Details

Autor(en) / Beteiligte

• Merke, Deborah P
• Tajima, Toshihiro
• Baron, Jeffrey
• Cutler, Gordon B

Titel

Hypogonadotropic Hypogonadism in a Female Caused by an X-Linked Recessive Mutation in the DAX1 Gene

Ist Teil von

• The New England journal of medicine, 1999-04, Vol.340 (16), p.1248-1252

Ort / Verlag

Boston, MA: Massachusetts Medical Society

Erscheinungsjahr

1999

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Adrenal hypoplasia congenita is a rare X-linked disorder characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism. 1 All patients described to date have been male, and female carriers have had no clinical symptoms. 1 – 10 Although most patients present with adrenal crisis in the neonatal period, the onset of adrenal insufficiency varies, even within a family, from the neonatal period to 10 years of age. 1 , 3 , 4 , 9 The gene responsible for this disorder, DAX1, is on the short arm of the X chromosome 11 and encodes a 470-amino-acid member of the nuclear hormone receptor superfamily. The DNA-binding domain consists of amino acid . . .