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Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay

1999; Oxford University Press; Volume: 84; Issue: 12 Linguagem: Inglês

10.1210/jc.84.12.4497

1945-7197

John C. Achermann,

Sperm and Testicular Function

Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood.In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the description of mutations in the genes KAL, GNRHR, and PROP1.Mutations in another gene, DAX1 (AHC), cause X-linked adrenal hypoplasia congenita and HH.Affected boys usually present with primary adrenal failure in infancy or childhood and HH at the expected time of puberty.DAX1 mutations have also been reported to occur with a wider spectrum of clinical presentations.These cases include female carriers of DAX1 mutations with marked pubertal delay and a male with incomplete HH and mild adrenal insufficiency in adulthood.Given