OBJECTIVE: Prader-Willi syndrome (PWS) is a rare genetic neuroendocrine disorder characterized by hypotonia, obesity, short stature, and mental retardation. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty is rarely seen. METHODS: This study reports the clinical, biochemical, and histologic findings in 2 boys with PWS who developed central precocious puberty. RESULTS: Both boys were started on growth hormone therapy during the first years of life according to the PWS indication. They had both bilateral cryptorchidism at birth and had orchidopexy in early childhood. Retrospective histologic analysis of testicular biopsies demonstrated largely normal tissue architecture and germ cell maturation, but severely decreased number of prespermatogonia in one of the patients. Both boys had premature adrenarche around the age of 6. Precocious puberty was diagnosed in both boys with enlargement of testicular volume (>3 mL), signs of virilization and a pubertal response to a gonadotropin-releasing hormone (GnRH) test and they were both treated with GnRH analog. CONCLUSION: The cases described here displayed typical characteristics for PWS, a considerable heterogeneity of the hypothalamic-pituitary function, as well as testicular histology. Central precocious puberty is extremely rare in PWS boys, but growth hormone treatment may play a role in the pubertal timing.
OBJECTIVE: Prader-Willi syndrome (PWS) is a rare genetic neuroendocrine disorder characterized by hypotonia, obesity, short stature, and mental retardation. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty is rarely seen. METHODS: This study reports the clinical, biochemical, and histologic findings in 2 boys with PWS who developed central precocious puberty. RESULTS: Both boys were started on growth hormone therapy during the first years of life according to the PWS indication. They had both bilateral cryptorchidism at birth and had orchidopexy in early childhood. Retrospective histologic analysis of testicular biopsies demonstrated largely normal tissue architecture and germ cell maturation, but severely decreased number of prespermatogonia in one of the patients. Both boys had premature adrenarche around the age of 6. Precocious puberty was diagnosed in both boys with enlargement of testicular volume (>3 mL), signs of virilization and a pubertal response to a gonadotropin-releasing hormone (GnRH) test and they were both treated with GnRH analog. CONCLUSION: The cases described here displayed typical characteristics for PWS, a considerable heterogeneity of the hypothalamic-pituitary function, as well as testicular histology. Central precocious puberty is extremely rare in PWS boys, but growth hormone treatment may play a role in the pubertal timing.
Authors: G Lottrup; J E Nielsen; L L Maroun; L M A Møller; M Yassin; H Leffers; N E Skakkebæk; E Rajpert-De Meyts Journal: Hum Reprod Date: 2014-06-07 Impact factor: 6.918
Authors: A Crinò; R Schiaffini; P Ciampalini; S Spera; L Beccaria; F Benzi; L Bosio; A Corrias; L Gargantini; A Salvatoni; G Tonini; G Trifirò; C Livieri Journal: Eur J Pediatr Date: 2003-02-27 Impact factor: 3.183
Authors: Anne Jørgensen; Joni Macdonald; John E Nielsen; Karen R Kilcoyne; Signe Perlman; Lene Lundvall; Lea Langhoff Thuesen; Kristine Juul Hare; Hanne Frederiksen; Anna-Maria Andersson; Niels E Skakkebæk; Anders Juul; Richard M Sharpe; Ewa Rajpert-De Meyts; Rod T Mitchell Journal: Cell Rep Date: 2018-11-13 Impact factor: 9.423