Congenital isolated growth hormone deficiency
Congenital Isolated Growth Hormone Deficiency[edit | edit source]
Congenital Isolated Growth Hormone Deficiency (CIGHD) is a rare endocrine disorder characterized by insufficient production of growth hormone (GH) from birth. This condition leads to growth failure and short stature in affected individuals.
Etiology[edit | edit source]
CIGHD can be caused by genetic mutations, developmental anomalies of the pituitary gland, or unknown factors. The most common genetic causes include mutations in the GH1 gene, which encodes the growth hormone itself, and mutations in the GHRHR gene, which encodes the growth hormone-releasing hormone receptor.
Pathophysiology[edit | edit source]
Growth hormone is crucial for normal growth and development. It stimulates the liver to produce Insulin-like Growth Factor 1 (IGF-1), which in turn promotes the growth of bones and tissues. In CIGHD, the lack of GH leads to reduced levels of IGF-1, resulting in impaired growth.
Clinical Presentation[edit | edit source]
Infants with CIGHD may present with:
- Normal birth weight and length
- Growth deceleration after birth
- Short stature compared to peers
- Delayed bone age
- Hypoglycemia in some cases
Diagnosis[edit | edit source]
Diagnosis of CIGHD involves:
- Clinical evaluation of growth patterns
- Measurement of serum GH levels
- Stimulation tests to assess GH secretion
- Genetic testing for known mutations
Treatment[edit | edit source]
The primary treatment for CIGHD is recombinant human growth hormone (rhGH) therapy. This treatment aims to normalize growth and achieve a height within the normal range for age and sex.
Prognosis[edit | edit source]
With early diagnosis and appropriate treatment, individuals with CIGHD can achieve near-normal adult height. However, untreated CIGHD can lead to significantly reduced adult stature and potential psychosocial issues.
Epidemiology[edit | edit source]
CIGHD is a rare condition, with an estimated prevalence of 1 in 4,000 to 1 in 10,000 live births. It affects both males and females equally.
See Also[edit | edit source]
==
,
Growth Hormone Deficiency in Children and Adults, New England Journal of Medicine, 2003, Vol. 349(Issue: 22), pp. 2211-2222, DOI: 10.1056/NEJMra012777,
,
Williams Textbook of Endocrinology, Elsevier, 2016, ISBN 978-0323297387,
NIH genetic and rare disease info[edit source]
Congenital isolated growth hormone deficiency is a rare disease.
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