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Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review
Hormones ( IF 3.2 ) Pub Date : 2020-10-29 , DOI: 10.1007/s42000-020-00249-z
Edip Unal 1 , Meliha Demiral 1 , Ruken Yıldırım 2 , Funda Feryal Taş 1 , Serdar Ceylaner 3 , Mehmet Nuri Özbek 1
Affiliation  

Introduction

P450 oxidoreductase (POR) deficiency is a rare form of congenital adrenal hyperplasia. In both genders, it can lead to ambiguous genitalia, impaired steroidogenesis, and skeletal findings similar to those of Antley-Bixler syndrome.

Cases

We describe two cases of POR deficiency. The first case was an 8.5-year-old girl who was admitted to our clinic due to ambiguous genitalia. Karyotype was 46, XX. There were mild dysmorphic facial findings and mild metacarpophalangeal joint deformity. The patient’s basal cortisol and ACTH levels were normal, while 17-hydroxyprogesterone (17OHP) levels were high. Peak cortisol response to the ACTH stimulation test was found to be insufficient. Our second case, a sibling of the first case, was admitted for routine checkup at the age of 15 months. As in our first case, there were dysmorphic facial findings and metacarpophalangeal joint deformity. The genital structure was normal. Karyotype was 46, XY. Basal cortisol and ACTH levels were normal, while 17OHP level was slightly high. Peak cortisol response to the ACTH stimulation test was found to be insufficient. Based on our findings, POR deficiency was considered in both of these cases and NM_000941.3:c.929_937delTCTCGGACT(p.Ile310_Ser313delinsThr) (homozygous) mutation was detected in the POR gene that had not previously been described.

Conclusion

We detected a novel variant in the POR gene in two sibling cases with adrenal insufficiency, dysmorphic face, and mild skeletal findings. While the detected mutation caused ambiguous genitalia in the female case, it did not cause ambiguous genitalia in the male case.



中文翻译:

两个兄弟姐妹 POR 基因新突变导致细胞色素 P450 氧化还原酶缺乏症:病例报告和文献复习

介绍

P450 氧化还原酶 (POR) 缺乏症是一种罕见的先天性肾上腺增生症。在两种性别中,它都会导致生殖器模糊、类固醇生成受损以及类似于 Antley-Bixler 综合征的骨骼发现。

案例

我们描述了两个 POR 缺陷的案例。第一个病例是一名 8.5 岁的女孩,她因生殖器不明确而入院。核型为 46, XX。有轻度畸形面部表现和轻度掌指关节畸形。患者的基础皮质醇和 ACTH 水平正常,而 17-羟基孕酮 (17OHP) 水平高。发现对 ACTH 刺激试验的峰值皮质醇反应是不够的。我们的第二个病例,第一个病例的兄弟姐妹,在 15 个月大时入院接受例行检查。与我们的第一个病例一样,面部畸形和掌指关节畸形。生殖器结构正常。核型为 46,XY。基础皮质醇和ACTH水平正常,而17OHP水平略高。发现对 ACTH 刺激试验的峰值皮质醇反应是不够的。根据我们的发现,在这两种情况下都考虑了 POR 缺陷,并且在以前没有描述过的POR基因。

结论

我们在两个具有肾上腺功能不全、面部畸形和轻度骨骼发现的兄弟姐妹病例中检测到POR基因的一种新变异。虽然检测到的突变在女性病例中导致生殖器模糊,但在男性病例中并没有导致生殖器模糊。

更新日期:2020-10-30
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