A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient
FETAL AND PEDIATRIC PATHOLOGY, vol.40, no.5, pp.518-522, 2021 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 40 Issue: 5
- Publication Date: 2021
- Doi Number: 10.1080/15513815.2020.1716901
- Journal Name: FETAL AND PEDIATRIC PATHOLOGY
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
- Page Numbers: pp.518-522
- Keywords: 46, Achalasia, adrenal insufficiency, CYP11A1, XX
- Bursa Uludag University Affiliated: Yes
Abstract
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 a homozygous p.Thr330Met (c.989C>T) variant in the CYP11A1 (NM_000781) gene. Conclusion: Different types of inheritance patterns have been observed in CYP11A1-related adrenal insufficiency cases. We consider our case is an due to an autosomal recessive inheritance.