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Table 2 Follow-up evaluation in adulthood

From: The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family

 

Patient 1

Patient 2

Age at latest evaluation

35 years

38 years

General appearance in both sisters

Hirsutism on face with mustache, male distribution of body hair, athletic constitution of body, underdeveloped breast

Current medications in both

Dexamethasone 0.5 mg/day + hydrocortisone 10 mg/day

Surgical procedures

No surgical procedures

Clitoroplasty and vaginoplasty

In vitro fertilization

2017—ongoing

2012, 2014, 2016—unsuccessfully

Steroid hormone results at latest evaluation—with treatment

 17-OHP (ref. 0.2–2.9 ng/mL)

29 ng/mL

27 ng/mL

 Testosterone (ref. < 2.1 nmol/L)

0.087 nmol/L

0.93 nmol/L

 DHEA-S (ref. 1.65–9.15 µmol/L)

0.468 µmol/L

0.494 µmol/L

 Androstenedione (ref. 3.5 ng/mL)

1.1 ng/mL

2.4 ng/mL