Mantovani, G; Ozisik, G; Achermann, JC; Romoli, R; Borretta, G; Persani, L; Spada, A; ... Beck-Peccoz, P; + view all Mantovani, G; Ozisik, G; Achermann, JC; Romoli, R; Borretta, G; Persani, L; Spada, A; Jameson, JL; Beck-Peccoz, P; - view fewer (2002) Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. The Journal of Clinical Endocrinology & Metabolism , 87 (1) 44 - 48. 10.1210/jc.87.1.44.

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Abstract

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 had no clinical evidence of adrenal dysfunction, compensated primary adrenal failure was diagnosed by biochemical testing. Semen analysis showed azoospermia, and he did not achieve fertility after 8 months of treatment with gonadotropins. A novel Y380D DAX-1 missense mutation, which causes partial loss of function in transient gene expression assays, was found in this patient. This case demonstrates that partial loss-of-function mutations in DAX1 can present with hypogonadotropic hypogonadism and covert adrenal failure in adulthood. Further, an important role for DAX-1 in spermatogenesis in humans is confirmed, supporting findings in the Dax1 (Ahch) knockout mouse.

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