Monozygotic Twins Discordant for Congenital Adrenal Hyperplasia due to Mosaicism.

CONCLUSIONS: The genetic findings are consistent with mosaicism for two CYP21A2 cell lines in both twins. The first cell line is expected, based on parental results, while the second line is due to a postzygotic full gene deletion of the paternally-inherited wildtype CYP21A2. The resultant genotype, compound heterozygosity for c.293-13C>G and a CYP21A2 full gene deletion, is consistent with a salt-wasting CAH phenotype. Differential distribution of the second cell line between the twins is most likely the cause for their discrepant phenotypes. We believe this is the first report of somatic CYP21A2 mosaicism, and represents a novel cause for discrepant CAH phenotypes in monozygotic twins.
PMID: 31804968 [PubMed - as supplied by publisher]

Source: European Journal of Endocrinology - November 30, 2019 Category: Endocrinology Authors: Kluge ML, Graber E, Foley K, Hansen LV, Sellers HL, Milosevic D, Cradic KW, Grebe SK Tags: Eur J Endocrinol Source Type: research