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Samara-Boustani, D., Bachelot, A., Pinto, G., Thibaud, E., Polack, M. and Touraine, P.H. (2008) Endocrinologie-Nutrition. EMC Elsevier Masson SAS, Blocs enzymatiques précoces de la surrénale, Paris. 10-015-B-20.

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• 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.