TITLE:
Jacob’s Syndrome and Deficiency of 11-Beta-Hydroxylase Enzyme Association Revealed by a Statural Advance: A Case Report
AUTHORS:
Wafa Aitifali, Fatima Zahra Lahmamssi, Sana Abourazzak, Laila Bouguenouch, Moustapha Hida
KEYWORDS:
Jacob’s Syndrome, 47XYY Syndrome, 11-Beta-Hydroxylase Deficiency
JOURNAL NAME:
Case Reports in Clinical Medicine,
Vol.12 No.6,
June
30,
2023
ABSTRACT: 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.