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Table 2 Hormonal and genetic data of patients

From: Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

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  
  1. Symbols and abbreviations: NA not available, FSH follicle stimulating hormone, AMH anti-Müllerian hormone, ref age-specific reference value, T testosterone, Nl, normal.
  2. # 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).
  3. Genomic coordinates based on build hg18 (2006), except for patient 32, where build hg19 (2009) is used.