A Child with Ambiguous Genitalia: An Atypical Presentation

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of congenital adrenal hyperplasia (CAH), characterized by impaired cholesterol conversion to pregnenolone.
• This leads to critical deficiencies in glucocorticoid and mineralocorticoid synthesis, impacting adrenal and gonadal steroid production.

Observation:

• A 5-year-old XY male presented with ambiguous genitalia and hyperpigmentation, alongside a family history of CAH.
• Laboratory results showed normal cortisol and 17 OH progesterone but elevated ACTH and renin, with low aldosterone unresponsive to hCG stimulation.

Findings:

• This case represents the first reported instance of non-classic LCAH in the Pakistani population.
• The findings underscore the role of Steroidogenic Acute Regulatory protein (StAR) gene mutations in LCAH etiology.

Implications:

• LCAH should be considered in the differential diagnosis for XY children presenting with primary adrenal insufficiency.
• Early diagnosis and management are crucial for long-term survival and addressing potential developmental issues.