External genitalia | Tanner stages | Uterus | Gonads pathology | T (ng/ml) | FSH (UI/l) | LH (UI/l) | Mutation | Inheritance | Protein consequences | |
---|---|---|---|---|---|---|---|---|---|---|
Patient 1 | Normal female | B3P3 | Present | Streak gonads | 0.66 | 33 | 9.4 | SRY: c.292T>C | Hemizygous | p.Trp98Arg |
Patient 2 | Normal female | ND | Present | ND | < 0.1 | 13 | 2 | SRY: c.319insA | Hemizygous | p.Trp107MetfsX21 |
Patient 3 | Normal female | ND | ND | ND | < 0.1 | ND | ND | SF1: c.1A>G | Heterozygous | p.Met1Val (probably p.0) |
Patient 4 | Clitoromegaly | ND | ND | Gonads in labia | < 0.1 | ND | ND | SF1: c.116G>C | Heterozygous | p.Arg39Pro |
Patient 5 | Clitoromegaly | ND | ND | Testicular tissue/inguinal region | 0.7 | ND | ND | SF1: c.151delG | Heterozygous | p.Glu51ArgfsX23 |
Patient 6 | Clitoromegaly + Virilization | ND | ND | ND | 2,2 (post HCG) | ND | ND | SF1: c.369insC | Heterozygous | p.Pro124ProfsX24 |
Patient 7 | Normal female | B1A2P5 | Present | ND | 0.3 | 40 | 18 | SF1: c.1138G>T | Heterozygous | p.Asp380Tyr |
Patient 8 | Normal female | B1A3P3 | ND | Presence of Sertoli cells | 0.33 | 8.7 | 11.2 | LHCGR: c.1395G>A | Homozygous | p.Trp465X |
Patient 9 | Normal female | ND | Absent | Streak gonads | 0.35 | 102 | 28 | None | - | - |
Patient 10 | Normal female | B1P1 | ND | ND | 0.38 | 135 | 42 | None | - | - |
Patient 11 | Clitoromegaly + Hirsutism | ND | Present | Gonadoblastoma | 0.3 | ND | ND | None | - | - |
Patient 12 | Normal female | ND | Present | Streak gonads | < 0.1 | 78 | 46 | None | - | - |
Patient 13 | Normal female | ND | ND | Gonadal dysgenesis | < 0.1 | 59 | 45.8 | None | - | - |
Patient 14 | clitoris and labia agenesis | B2P4 | Present | Left dysgerminoma, Right fibrous structure (few tubules) | 0.14 | 71.7 | 18.6 | None | - | - |
Patient 15 | Clitoromegaly | B1P4 | Absent | ND | 0.3 | 56.3 | 29.5 | None | - | - |