Numbers of cases | Ethnicity | age | POR mutation | Amino acid changes | Clinical findings | Hormone status | Fertility therapy and outcome | Reference |
---|---|---|---|---|---|---|---|---|
1 | Chinese (case 1) | 28 | Homozygous, c.976 T > G | p.Y326D | Primary infertility, irregular menses, frequent ovarian cyst, history of vaginal atresia, absence of clinical hyperandrogenism, no skeletal malformation | ACTH, cortisol and basal P were in normal range but basal 17-OHP were elevated and no obvious sign of adrenal insufficiency . While E2 levels were low and P levels were elevated during ovarian stimulation and before ovulation triggering. | IVF and frozen embryo transfer with artificial endometrial preparation after suppressing P by GnRHa and dexamethasone. Singleton live birth. | [26] |
2 | European (case 2,3) | 30,36 | Compound heterozygous, c.1249-1G > C/ c.1324C > T c.1825C > T/ c.1859G > C | p.(?)/ p.Pro442Ser p.Gln609∗/p.Trp620Ser | Primary infertility, irregular menses, ovarian cyst or history of ovarian cyst, normal genitalia, absence of clinical hyperandrogenism, no skeletal malformation (the same findings in both cases) | ACTH, cortisol and basal P levels were in normal range, the response of cortisol to ACTH stimulation was insufficient. While E2 levels were modestly increased and P levels were increased in the range of luteal phase during ovarian stimulation and before ovulation triggering. | IVF and frozen embryo transfer after suppressing P by hydrocortisone (case 2) and dexamethasone (case 3) while no mention of the endometrial preparation protocol. Twins live birth (case 1) and singleton live birth (case 2) | [23] |
1 | Chinese | 29 | Compound heterozygous, c.1370G > A/ c.1196_1204del | p.Arg457His, rs28931608/ p.Pro399_Glu401del | Primary infertility, primary amenorrhea, frequent ovarian cyst, hypoplastic uterus, absence of clinical hyperandrogenism, mild skeletal malformation | ACTH, cortisol and basal P were in normal range but basal 17-OHP were elevated and no obvious sign of adrenal insufficiency. . While E2 levels were low and P levels were elevated during ovarian stimulation and before ovulation triggering. | IVF and frozen embryo transfer with artificial endometrial preparation after suppressing P by dexamethasone. Twins live birth. | This paper |