recommend routine screening for [disease/malignancy].
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According to the [guideline name], screening for [disease name] is not recommended.
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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].
Natural History, Complications, and Prognosis
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
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Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
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Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
Diagnosis
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].
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The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
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The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
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There are no established criteria for the diagnosis of [disease name].
History and Symptoms
The majority of patients with [disease name] are asymptomatic.
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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].
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].
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Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
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The presence of [finding(s)] on physical examination is diagnostic of [disease name].
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The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
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].
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[Test] is usually normal among patients with [disease name].
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Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
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There are no diagnostic laboratory findings associated with [disease name].
Electrocardiogram
There are no ECG findings associated with [disease name].
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
There are no x-ray findings associated with [disease name].
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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].
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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
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].
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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
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].
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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 [disease name].
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
There are no other imaging findings associated with [disease name].
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].
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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.
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Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
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The majority of cases of [disease name] are self-limited and require only supportive care.
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[Disease name] is a medical emergency and requires prompt treatment.
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The mainstay of treatment for [disease name] is [therapy].
OR The optimal therapy for [malignancy name] depends on the stage at diagnosis.
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[Therapy] is recommended among all patients who develop [disease name].
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Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
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Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
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Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
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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].
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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]
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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].
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The feasibility of surgery depends on the stage of [malignancy] at diagnosis.
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Surgery is the mainstay of treatment for [disease or malignancy].
Primary Prevention
There are no established measures for the primary prevention of [disease name].
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There are no available vaccines against [disease name].
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Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
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[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
- ↑ 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.
- ↑ Rimoin DL, Borochowitz Z, Horton WA (1986). "Short stature--physiology and pathology". West J Med. 144 (6): 710–21. PMC 1306754. PMID 2873688.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.