Statement and Declarations
The authors report no conflicts of interest.
No funding sources were utilized in the composition of this research.
Consent: A written informed consent was taken from the infant’s parents to publish this case or any accompanying images.
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 Jacob 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.
Key clinical message: Jacob 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 Jacob syndrome and congenital adrenal hyperplasia.
Keywords: congenital adrenal hyperplasia, Jacobs syndrome, XY karyotype, virilization