Background: Primary adrenal insufficiency (PAI) can be caused by multiple etiologies. One of the rarest is X-linked adrenal hypoplasia congenita (AHC), a disorder of adrenal development that results from mutations in the NR0B1/DAX1 gene and in which half of the affected males present with salt loss and glucocorticoid insufficiency at birth or in early infancy. In adolescence, hypogonadotropic hypogonadism with absent or arrested pubertal development occurs. Pharmacological intervention is mandatory.
Dergi Türü : Uluslararası
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