Table 1 Summary of the clinical and lab findings observed in p.Tyr378Cys Brazilian kindred presenting with very late-onset primary adrenocortical insufficiency and distinct reproductive phenotypes
Clinical and Laboratory Feature | Index Case | Affected Uncle | Affected brother |
|---|---|---|---|
Age at PAI diagnosis (years) | 40 | 64 | 36 |
Age at diagnosis of hypogonadism (years) | 41 | 58 | – |
Cortisol (3–20 mcg/dL) | 2.2 | 1.5 | 0.6 |
ACTH (<46 pg/mL) | 1151 | 1012 | >1250 |
Testosterone (220–715 ng/dL) | 72 | 135 | 784 |
SHBG (11.2–78.1 nmol/L) | NA | NA | 60 |
LH (0.6–12 mUI/mL) | 3.4 | 13 | 3.3 |
FSH (0.9–12 mUI/mL) | 25 (1.4–18) | 24 (0.9–12) | 13 (0.9–12) |
Inhibin B (11–369 pg/mL) | < 4.8 | < 4.8 | 63 |
Spermogram | NA | Azoospermia | Severe oligospermia, asthenospermia, teratospermia |