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Table 1 Medical history and phenotypic details 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 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
  1. GA: gestational age, BW: birth weight, EMS: external masculinization score, IUGR: intra uterine growth retardation, POF: premature ovarian failure, SIDS: sudden infant death syndrome; CS: Caesarian section, IVF: in vitro fertilization.