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Article

A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient.

Fetal and pediatric pathology - 1 Oct 2021

Kara Ozlem, Gorukmez Orhan, Ekici Arzu, Celik Fatih

Abstract excerpt

BACKGROUND: One of the causes of congenital adrenal insufficiency, a genetically heterogeneous disorder is a mutation in the CYP11A1 gene, which is responsible for the initiation of steriodogenesis by converting cholesterol to pregnenolone. Case: In a now 3 years and 3 months-old girl, adrenal insufficiency was diagnosed in the neonatal period. Clinical exome sequencing for primary adrenal insufficiency revealed...

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Identifiers

PMID: 32000563
DOI: 10.1080/15513815.2020.1716901

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A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient.PMID 32000563Read ↗

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