Genetic analysis of novel pathogenic gene HROB in a family with primary ovarian insufficiency.
10.3724/zdxbyxb-2023-0468
- Author:
Xinghan WU
1
;
Xiangyun PENG
2
;
Yu ZHENG
3
;
Shuju ZHANG
3
;
Yu PENG
3
;
Hua WANG
4
Author Information
1. Department of Medical Genetics, Hunan Children's Hospital, Changsha 410007, China. 930409377@qq.com.
2. Department of Endocrinology, Hunan Children's Hospital, Changsha 410007, China.
3. Department of Medical Genetics, Hunan Children's Hospital, Changsha 410007, China.
4. Department of Medical Genetics, Hunan Children's Hospital, Changsha 410007, China. wanghua213@aliyun.com.
- Publication Type:Journal Article
- Keywords:
Case report;
DNA damage repair;
HROB gene;
Homologous recombination;
Primary ovarian insufficiency;
Whole exome sequencing
- MeSH:
Humans;
Female;
Child;
Infant;
Primary Ovarian Insufficiency/genetics*;
Luteinizing Hormone;
Estradiol
- From:
Journal of Zhejiang University. Medical sciences
2023;52(6):727-731
- CountryChina
- Language:English
-
Abstract:
A 13-year and 6-month-old girl attended the Hunan Children's Hospital due to delayed menarche. The laboratory test results indicated increased follicle-stimulating hormone and luteinizing hormone, decreased anti-Mullerian hormone, and pelvic ultrasound showed a cord-like uterus and absence of bilateral ovaries. Her 11-year and 5-month-old younger sister had the same laboratory and imaging findings, and both girls were diagnosed with primary ovarian insufficiency. Whole exome sequencing and Sanger sequencing confirmed that the proband and her sister carried heterozygous variants of HROB gene c.718C>T (p.Arg240*) and c.1351C>T (p.Arg451*), which were inherited from their parents respectively and consistent with autosomal recessive inheritance. Oral estradiol valerate at an initial dose of 0.125 mg/d was given to the proband, and the secondary sexual characteristics began to develop after 6 months.
