| Autor: |
Ludwig NG; Pós-Graduação em Ciências da Saúde, Centro de Ciências da Saúde, Universidade Estadual de Londrina (UEL), Londrina, PR, Brasil., Radaeli RF; Serviço de Endocrinologia do Hospital Universitário, UEL, Londrina, PR, Brasil., Silva MM; Serviço de Endocrinologia do Hospital Universitário, UEL, Londrina, PR, Brasil., Romero CM; Serviço de Endocrinologia do Hospital Universitário, UEL, Londrina, PR, Brasil., Carrilho AJ; 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., Bessa D; Laboratório de Hormônios e Genética Molecular (LIM/42), Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brasil., Macedo DB; Laboratório de Hormônios e Genética Molecular (LIM/42), Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brasil., Oliveira ML; Serviço de Endocrinologia do Hospital Universitário, UEL, Londrina, PR, Brasil., Latronico AC; Laboratório de Hormônios e Genética Molecular (LIM/42), Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brasil., Mazzuco TL; 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. |
| Abstrakt: |
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. |
