You deliver an infant who has ambiguous genitalia. The child is born at 38 weeks to a 32 year old G1P1 Caucasian woman. The parent declined all prenatal screening and testing. At birth, a karyotype is 46,XX. You note clitoral enlargement, labial fusion, and formation of a urogenital sinus. She is at risk for early puberty and short stature.
Challenge: What is this autosomal recessive disorder?
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I put together these medical challenges. The cases are hypothetical and do not necessarily represent actual or typical presentations of medical diseases. Disclaimer is at the bottom of this page.
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1 comment:
Ambiguous
This is congenital adrenal hyperplasia, most commonly a defect in conversion of 17-hydroxyprogesterone to 11-deoxycortisol by 21-hydroxylase. There is decreased cortisol synthesis and increased ACTH which leads to increased androgen production.
Source: UpToDate.
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