Short stature resident survival guide

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


Short stature is caused by multiple causes such as Systemic disorders with secondary effects on growth and pathologic short stature whish is Endocrine, Genetic, and Skeletal dysplasias/growth plate abnormalities. The incidence of short stature is in the late preterm group was 2.9% which was significantly higher than that in the term group (1.4%). The main symptom of short stature in children is very short compared to other children of the same age and sex so usually the children with short stature grow slowly, get their adult teeth later than normal and have normal proportions (their arms and legs match their height).To diagnose short stature we have to do the clinic evaluation to know if its identified as a short stature with dismorphic features or no as well as if the body disproportion or skeletal deformities. Then we can treat the short stature case by the cause of it individually.


Common Causes


Systemic disorders with secondary effects on growth[2][3][4]:

  • Undernutrition [5]

pathologic short stature[28][29][30][31][32][33][34][35]

Endocrine causes[36] of growth failure

Genetic diseases with primary effects on growth[44][45]

Skeletal dysplasias/growth plate abnormalities[73][74][75][76][77][78]


Measure your child's height and weight and plot it on growth charts[79], Take x-rays of the bones of your child's hand to measure the bone age, To find out what is causing your child's short stature, doctors may do:,CT scan or MRI of the head,Blood tests.

Doctors do CT or MRI of the head to look for tumors or other problems with the gland that makes growth hormone (the pituitary gland).

Shown below is an algorithm summarizing the diagnosis of according the the Netherlands, guidelines.for referral are based on screening parameters of height SDS, height SDS relative to target height SDS, and height SDS deflection[80][81][82][83][84][85]

Diagnosis and Referral for Non-GH Deficiency Disorders[86]

1.Turner syndrome[87][88][89][90]

2.short-stature homeobox (SHOX) gene insufficiency[91]

3. Noonan syndrome[92]

4.Skeletal disproportions[93]

Gaps in the Diagnosis of Short Stature Due to GH Deficiency: depend on clinical and phenotype assessments with growth monitoring and laboratory evaluations

1. tumors and identify ectopic and hypoplastic pituitary glands[94][95]

2.hypothyroidism and chronic systemic diseases[96][97][98]



Shown below is an algorithm summarizing the treatment of [[disease name]] according the the [...] guidelines.[99]

1.Normal variants of growth[edit | edit source]

Familial short stature=None needed. Reassurance; monitor growth

Constitutional delay of growth and puberty=None needed. Reassurance; monitor growth; +/– treatment with sex steroids during puberty.

SGA infant, with catch-up growth=Monitor growth to distinguish from the 10% of SGA infants who do not have catch-up growth.

2.Pathologic causes of growth failure[edit | edit source]

Systemic disorders or processes with secondary effects on growth=

Undernutrition=Reverse nutritional deficit.

Glucocorticoid therapy=Minimize glucocorticoid dose or give on alternate days if feasible; consider alternate drugs.

GI disease (especially Crohn disease and celiac disease)=Diagnose and treat underlying disease, improve nutrition, avoid glucocorticoids.

Rheumatologic disease (especially systemic onset juvenile idiopathic arthritis)=Diagnose and treat underlying disease, improve nutrition, avoid glucocorticoids

Renal disease (CKD, renal tubular acidosis)=Diagnose and treat underlying disease, maximize nutrition; GH if needed.

Cancer=Ensure adequate nutrition; treat any secondary pituitary hormone deficiencies (eg, GH deficiency)

Pulmonary disease (eg, cystic fibrosis, immune deficiencies with recurrent pulmonary infections, or severe asthma)=Diagnose and treat underlying disease, ensure adequate nutrition, avoid glucocorticoids

Immunologic disease=Diagnose and treat underlying disease

Endocrine causes of growth failure

Hypothyroidism=Thyroid hormone replacement

Cushing syndrome=Diagnose and treat underlying disease

GH deficiency=rGH

Precocious puberty=Treatment depends on type of precocious puberty

Genetic diseases with primary effects on growth

Turner syndrome=Estrogen, GH

SHOX mutations=Consider GH.

Noonan syndrome=Consider GH.

Silver-Russell syndrome=Consider GH

Skeletal dysplasias

Achondroplasia=Management of complications, which may include craniocervical junction compression, sleep apnea, spinal stenosis.

Hypochondroplasia=Surveillance for spinal stenosis, with surgery as needed.

Spondyloepiphyseal dysplasia=Surveillance for spinal disorders and osteoarthritis, with surgery as needed

Osteogenesis imperfecta=Bisphosphonates, fracture management



  • Management decisions often evolve from primary care physicians’ threshold for specialist consultation to rule out pathologic causes of shortness, pediatric endocrinologists’ perspective about use of growth-promoting medications, insurance,13–16 and parents concerned that their child is “noticeably shorter than the other kids” or “teased because of his/her size.”[100][101][102][103]
  • Discouraging the reliance on tests that provoke GH secretions as the only criterion for diagnosing GHD[104]


  • The content in this section is in bullet points.


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