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Phenotypic variability in congenital lipoid adrenal hyperplasia
Rajesh Joshi1, Dhanjit Das, Parag Tamhankar
1Department of Pediatrics, BJ Wadia hospital for Children, Mumbai and *Genetic Research Centre, NIRRH, Parel, Mumbai, India. Correspondence to: Dr Rajesh Joshi, D/3, Om Parshvanath Apartments, Saibaba Nagar, Borivali (West), Mumbai 400 092, India. rrj23@rediffmail.com.
Indian Pediatrics
|June 24, 2014
Summary
Congenital lipoid adrenal hyperplasia (CLAH) in 46XY males causes adrenal insufficiency and sex reversal. Genetic analysis confirmed CLAH, and hormone therapy led to significant improvement.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Congenital lipoid adrenal hyperplasia (CLAH) is a rare genetic disorder.
- It affects 46XY genetic males, leading to adrenal insufficiency and sex reversal.
Observation:
- Two male patients (46 XY) presented with adrenal crisis and either ambiguous or female external genitalia.
- Genetic analysis revealed homozygous mutations in the Steroidogenic Acute Regulatory Protein (STAR) gene in both patients.
Findings:
- Treatment with hydrocortisone and fludrocortisone effectively managed the adrenal insufficiency.
- Early diagnosis and treatment are crucial for managing CLAH.
Implications:
- CLAH should be considered in infants with disorders of sex development and adrenal insufficiency.
- Genetic testing for STAR gene mutations is essential for diagnosing CLAH.
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