Details

Autor(en) / Beteiligte

• Teles, Milena Gurgel
• Bianco, Suzy D.C
• Brito, Vinicius Nahime
• Trarbach, Ericka B
• Kuohung, Wendy
• Xu, Shuyun
• Seminara, Stephanie B
• Mendonca, Berenice B
• Kaiser, Ursula B
• Latronico, Ana Claudia

Titel

A GPR54-Activating Mutation in a Patient with Central Precocious Puberty

Ist Teil von

• The New England journal of medicine, 2008-02, Vol.358 (7), p.709-715

Ort / Verlag

United States: Massachusetts Medical Society

Erscheinungsjahr

2008

Link zum Volltext

Quelle

EZB-FREE-00999 freely available EZB journals

Beschreibungen/Notizen

• GPR54, a G protein–coupled receptor, and its ligand, kisspeptin, constitute an excitatory neuroregulator system for the secretion of gonadotropin-releasing hormone and appear to be important in the onset of puberty. This report describes an autosomal dominant GPR54 mutation, Arg386Pro, in an adopted girl with idiopathic central precocious puberty. GPR54 and its ligand, kisspeptin, appear to be important in the onset of puberty. This report describes an autosomal dominant GPR54 mutation, Arg386Pro, in an adopted girl with idiopathic central precocious puberty. Puberty represents a complex biologic process of sexual development that can be influenced by genetic, nutritional, environmental, and socioeconomic factors. 1 The activation of pulsatile hypothalamic GnRH secretion is a key event in the onset of puberty. 2 A network of hypothalamic neurons is critical for GnRH release and, consequently, pituitary gonadotropin secretion and gonadal steroid production during pubertal maturation. 3 Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. 4 There are several causes of precocious puberty, and it is of utmost importance to distinguish between central (gonadotropin-dependent) . . .