Puberdade precoce central: perfil clínico e laboratorial de casos esporádicos e familiares em um centro de referência

Abstract

Objectives: To analyze the clinical and laboratory characteristics of patients with sporadic and familial central precocious puberty (CPP) followed at a reference service in northeastern Brazil. Methodology: Descriptive study, with retrospective analysis of medical records, and cross-sectional study, with analysis of a questionnaire on consanguinity and family history of precocious puberty. Results: Sixty-two girls with PPC were included. The most common initial manifestation of puberty was thelarche (73.8%), which was in Tanner’s M4 stage in 46.2%. The first consultation took place at 7.8 ± 1.0 years, on average 1.3 year after the onset of the thelarche. Bone age was advanced by 2.2 ± 1.1 years. A family history of PCP was reported in 32.3% of cases. The group of patients with familial PCP had a lower age at maternal menarche, higher frequency of term delivery, higher initial height z-score and higher luteinizing hormone (LH) after the 1st dose of the GnRH analogue than the group with sporadic PCP. Conclusions: The present study identified a family history of PCP in 1/3 of the cases studied. These patients had a distinct clinical and laboratory profile, with a higher initial height and higher LH values after stimulation. Future genetic and epigenetic studies may contribute to a better understanding of the etiopathogenesis of PPC.