Table 2.
Hormonal and genetic data of patients
| Code | FSH (U/l)# (ref) | AMH ( μ g/l) (ref)$ | T (ng/dl)*/** | AR | NR5A1 | WT1 | SRY | Array-CGH | MLPA | Other |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 3.2(1–12) | 59.8(46.8-173) | 136* | Nl | Nl | Nl | FISH Nl | Nl | Nl | HSD17B3 |
| 2 | 14.0(1–12) | 62.7(46.8-173) | 63.8*/579** | / | Nl | Nl | Nl | Nl | Nl | HSD17B3, ATRX N |
| 3 | 6.6(1–12) | 10.8(105–270) | 4.7* | / | c.253_254del | / | Nl | / | / | |
| 4 | 1.6(1–12) | 118(46.8-173) | 195* | Nl | Nl | Nl | / | Nl | Nl | |
| 5 | NA | 152(67.4-197) | 526** | Nl | c.437G > C (tolerated) | / | FISH Nl | / | / | |
| 6 | 3.3(1–12) | 64.5(62–130) | 184* | Nl | c.630_637del | / | FISH Nl | / | Nl | |
| 7 | 1.5(1–12) | 57.6(105–270) | 222* | Nl | Nl | Nl | / | 7q36.3q36.3 (158189154–158343770)×1, maternal | Nl | |
| 8 | NA | 10.6(38–180) | 275** | Nl | Nl | Nl | Nl | Nl | Nl | |
| 9 | NA | 231(46.8-173) | NA | Nl | Nl | Nl | / | Xp22.33p22.33 (839417–1179089)×3, maternal | Nl | |
| 10 | NA | 244(46.8-173) | NA | Nl | Nl | Nl | / | Nl | Nl | ATRX Nl |
| 11 | 5.5(1–12) | NA | 158*/511** | / | / | / | / | 3p25(RP11-385A18 → RP11-334 L22)×3, 9p24.3 (RP11-48 M17 → RP11-320E16)×1 | / | |
| 12 | 2.5(1–12) | 147(46 · 8-173) | 109* | / | Nl | Nl | / | / | Nl | |
| 13 | NA | 72.7(46.8-173) | 280* | / | Nl | Nl | FISH Nl | Nl | Nl | |
| 14 | 1.2(1–12) | 8.6(105–270) | 248* | Nl | / | / | / | / | / | |
| 15 | NA | 132.9(42–185) | NA | Nl | c.1109 G > A (p Cys370Tyr) | / | FISH Nl | 16p12.3p12.3 (18894303–19162153)×3,maternal (normal variant) | / | |
| 16 | 1.3(1–12) | 298(67.4-197) | 337* | Nl | Nl | Nl | FISH Nl | Xq13.3q13.3 (74285912–75325119)×2, maternal | Nl | |
| 17 | NA | 72(38–180) | NA | / | Nl | Nl | FISH Nl | / | Nl | HSD17B3 |
| 18 | 2.6(1–12) | 82.2(23.8-124) | NA | Nl | Nl | Nl | / | 2p16.3p16.3 (5073244–50894316)x1; 16p13.11p13.11(15830681–16270149)x3 | Nl | |
| 19 | 1.8 | 49.1(23.8-124) | 35.3*/390** | Nl | Nl | Nl | FISH Nl | Xq13.3q13.3(74380482–74567915)×2, maternal | Nl | |
| 20 | 2.8(1–12) | 194(105–270) | 104* | Nl | Nl | Nl | FISH Nl | Nl | Nl | |
| 21 | 1.9(1–12) | 28.8(55.3-187) | NA | Nl | Nl | Nl | Nl | / | Nl | |
| 22 | 2.1(1–12) | 94.1(105–270) | 151* | Nl | Nl | Nl | Nl | 5p14.3p14.3(21438696–21490654)×1, maternal, 14q21.2q21.3(42908541–43293564)×3, maternal | Nl | |
| 23 | NA | 11.27(55.3-187) | 404** | Nl | Nl | Nl | Nl | Nl | Nl | |
| 24 | NA | 43(105–270) | 152*/474** | / | Nl | Nl | Nl | Nl | Nl | SRD5A2 N |
| 25 | 1.0(1–12) | 156(105–270) | 207.3* | Nl | Nl | Nl | / | Nl | Nl | |
| 26 | 0.17(1–12) | 65.9(105–270) | 3.3*/90.8 ** | / | / | / | / | Nl | / | |
| 27 | NA | 245(55.3-187) | 951** | Nl | Nl | Nl | / | / | Nl | |
| 28 | NA | 14.03(55.3-187) | NA | / | / | / | / | Xp22.32p22.31(5405569–9222059)×0, maternal | / | |
| 29 | 0.57(1–12) | NA | 3.2* | / | / | / | / | / | / | FGFR1 c.1042G > A |
| 30 | 1.2(1–12) | 159(105–270) | 502* | / | / | / | / | Nl | / | ZEB2 c.2856delG |
| 32 | 11(1–12) | 25(105–270) | 191.9* | Nl | Nl | Nl | Nl | Nl | Nl |
Symbols and abbreviations: NA not available, FSH follicle stimulating hormone, AMH anti-Müllerian hormone, ref age-specific reference value, T testosterone, Nl, normal.
# Determined between day 14–90; $: age-specific AMH reference values may differ according to the commercial kits that have been used during the course of the study; *Basal testosterone value between day 14–90/**: Testosterone value after HCG stimulation (1500 U, blood sampling after 72 h).
Genomic coordinates based on build hg18 (2006), except for patient 32, where build hg19 (2009) is used.