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Mutational Analysis ofDAX1in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay1
Journal of Clinical Endocrinology and Metabolism
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 atdoi:10.1210/jcem.84.12.6269 pmid:10599708 fatcat:fchhjwpdfbhxhnz7l27i5jdaum