RT Book, Section A1 Appachi, Elumalai A2 Usatine, Richard P. A2 Sabella, Camille A2 Smith, Mindy Ann A2 Mayeaux, E.J. A2 Chumley, Heidi S. A2 Appachi, Elumalai SR Print(0) ID 1114879471 T1 Congenital Adrenal Hyperplasia T2 The Color Atlas of Pediatrics YR 2015 FD 2015 PB McGraw-Hill Education PP New York, NY SN 978-0-07-176701-9 LK accesspediatrics.mhmedical.com/content.aspx?aid=1114879471 RD 2024/11/10 AB A 3400-gram infant is being evaluated by the pediatrician after an uncomplicated term gestation and vaginal delivery. The infant is noted to have ambiguous genitalia, characterized by clitoromegaly, enlarged labia, and no palpable testes. A single urethral/vaginal opening is present (Figure 197-1). A diagnosis of congenital adrenal hyperplasia is suspected based on these findings. A pediatric endocrinologist is consulted, who orders a serum 17-hydroxyprogesterone level, which is markedly elevated, and a rapid karyotype, which reveals a 46 XX karyotype, confirming the diagnosis of CAH caused by 21-hydroxylase deficiency. The infant is treated with glucocorticoids and the parents receive psychosocial and genetic counseling regarding the diagnosis.