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Article

A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.

International journal of environmental research and public health - 5 Jul 2021

Matusik Pawel, Gach Agnieszka, Zajdel-Cwynar Olimpia, Pinkier Iwona, Kudela Grzegorz, Gawlik Aneta

Abstract excerpt

A novel CYP11A1: c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed in the first year of life based on clinical picture of acute adrenal crisis with vomiting, dehydration, weight loss, hypotension, and electrolyte disturbances. At the...

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Identifiers

PMID: 34281122
DOI: 10.3390/ijerph18137186
PMCID: PMC8295740

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