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 |