Table 3 Characteristics of 7 patients with familial form of anorchia
Case | Testes at birth | Age at first evaluation | Testosterone (ng/mL) | LH (IU/L) | FSH (IU/L) | Inhibin B (pg/mL) | AMH (pmol/L) | Parent (family history) | |
|---|---|---|---|---|---|---|---|---|---|
Right | Left | ||||||||
26 | p | np | 1d | ND | <0,4b | <0,4b | und | 5 | mother and fetus sister (see Results) |
27 | p | p | 1.3y | und | 5.5 | 68 | und | 2.5 | mother (see Results) |
28 | torsion at birth | torsion at birth | 3.2y | 0.15 | 6b | 34b | ND | ND | father (secondary infertility with oligoasthenospermia) |
29 | ND | ND | 2y | unda | <0,2b | 18b | ND | und | father (increased basal plasma FSH concentration (12 IU/L) at 38 y) |
30 | ND | ND | 6.2y | unda | 0.5 | 0.05 | und | und | mother (cryptorchidism in cousin) |
31 | ND | 8.2y | ND | 2.8 | und | und | father (cryptorchidism in son of sister) | ||
32 | np | np | 13.6y | 0.09 | 25 | 122 | ND | ND | mother (premature menopause at 28 y) |