Short stature

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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Media
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Evidence Based Medicine
Cochrane Collaboration on Short stature Bandolier on Short stature TRIP on Short stature
Clinical Trials
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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
Books on Short stature
News
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Commentary
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Definitions
Definitions of Short stature
Patient Resources / Community
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Healthcare Provider Resources
Symptoms of Short stature Causes & Risk Factors for Short stature Diagnostic studies for Short stature Treatment of Short stature
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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-

• 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.

• Genetic factors- GH gene (17q22), SHOX gene variants, Pit-gene mutations, Turner syndrome, Achondroplasia (FGF)
• Hormones that promote growth-
  • Growth hormone (GH)
  • Thyroid hormone
  • Insulin-like growth factor (IGF-1)
  • Testosterone
• Hormones that inhibit growth plate cartilage-
  • Glucocorticoids
  • Estrogen
• 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-

• Malnutrition
• Treatment with Glucocorticoids
• Endocrine causes-
  • Growth hormone deficiency
  • Hypothyroidism
  • Cushing's syndrome
  • Rickets (vitamin D deficiency)
  • Type I diabetes mellitus
• 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 syndromes
  • Pulmonary causes- Cystic fibrosis, obstructive diseases like bronchial asthma
  • Cardiology causes- Untreated congenital heart diseases
  • Chronic Kidney Disease
  • Malignancy
  • Rheumatological causes- Idiopathic juvenile arthritis
  • Hematological causes- Sickle cell anemia
  • Immunodeficiency- Immune deficiencies, HIV infection
  • Infectious diseases- Parasitic infestations like Ascariasis, Enterobius.
  • Environmental pollutants- Lead exposure

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 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.

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

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.

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-

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

Screening

There is insufficient evidence to recommend routine screening for [disease/malignancy].

OR

According to the [guideline name], screening for [disease name] is not recommended.

OR

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].

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

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].

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

The majority of patients with [disease name] are asymptomatic.

OR

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].

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].

OR

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].

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

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].

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

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

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].

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 [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].

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

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