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X-Linked Adrenal Hypoplasia Congenita

X-Linked Adrenal Hypoplasia Congenita Definition

X-linked adrenal hypoplasia congenita genetic disorder where it involves the endocrine tissues particularly the adrenal glands. It is usually manifests by adrenal insufficiency where there is reduction of the adrenal gland function which causes incomplete development of the adrenal cortex or the outer layer of the gland. It usually affects male thus, the symptoms includes manifestation of hypogonadotropic hypogonadism which are shown through the less and even lack of sex hormones which causes undeveloped reproductive tissues and cyptorchidism or the undescended testicles and infertility. In women, this disorder is rare but symptoms includes insufficiency of sex hormones and amenorrhea or lack of mentruation. It is said to be caused by the mutation and deletion of the NRRoB1 located at the X chromosome Xp21.3-p21.3 which are responsible for giving DAX1 or the transcription factor protein which controls the activity of certain genes.

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