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Table 2 Hormonal levels and family history of 25 patients with familial DSD

From: Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

Case Age at assays Testosterone (ng/ml) LH basal (IU/L) FSH basal (IU/L) INHIBIN B (pg/mL) AMH (pmol/L) Parent (family history)
   Before hCG After hCG  
1 1 d 2.7   0.7b <0.4b 178b 2348b mother (premature menopause (27 years) in sister of his mother)
2 7 d 0.3   1.5 <0.4 186 794 mother (DSD in brother, sister and nephew)
3 3 d 0.2   <0.4 <0.4 >400 >600 mother (brother of case 2)
4 3 d 4 5.5 0.8b 1.3b ND 614b father (secondary infertility)
5a 3 d 0.1   0.1 0.4 <3 <1 father (infertility in 2 female cousins)
6 4 d <0.07 <0.07 3.3 11 <10b 1b father (premature menopause (38 years) in cousin)
7a 14 d 0.1 0.25 0.2 3.9 ND   mother (DSD in one nephew, congenital heart disease; brother with micropenis and cryptorchidism)
8a 23 d 0.2 0.9 0.3 1.8   78b mother (premature menopause (28 years)
9 0.1 y 2   3.6 2.2 272 955 mother (hypospadias in each son of her 2 sisters)
10 0.1 y 2.1   3.2 2.4 176 630 father (cryptorchidism)
11 0.1 y 0.1   4.6 0.92 179 865 mother (brother of cases 2 and 3)
12 0.3 y 1.2   0.9 1 590 1674 father (hypospadias)
13 0.4 y 1   2.4 0.7 347 1129 mother (brother DSD, nephew hypospadias) father (unilateral cryptorchidism and 2 meatus urinarus in brothers)
14 5 y    0.7 1 14 1136 brother (hypospadias)
15 0.8 y 0.02   <0.4 0.6 175 1042 father (cryptorchidism)
16 0.8 y <0.05   <0.4 <0.4 253 1245 mother (half brother of case 24)
17a 1.5 y <0.05 <0.05 1.7 45 ND   mother (DSD in uncle)
18 1.8 y    <0.4 <0.4 94 485 father (hypospadias in brother)
19 3 y <0.07   <0.2 0.47 77 1086 father (hypospadias in brother)
20 3.5 y <0.07 3.3   ND    father (infertility in one sister and in paternal grandmother)
21 3.9 y     0.6 97 593 father (unilateral cryptorchidism as in cousin)
22 7.6 y     ND 44 719 brother (hypospadias)
23 10 y 1.1 1.6 <0.2 1.5 ND 37 brother (left cryptorchidism)
24 13.6 y 1.2   0.9 0.5 217 64 mother (half brother of case 16)
25 15 y 10.3   4.6 4.3 157 165 mother (uncle of cases 2, 3, 11)
  1. aGenetic mutations (reference): case 5 SRY p.W98 C; case 7 GATA4 p.Gly221Arg (9); case 8 NR5A1 c.390delG (8); case 17 FOF2/ZFPM 2p.S402R (10)
  2. Consanguinity reported in case 23
  3. Cases 2,3,11 are brothers and case 25 is their maternal uncle. Cases 16 and 24 has the same mother (see pedigree)
  4. bAge at assays similar except case 1 at 1.2 y, case 4 at 9 y, case 6 at 10 y, case 8 at 8.5 y