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Table 1 Clinical manifestations of the study patients

From: Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study

 

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

Referral time

February 2014

March 2017

May 2017

January 2019

May 2019

Age, y

29

28

31

29

28

Menarche

Spontaneous, 14 years

Spontaneous, 14 years

Spontaneous, 14 years

Primary amenorrhea

Spontaneous, 14 years

Menses pattern

Regular cycle with menostaxis

Irregular cycle with menostaxis

Regular cycle

Irregular cycle

Irregular cycle with menostaxis

Gynecological symptoms

Recurrent ovarian cysts

Recurrent ovarian cysts

None

None

Repeated endometrial cavity fluid and ovarian cysts

Family history

A fertile brother, a twin sister with 17-OHD

No special

A fertile brother

A fertile sister, an unmarried brother

A sister with irregular menses

Infertility type

Primary

Primary

Primary

Primary

Primary

Duration of infertility, y

7

4

7

3

6

Tubal patency assessment

Bilateral Patency

Bilateral Patency

Bilateral obstruction

Bilateral Patency

Bilateral Patency

Hysteroscopy

Normal uterine cavity

Not examined

Normal uterine cavity

Not examined

Intrauterine adhesion

Partner’s semen analysis

Normal

Normal

Normal

Normal

Normal

Treatment experience before referral

Three cycles of IUI

Ovulation detection

Two IVF cycles

One IVF cycle

Misdiagnosis of PCOS, repeated hysteroscopy

Height, cm

158

163

162

168

168

Weight, kg

63

56

64

54

64

BMI (kg/m2)

25.24

21.08

24.39

19.13

22.68

Blood pressure (mmHg)

121/76

110/77

120/77

100/73

106/67

Axillary hair

Sparse

No

No

No

No

Tanner stage

B5PH2

B5PH1

B5PH2

B5PH1

B5PH1

Genitalia

Normal

Normal

Normal

Normal

Normal

Karyotype

46, XX

46, XX

46, XX

46, XX

46, XX

  1. 17-OHD, 17α-hydroxylase/17,20-lyase deficiency; B, breast; BMI, body mass index; IUI, intrauterine insemination; IVF, in vitro fertilization, PCOS, polycystic ovarian syndrome; PH, pubic hair