Case report: Coexistence of Jacobs syndrome, congenital adrenal hyperplasia, and ambiguous genitalia in a male infant

Abstract

Key Clinical Message Jacobs syndrome and congenital adrenal hyperplasia are separate entities but share common clinical features such as ambiguous genitalia. Further studies are needed to conclude the relationship between Jacobs syndrome and congenital adrenal hyperplasia. Abstract 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.

Keywords

• congenital adrenal hyperplasia
• Jacobs syndrome
• virilization
• XY karyotype