Author(s)

Wafa Aitifali, Fatima Zahra Lahmamssi, Sana Abourazzak, Laila Bouguenouch, Moustapha Hida

Endocrinology Unit of the Pediatrics Department, Hassan II University Hospital, Fez, Morocco.

47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior and cognitive problems, tall stature and infertility in adulthood. We report here a rare case of 47, XYY syndrome associated with an 11-beta-hydroxylase deficiency revealed by a stature advance along with precocious puberty after obtaining informed consent from parents. To our knowledge, this is the first case reported in the literature.

Jacob’s Syndrome, 47XYY Syndrome, 11-Beta-Hydroxylase Deficiency

Aitifali, W. , Lahmamssi, F. , Abourazzak, S. , Bouguenouch, L. and Hida, M. (2023) Jacob’s Syndrome and Deficiency of 11-Beta-Hydroxylase Enzyme Association Revealed by a Statural Advance: A Case Report. Case Reports in Clinical Medicine, 12, 207-211. doi: 10.4236/crcm.2023.126029.