A frantic mother, brings her 2-week-old daughter to the casualty because of protracted vomiting. She states her baby has been vomiting for the last few days and was not tolerating any drinks or breast milk. The baby had been seen uncomfoable but had not been feverish. The course of her pregnancy was uneventful and she was vaginally delivered without any complications. On examination, the baby appears ill, but well developed. Her blood pressure is 50/30 mm Hg, pulse is 176/min, and respiratory rate is 35/min. Her oral mucosa look dry and she is not tearing much. Her anterior fontanelle appears sunken, and mild tenting can be elicited in her skin. An enlarged clitoris and paial fusion of the labial folds is noted. Serum electrolytes are significant for sodium of 123 mEq/L, chloride of 92 mEq/L, and bicarbonate of 27 mEq/L. Which of the following is the most common cause of ambiguous genitalia?
High-Yield Explanation
21-hydroxylase deficiency is the most common cause of ambiguous genitalia and accounts for 80-95% of CAH. There are 2 types of deficiencies; the classic and salt wasting form tends to present in the newborn but the non-classic form can occur in late childhood and adolescence and is less associated with salt wasting. The ambiguous genitalia results from the virilization effects of excess DHEA produced. In the testes, 5-alpha-reductase conves testosterone to dihydrotestosterone and a single mutation in the enzyme could result in ambiguous genitalia. 11-hydroxylase deficiency can present similarly to late-onset 21-hydroxylase deficiency, with hirsutism and abnormal menses, but it is less common. Maternal ingestion of progesterone has been associated with virilization in utero.