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Congenital Adrenal Hypoplasia (AHC)

Endocrinology Genomics

Congenital Adrenal Hypoplasia (also known as Adrenal Hypoplasia Congenita, AHC) is a rare cause of primary adrenocortical failure. Patients often present in infancy or childhood with salt-wasting crisis, but there are reports of adult-onset cases. AHC can be due to pathogenic variants in genes involved in the development of the pituitary and adrenal gland, ACTH synthesis and secretion, as part of a syndrome associated with adrenal hypoplasia/aplasia or due to a chromosomal abnormality (Kyritsi et al 2018 PMID: 25905355):

The AHC panel includes 13 genes known to cause AHC due to primary glucocorticoid and/or mineralocorticoid insufficiency: AAAS, AIRE, CDKN1C, CYP11A1, MC2R, MRAP, NNT, NR0B1, NR5A1, SAMD9, SGPL1, STAR and TBX19.

 NHSE test directory code: R150 Congenital adrenal hypoplasia. Testing criteria can be found on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.


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