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Table 3 The currently reported pregnant cases in 46, XX females with PORD

From: Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature

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

  1. Abbreviation: E2 Estradiol, P Progesterone, 17-OHP 17α-hydroxyprogesterone, ACTH Adrenocorticotropic hormone, IVF In vitro fertilization, GnRHa Gonadotrophin releasing hormone agonist