Monai Elena, Johansen Anders, Clasen-Linde Erik, Rajpert-De Meyts Ewa, Skakkebæk Niels Erik, Main Katharina M, Jørgensen Anne, Jensen Rikke Beck
AACE Clin Case Rep. 2019 Aug 15;5(6):e352-e356. doi: 10.4158/ACCR-2019-0245. eCollection 2019 Nov-Dec.
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.
This study reports the clinical, biochemical, and histologic findings in 2 boys with PWS who developed central precocious puberty.
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.
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.
普拉德-威利综合征（PWS）是一种罕见的遗传性神经内分泌疾病，其特征为肌张力减退、肥胖、身材矮小和智力发育迟缓。PWS患者通常存在青春期发育不完全或延迟以及肾上腺功能初现过早的情况，而中枢性性早熟则较为罕见。
本研究报告了2例患有中枢性性早熟的PWS男孩的临床、生化和组织学检查结果。
两名男孩均在生命的最初几年根据PWS指征开始接受生长激素治疗。他们出生时均患有双侧隐睾，并在幼儿期接受了睾丸固定术。对睾丸活检组织进行回顾性组织学分析显示，组织结构和生殖细胞成熟情况基本正常，但其中一名患者的精原细胞前体细胞数量严重减少。两名男孩均在6岁左右出现肾上腺功能初现过早。两名男孩均因睾丸体积增大（>3 mL）、男性化体征以及对促性腺激素释放激素（GnRH）试验的青春期反应而被诊断为性早熟，他们均接受了GnRH类似物治疗。
本文所述病例表现出PWS的典型特征、下丘脑-垂体功能的显著异质性以及睾丸组织学特征。中枢性性早熟在PWS男孩中极为罕见，但生长激素治疗可能对青春期发育时间有影响。
