Non-acquired isolated growth hormone deficiency

Non-acquired isolated growth hormone deficiency (IGHD), also known as congenital isolated growth hormone deficiency or idiopathic isolated GH deficiency, is a rare endocrine disorder characterized by insufficient production or secretion of growth hormone (GH) from the anterior pituitary gland, occurring without deficiency of other pituitary hormones and without an acquired cause such as tumor, radiation, or trauma. This condition primarily affects the endocrine system and skeletal growth, leading to significant short stature that typically becomes apparent in early childhood. Affected individuals usually present with proportionate short stature, decreased growth velocity, delayed bone age, and may have a characteristic appearance including a prominent forehead, midfacial hypoplasia, and increased truncal adiposity. Neonatal presentations can include hypoglycemia and micropenis in males. IGHD is classified into several genetic subtypes. Type IA (autosomal recessive, severe) is caused by deletions or mutations in the GH1 gene leading to complete absence of GH, and patients may develop anti-GH antibodies when treated with exogenous GH. Type IB (autosomal recessive, partial) involves mutations in GH1 or GHRHR (growth hormone-releasing hormone receptor) genes with low but detectable GH levels. Type II (autosomal dominant) is caused by GH1 splice-site mutations, and Type III (X-linked) is associated with mutations in BTK or SOX3 genes. The condition can also occur sporadically without an identifiable genetic cause. The primary treatment for non-acquired IGHD is recombinant human growth hormone (rhGH) replacement therapy, administered via daily subcutaneous injections, which significantly improves linear growth when initiated early. Long-acting GH preparations are also now available. Treatment is generally continued until near-final height is achieved or epiphyseal fusion occurs. Early diagnosis and treatment are critical for optimizing adult height outcomes. Regular monitoring of growth velocity, IGF-1 levels, and potential side effects is essential throughout therapy. Some patients may require re-evaluation of GH status during the transition to adulthood, as a proportion may recover normal GH secretion.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Non-acquired isolated growth hormone deficiency