Ludwig Natasha G, Radaeli Rafael F, Silva Mariana M X, Romero Camila M, Carrilho Alexandre J F, Bessa Danielle, Macedo Delanie B, Oliveira Maria L, Latronico Ana Claudia, Mazzuco Tânia L
Pós-Graduação em Ciências da Saúde, Centro de Ciências da Saúde, Universidade Estadual de Londrina (UEL), Londrina, PR, Brasil.
Serviço de Endocrinologia do Hospital Universitário, UEL, Londrina, PR, Brasil.
Arch Endocrinol Metab. 2016 Nov-Dec;60(6):596-600. doi: 10.1590/2359-3997000000196. Epub 2016 Aug 25.
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test. Therapy with recombinant human growth hormone (rhGH) replacement (0.15 IU/kg/day) was started. Later, he presented psychomotor agitation, aggressive behavior, and increased testicular volume. Laboratory analyses were consistent with the diagnosis of CPP (gonadorelin-stimulated LH peak 15.8 IU/L, testosterone 54.7 ng/dL). The patient was then treated with gonadotropin-releasing hormone analog (GnRHa). Hypothalamic dysfunctions have been implicated in hormonal disturbances related to pubertal development, but no morphologic abnormalities were detected in the present case. Additional methylation analysis (MS-MLPA) of the chromosome 15q11 locus confirmed PWS diagnosis. We presented the fifth case of CPP in a genetically-confirmed PWS male. Combined therapy with GnRHa and rhGH may be beneficial in this rare condition of precocious pubertal development in PWS.
普拉德-威利综合征（PWS）是一种遗传性疾病，常表现为肥胖、生长激素缺乏、生殖器异常和低促性腺激素性性腺功能减退。PWS患者通常存在青春期发育不完全或延迟以及肾上腺早现，而中枢性性早熟（CPP）则非常罕见。本研究旨在报告一名患有CPP的PWS男孩的临床和生化随访情况，并讨论青春期生长的管理。6岁时，他出现肥胖、身材矮小以及许多PWS诊断的临床标准，DNA甲基化检测证实了该诊断。开始使用重组人生长激素（rhGH）替代治疗（0.15 IU/kg/天）。后来，他出现精神运动性激越、攻击性行为以及睾丸体积增大。实验室分析结果与CPP诊断相符（促性腺激素释放激素刺激的LH峰值为15.8 IU/L，睾酮为54.7 ng/dL）。随后该患者接受了促性腺激素释放激素类似物（GnRHa）治疗。下丘脑功能障碍与青春期发育相关的激素紊乱有关，但本病例未检测到形态学异常。对15号染色体q11位点进行的额外甲基化分析（MS-MLPA）证实了PWS诊断。我们报告了第5例经基因确诊的PWS男性患者发生CPP的病例。GnRHa和rhGH联合治疗可能对PWS这种罕见的性早熟情况有益。
