Case report: Coexistence of Jacobs syndrome, congenital adrenal hyperplasia, and ambiguous genitalia in a male infant.
Qaisar Ali KhanFaiza Amatul-HadiAmritpal KoonerAmber LeeRahma AhmedAdithya NadellaHarshawardhan PandeYaxel Levin-CarrionMuhammad AfzalMoses AlfaroPublished in: Clinical case reports (2023)
A 5-month-old male infant was evaluated for ambiguous genitalia. Examination revealed cryptorchidism, inguinal hernia, long phallus, and Grade 3 scrotal hypospadias. Serum 17-OH progesterone was high and chromosomal analysis showed 47XYY/45XO. A diagnosis of Jacobs and CAH was made. The parents were counseled about the patient's condition. He was given hydrocortisone and referred to the pediatric surgeon for further management.