From the Guidelines
Short stature should be evaluated and managed based on the underlying cause, with a focus on early diagnosis and treatment to improve growth velocity and final adult height, as well as addressing potential psychological impacts. Evaluation of short stature should begin with a thorough medical history, family height assessment, and growth velocity measurements to identify potential causes, including familial short stature, constitutional growth delay, chronic diseases, endocrine disorders, genetic conditions, and nutritional deficiencies 1. Common causes of short stature include:
- Familial short stature
- Constitutional growth delay
- Chronic diseases
- Endocrine disorders, such as growth hormone deficiency or hypothyroidism
- Genetic conditions, such as Turner syndrome
- Nutritional deficiencies Treatment depends on the underlying cause, with options including growth hormone therapy, typically 0.16-0.3 mg/kg/week divided into daily subcutaneous injections, for growth hormone deficiency and certain other conditions 1. For constitutional growth delay, reassurance and monitoring are often sufficient, as these children eventually reach normal adult height. Nutritional interventions are important for malnutrition-related short stature. Early diagnosis is crucial, ideally before puberty begins, as treatment effectiveness diminishes once growth plates close. Regular monitoring of growth velocity and bone age assessments help track progress and adjust treatment plans. Psychological support may also be beneficial, as short stature can affect a child's self-esteem and social interactions. Monitoring linear growth throughout infancy and childhood is essential to identify growth concerns early, with individuals with height consistently below the third percentile or with poor growth velocity requiring evaluation for growth failure 1.
From the FDA Drug Label
- 1 Pediatric Patients Idiopathic Short Stature (ISS) - Nutropin AQ is indicated for the treatment of ISS, also called non-GHD short stature, defined by height SDS ≤ –2. 25, and associated with growth rates unlikely to permit attainment of adult height in the normal range, in pediatric patients whose epiphyses are not closed and for whom diagnostic evaluation excludes other causes associated with short stature that should be observed or treated by other means
Treatment for Short Stature:
- Indication: Nutropin AQ (somatropin) is indicated for the treatment of idiopathic short stature (ISS) in pediatric patients.
- Criteria: Height SDS ≤ –2.25, growth rates unlikely to permit attainment of adult height in the normal range, epiphyses not closed, and diagnostic evaluation excludes other causes of short stature.
- Dosage: The dosage and administration schedule should be individualized for each patient, with a weekly dosage of up to 0.3 mg/kg of body weight divided into daily subcutaneous injections recommended 2.
From the Research
Definition and Evaluation of Short Stature
- Short stature is a common presentation to pediatricians with a significant overlap between physiology and pathology 3
- Evaluation of short stature aims to avoid unnecessary investigations in children with a physiological cause without missing pathology 3
- Guidelines for the evaluation of short stature allow stepwise evaluation but are limited by their resource-intense nature 3
Treatment Options for Short Stature
- Combined therapy with GnRH analogue and growth hormone can increase adult height in children with short stature and normal pubertal onset 4
- Aromatase inhibitor therapy can block estrogen production, thereby delaying epiphyseal fusion and increasing height outcomes in children with growth hormone deficiency or idiopathic short stature 5
- Recombinant human growth hormone therapy can be effective in increasing height in children with growth hormone deficiency, but response is generally poorer in children with idiopathic short stature 6
Genetic Investigation in Idiopathic Short Stature
- Idiopathic short stature is not a diagnosis, but rather describes a large, heterogeneous group of children who are short and often slowly growing 6
- Genetic investigation, such as targeted gene or gene panel, comparative genomic hybridization, or whole exome or whole genome sequencing, can help identify underlying genetic causes of short stature 6
- A firm diagnosis has heuristic value, including truncating further diagnostic evaluation, alerting the clinician to other possible comorbidities, informing the family for genetic counseling, and directing appropriate targeted therapy 6
Orthopedic Evaluation of Short Stature
- Orthopedic surgeons frequently encounter short statured patients and a systematic approach is needed for proper evaluation of these children 7
- The differential diagnosis includes both proportionate and disproportionate short stature types 7
- A proper history and physical examination and judicious use of plain film radiography will establish the diagnosis in most cases 7