Journal Article

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

Amatul‐Hadi, Faiza, Pande, Harshawardhan, Khan, Qaisar Ali, Kooner, Amritpal, Ahmed, Rahma, Levin‐Carrion, Yaxel, Lee, Amber, Nadella, Adithya, Afzal, Muhammad, Alfaro, Moses

2023

Overview

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. 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.

• Publisher: John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley
• Subject: Abdomen / Acute Medicine / Adrenal glands / Asthma / Autism / Cardiovascular Disorders / Case Report / Case reports / Child development / Chromosomes / congenital adrenal hyperplasia / Congenital diseases / Convulsions & seizures / Critical Care Medicine / Disease / Endocrinology and Metabolic Disorders / Females / General Medicine / Hormones / Hyperplasia / Jacobs syndrome / Learning disabilities / Males / Marfan syndrome / Mutation / Neurology / Occupational therapy / Paediatrics and Adolescent Medicine / Patients / Pediatrics / Penis / Salt / Ultrasonic imaging / virilization / XY karyotype