Clinical features and molecular genetic analysis of 12 patients with cytochrome P450 oxidoreductase deficiency
10.3760/cma.j.cn112141-20240530-00309
- VernacularTitle:细胞色素P450氧化还原酶缺乏症12例临床分析和分子遗传学研究
- Author:
Leilei DING
1
;
Duoduo ZHANG
1
;
Shan DENG
1
;
Li LI
1
;
Qinjie TIAN
1
Author Information
1. 中国医学科学院北京协和医学院北京协和医院妇产科 国家妇产疾病临床医学研究中心，北京 100730
- Publication Type:Journal Article
- Keywords:
Adrenal hyperplasia, congenital;
Ovarian cysts;
Antley-Bixler syndrome phenotype;
NADPH-ferrihemoprotein reductase;
Cytochrome P450 oxidoreductase deficie
- From:
Chinese Journal of Obstetrics and Gynecology
2024;59(12):917-924
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical manifestations, genotype characteristics and treatment of cytochrome P450 oxidoreductase deficiency (PORD) patients with 46,XX karyotype in China.Methods:The clinical data of twelve patients with 46, XX karyotype who were admitted to Peking Union Medical College Hospital from January 2021 to March 2024 and finally diagnosed as PORD by whole exome sequencing were retrospectively analyzed. The clinical manifestations, hormone characteristics and genetic etiology of the disease were summarized.Results:A total of 12 women were diagnosed with PORD, including one young girl with ambiguous genitalia and skeletal malformations at an early stage, and eleven adolescence and adult patients with menstrual disorders and (or) ovarian cysts. Five patients presented with male genitals. Ten patients presented with varying degrees of skeletal deformity. Eleven patients with abnormal menstruation and (or) ovarian cysts presented with unilateral or bilateral multilocular ovarian enlargement, and the larger patient′s ovarian size reached 12.0 cm×7.7 cm. The ovarian cysts disappeared after 3-6 months of combined oral contraceptives (COC) treatment, and the patients were followed up regularly after drug withdrawal and no recurrences were observed during the follow-up period of 1-2 years. Progesterone levels were elevated in all patients. All patients carried biallelic mutations of POR gene. The most common mutation was c.1370G>A in exon 11, which occurred in 11/12 patients. Two novel nonsense mutations, c.1684dupG and c.2040dupC were identified.Conclusions:PORD is one of the causes of unexplained menstrual disorders and ovarian cysts in post-pubertal women. PORD should be considered in patients with genital abnormalities and skeletal malformations. COC could effectively inhibit recurrent ovarian cysts in PORD women, routine ovarian cystectomy should be avoided to protect ovarian fertility. c.1370G>A might be the most common type of POR gene mutation in China.
