Background
Patients and methods
Patients
Code | GA (weeks) | BW (g) | BW (SD) | EMS | Pregnancy | Dysmorphic features | Consanguinity | Family history |
---|---|---|---|---|---|---|---|---|
1 | 32 | 900 | −3.15 | 2/12 | CS | IUGR | No | Unremarkable |
2 | 41 | 3.260 | −1.12 | 3/12 | Normal | Large ears | No | Unremarkable |
Broad nose | ||||||||
Mild frontal bossing | ||||||||
3 | 40 | 4.150 | 1.12 | 2,5/12 | Normal | / | No | Maternal aunt: difficulties to get pregnant, one child with congenital abnormalities |
4 | 41 | 3.060 | −1.6 | 3/12 | Normal | / | No | Unremarkable |
Minoxidil treatment | ||||||||
5 | 34 | 1.320 | −2.93 | 7,5/12 | CS | IUGR | No | Unremarkable |
6 | 40 | 3.380 | −0.59 | 9/12 | Normal | / | No | Grandfather with hypospadias, maternal aunt with POF |
7 | 30 | 510 | −3.8 | 6/12 | Induced delivery | IUGR | No | Paternal grandmother: cleft lip |
Twins | ||||||||
8 | 39 | 3.690 | 0.45 | 10/12 | IVF | / | No | Unremarkable |
9 | 38 | 3.310 | 0.01 | 8/12 | Normal | / | No | Unremarkable |
10 | 39 | 2.850 | −1.53 | 9/12 | Placental infarction | Microcephaly | No | Unremarkable |
Mild facial dysmorphism | ||||||||
11 | 40 | 3.000 | −1.51 | 3/12 | Normal | Macrocephaly | No | Unremarkable |
Facial dysmorphism | ||||||||
Short neck | ||||||||
Developmental delay (speech) | ||||||||
12 | 40 | 3.850 | 0.47 | 6/12 | Normal | / | Yes | Mother: fertility problems, irregular menses |
13 | 35 | 2.530 | −0.26 | 6/12 | Preeclampsia and hypertension | / | No | Unremarkable |
Obesity | ||||||||
Twins | ||||||||
Sectio | ||||||||
14 | 32 | 945 | −2.98 | 3/12 | Bleeding | / | No | Unremarkable |
CS | ||||||||
15 | 40 | NA | NA | 3/12 | Normal | / | No | Unremarkable |
16 | 28 | 860 | −1.26 | 7/12 | Eclampsy | Atrial septum defect | No | Unremarkable |
Prematurity | ||||||||
17 | 34 | 1.450 | −2.52 | 6/12 | CS | Ventricular septum defect | Yes | Cousin (deceased)with Jeune syndrome |
18 | 34 | 1.400 | −2.68 | 2/12 | CS | / | No | Unremarkable |
Antidepressant Paroxetine | ||||||||
19 | 41 | 2.805 | −2.24 | 3/12 | Normal | / | No | Unremarkable |
20 | 39 | 2.880 | −1.45 | 6/12 | Normal | / | Possible | Unremarkable |
21 | 36 | 1.585 | −3.39 | 7/12 | Preeclampsia | / | No | Unremarkable |
22 | 39 | 2.640 | −2.07 | 6/12 | Normal | / | No | Unremarkable |
23 | 40 | 3.250 | −0.9 | 8/12 | Normal | / | No | Unremarkable |
24 | 37 | 3.290 | −0.43 | 6/12 | Normal | / | Yes | Unremarkable |
25 | 38 | 2.800 | −1.20 | 6/12 | Preeclampsia | / | No | Mother: brother deceased from SIDS |
Maternal grandfather: depression | ||||||||
Maternal grandmother: recurrent miscarriage | ||||||||
Father: late puberty | ||||||||
Paternal uncle: retractile testes, normal fertility | ||||||||
26 | 39 | 3.770 | −0.63 | 12/12 | Preterm contractions | Hypoplastic bulbus olfactorius | / | Unremarkable |
27 | 26 | 700 | −1.26 | 10/12 | IVF | Persisting | / | Unremarkable |
Twins | ||||||||
Placental rupture | Periventricular leukcomalacy | |||||||
28 | 36 | 2.570 | −0.72 | 8/12 | Previous abortions | X-linked ichthyosis | / | First child was stillborn |
Preterm contractions | Hypotonia | Three miscarriages between month 1 and 2 | ||||||
Developmental delay ductus arteriosus | ||||||||
Bleeding | Abnormal liver function tests | |||||||
29 | 39 | 3.230 | −0,6 | 9/12 | Pregnancy after gonadotrophin treatment father | / | / | Father with Kallmann syndrome, pregnancy after gonadotrophins |
30 | 38 | 3.782 | 1.04 | 8/12 | Normal | Mowat-Wilson syndrome | / | Unremarkable |
32 | 39 | 2780 | −1.70 | 7/12 | Normal | No | No | Unremarkable |
Methods
Biochemical analyses
Genetic analyses
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 |