Table 1 Clinical characteristics of individuals with GDF9 bi-allelic variants
| Â | P1 | P2 |
|---|---|---|
DNA mutation | c.961C>T / c.1283G>C | c.627_628del / c.1283G>C |
Protein mutation | p.Q321X / p.S428T | p.His209GlnfsTer6 / p.S428T |
Age (years) | 36 | 30 |
Height/weight (cm/kg) | 165/62 | 156/56 |
Karyotype | 46,XX | 46,XX |
Diagnosis | Primary infertility Endometrial atypical hyperplasia | Primary infertility |
Duration of infertility (year) | 2.5 | 1.5 |
Menstrual cycle (Days) | 25-35 | 24-25 |
AMH (ng/ml) | 0.78 | 1.93 |
FSH/LH (mIU/ml) | 16.24/8.81 | 15.58/5.52 |
AFC (bilateral) | 5 | 9 |