Clinical, biological and ultrasonographical studies of the proband and relatives
| Case | Menstrual cycles | Age at evaluation (years) | BMI (height (cm)/weight (kg)) | HC cm (SD) | R/L Ovarian surface (mm) Volume (mm3) | R/L Follicle number | FSH IU/L | LH IU/L | E2 nmol/L | AMH ng/mL | InhB ng/L | T nmol/L | PRL ng/mL | TSH mU/L |
| Proposita | Primo-secondary amenorrhoea (13 years) | 30 | 23 (156/55) | 55.5 (0) | 12/17 0.9/0.5 | 2/0 | 85 | 16.7 | 0.04 | 0.5 | 17.5 | 1.45 | ||
| 32 | 19/17 | 0/0 | 112.9 | 36.5 | 0.08 | 0.6 | 29.5 | 1.34 | ||||||
| 39 | 24 (156/58) | 110.6 | 26.5 | 0.09 | 0.03 | <8 | 1.43 | 4.6 | 1.66 | |||||
| Mother | Secondary amenorrhoea (33 years) | 63 | 38 (155/90) | 56 (0) | Normal ranges | Follicular phase | 2.9–120.0 | 1.5–8.0 | 0.06–0.56 | 2.2–6.8 | 10–320 | 0.4–2.0 | 0.7–25.0 | 0.3–4.2 |
| Ovulatory phase | 6.3–24.0 | 9.6–80 | 0.16–0.78 | |||||||||||
| Father | 70 | 17 (170/50) | 55 (0) | Luteal phase | 1.5–7.0 | 0.2–6.5 | 0.34–2.1 | |||||||
| Brother | 45 | 28 (170/80) | 55 (0) | Menopause | 17–95 | 8–33 | <0.2 |
NA: not applied
AMH, anti-Müllerian hormone; BMI, body mass index; E2, estradiol; FSH, follicle-stimulating hormone; HC, head circumference; InhB, inhibine B; L, left; LH, luteinising hormone; PRL, prolactin; R, right; T, testosterone; TSH, thyroid-stimulating hormone.