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

被引：4
|
作者：
Kara, Ozlem [1 ]
Gorukmez, Orhan [2 ]
Ekici, Arzu [3 ]
Celik, Fatih [4 ]
机构：
[1] Univ Hlth Sci Bursa, Yuksek Ihtisas Training & Res Hosp, Pediat Endocrinol, Bursa, Turkey
[2] Univ Hlth Sci Bursa, Yuksek Ihtisas Training & Res Hosp, Genet, Bursa, Turkey
[3] Univ Hlth Sci Bursa, Yuksek Ihtisas Training & Res Hosp, Pediat Neurol, Bursa, Turkey
[4] Bursa Uludag Univ, Pediat Surg, Sch Med, Bursa, Turkey
来源：
FETAL AND PEDIATRIC PATHOLOGY | 2021年 / 40卷 / 05期
关键词：
Achalasia; adrenal insufficiency; 46; XX;
D O I：
10.1080/15513815.2020.1716901
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
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.
引用
收藏
页码：518 / 522
页数：5
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