Central Precocious Puberty in two Boys with Prader-Willi Syndrome on Growth Hormone Treatment
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Central Precocious Puberty in two Boys with Prader-Willi Syndrome on Growth Hormone Treatment. / Monai, Elena; Johansen, Anders; Clasen-Linde, Erik; Rajpert-De Meyts, Ewa; Skakkebæk, Niels Erik; Main, Katharina M; Jørgensen, Anne; Jensen, Rikke Beck.
In: AACE Clinical Case Reports, Vol. 5, No. 6, 2019, p. e352-e356.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Central Precocious Puberty in two Boys with Prader-Willi Syndrome on Growth Hormone Treatment
AU - Monai, Elena
AU - Johansen, Anders
AU - Clasen-Linde, Erik
AU - Rajpert-De Meyts, Ewa
AU - Skakkebæk, Niels Erik
AU - Main, Katharina M
AU - Jørgensen, Anne
AU - Jensen, Rikke Beck
N1 - Copyright © 2019 AACE.
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
U2 - 10.4158/ACCR-2019-0245
DO - 10.4158/ACCR-2019-0245
M3 - Journal article
C2 - 31967069
VL - 5
SP - e352-e356
JO - AACE Clinical Case Reports
JF - AACE Clinical Case Reports
SN - 2376-0605
IS - 6
ER -
ID: 260058536