title: Causes, diagnosis, and treatment of central precocious puberty.
abstract: Central precocious puberty results from the premature activation of the hypothalamic-pituitary-gonadal axis. It mimics physiological pubertal development, although at an inappropriate chronological age (before 8 years in girls and 9 years in boys). It can be attributable to cerebral congenital malformations or acquired insults, but the cause in most cases in girls remains unknown. MKRN3 gene defects have been identified in familial disease, with important basic and clinical results. Indeed, genetic analysis of this gene should be included in the routine clinical investigation of familial and idiopathic cases of central precocious puberty. Gonadotropin-releasing hormone agonists are the gold-standard treatment. The assessment and management of this disease remain challenging for paediatric endocrinologists. In this Series paper, we describe current challenges involving the precise diagnosis and adequate treatment of this disorder.
authors: Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. Electronic address: anacl@usp.br.
authors: Ana Claudia
authors: AC
authors: Latronico
authors: Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors: Vinicius Nahime
authors: VN
authors: Brito
authors: Univ Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Pediatric Endocrinology and Diabetology, Hôpital Robert Debré, and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Paris, France; Institut National de la Santé et de la Recherche Médicale U1141, Paris, France.
authors: Jean-Claude
authors: JC
authors: Carel
mesh_terms: D002648:Child; D005260:Female; D007987:Gonadotropin-Releasing Hormone / Q000819:agonists; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000473:pathology / Q000503:physiopathology; D008297:Male; D010913:Pituitary-Adrenal System / Q000473:pathology / Q000503:physiopathology; D011629:Puberty, Precocious / Q000175:diagnosis* / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy*; D012261:Ribonucleoproteins / Q000235:genetics; D044767:Ubiquitin-Protein Ligases
chemical_list: D012261:Ribonucleoproteins; D007987:Gonadotropin-Releasing Hormone; C119425:MKRN3 protein, human; D044767:Ubiquitin-Protein Ligases