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What is Lethargic hypoglycemic girl neonate with following genital appearance: and explain in detail?
Ans. (a) Congenital adrenal hyperplasia. Source- style="font-size: 1.04761904761905em; font-family: Times New Roman, Times, serif"> Notice the clitoromegaly with fusion of labia majora coupled with slight hyperpigmentation patch on right thigh. Lethargy and hypoglycemia can be explained by CYP21B enzyme defect variant of congenital adrenal hyperplasia. Image clue for other options- Ambiguous genitalia in a 45 XO / Neonate diagnosed with Turner's Syndrome. Looks similar to Clitoromegaly. Careful inspection of the image in the question reveals clitoromegaly with absence of scrotum and presence of labial swelling.