X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita is a genetic disorder that mainly affects males and involves many endocrine tissues, especially the adrenal glands. A main characteristic is adrenal insufficiency, caused by incomplete development of the outer layer of the gland, which usually begins in infancy or childhood and can bring vomiting, feeding difficulty, dehydration, low blood sugar, low sodium and shock, although adult-onset cases are described. Affected males may also lack male sex hormones, leading to underdeveloped reproductive tissues, undescended testicles, delayed puberty and infertility. The cause is deletion or mutation of the NR0B1 gene on the X chromosome, which makes the DAX1 transcription factor, and the condition is inherited in an X-linked recessive pattern. This entry restates the source and is not medical advice.