Article citationsMore>>

Bardsley, M.Z., Kowal, K., Levy, C., Gosek, A., Ayari, N., Tartaglia, N., Lahlou, N., Winder, B., Grimes, S. and Ross, J.L. (2013) 47, XYY Syndrome: Clinical Phenotype and Timing of Ascertainment. The Journal of Pediatrics, 163, 1085-1094.
https://doi.org/10.1016/j.jpeds.2013.05.037

has been cited by the following article:

• 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.