Table 1 Identified variants and clinical characteristics of the patients according to the ESHRE guideline
Variant | Current Age (yrs.) | Age at Menarche (yrs.) | Patterns of menses at Diagnosis | Age at Diagnosis (yrs.) | Sonographic finding at Diagnosis | FSH (mIU/mL) at Diagnosis | AMH (ng/ml) at Diagnosis | Maternal Parity |
|---|---|---|---|---|---|---|---|---|
p.N103S | 29 | 13 | Secondary Amenorrhea | 17 | Atrophic Ovaries | 135 | 0.01 | - |
p.N103K | 20 | 16 | Secondary Amenorrhea | 17 | Atrophic Ovaries | 40 | 0.82 | - |
p.A180T | 42 | 13 | Irregular menses (Oligomenorrhea more than 18 months) | 39 | Normal Ovaries | 30 | 0.03 | One Child |
p.M184T | 33 | 16 | Secondary Amenorrhea | 31 | Atrophic Ovaries | 100 | 0.01 | One Child |