Article
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.
The Journal of clinical endocrinology and metabolism - 1 Jan 2002
Mantovani Giovanna, Ozisik Gokhan, Achermann John C, Romoli Roberto, Borretta Giorgio, Persani Luca, Spada Anna, Jameson J Larry, Beck-Peccoz Paolo
Abstract excerpt
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood. Impaired sexual development because of hypogonadotropic hypogonadism becomes apparent at the time of puberty. We report adult-onset adrenal hypoplasia congenita in a patient who presented with hypogonadism at 28 yr of age. Although he...
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