A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue

被引：3

作者：

Acar, Sezer ^{[1
]}

Erbas, Ibrahim Mert ^{[1
]}

Paketci, Ahu ^{[1
]}

Onay, Huseyin ^{[6
]}

Cankaya, Tufan ^{[2
]}

Gursoy, Semra ^{[3
]}

Ozhan, Bayram ^{[7
]}

Abaci, Ayhan ^{[1
]}

Ozer, Erdener ^{[4
]}

Olguner, Mustafa ^{[5
]}

Bober, Ece ^{[1
]}

Demir, Korcan ^{[1
]}

机构：

[1] Dokuz Eylul Univ, Fac Med, Dept Pediat Endocrinol, Izmir, Turkey

[2] Dokuz Eylul Univ, Fac Med, Dept Med Genet, Izmir, Turkey

[3] Dokuz Eylul Univ, Fac Med, Dept Pediat Genet, Izmir, Turkey

[4] Dokuz Eylul Univ, Fac Med, Dept Pathol, Izmir, Turkey

[5] Dokuz Eylul Univ, Fac Med, Dept Pediat Surg, Izmir, Turkey

[6] Ege Univ, Dept Med Genet, Fac Med, Izmir, Turkey

[7] Pamukkale Univ, Dept Pediat Endocrinol, Fac Med, Denizli, Turkey

来源：

TURKISH JOURNAL OF PEDIATRICS | 2020年 / 62卷 / 05期

关键词：

disorders of sex development; p450 oxidoreductase deficiency; clitoromegaly; hirsutism; ambiguous genitalia; MUTATION; GENE; PHENOTYPES; INFANCY;

D O I：

10.24953/turkjped.2020.05.015

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Background. Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Case. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous variant in CYP19A1 [IVS10 + 1 G> A; c.344 G> A (p.R115Q)], with normal gonadotropin levels at the time of admission and histologically normal ovarian tissues. Conclusion. Aromatase deficiency should also be considered even if the initial follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels are normal, and ovarian cysts are lacking.

引用

页码：826 / 830

页数：5

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