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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