X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita is a

Presentation

One of the main characteristics of this disorder is adrenal insufficiency, which is a reduction in adrenal gland function resulting from incomplete development of the gland's outer layer (the adrenal cortex). Adrenal insufficiency typically begins in infancy or in childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), low sodium levels, and shock. However, adult-onset cases have also been described.^[2] See also Addison's disease.

Affected males may also lack male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). These characteristics are known as hypogonadotropic hypogonadism. Females are rarely affected by this disorder, but a few cases have been reported of adrenal insufficiency or a lack of female sex hormones, resulting in underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation.

Genetics

Mutations in the

). These tissues are important for the production of many hormones that control various functions in the body. When these hormones are not present in the correct amounts, the signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism can result. This condition is inherited in an X-linked recessive pattern.

Diagnosis

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Management

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References

1. PMID 11549627
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2. PMID 10675358
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Further reading

• GeneReviews/NCBI/NIH/UW entry on X-Linked Adrenal Hypoplasia Congenita
• Inherited Adrenal Hypoplasia: Not Just for Kids!: X-linked Adrenal Hypoplasia Congenita - MedScape

External links

This article incorporates public domain text from The U.S. National Library of Medicine