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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

From: Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation

Clinical and Laboratory FeatureIndex CaseAffected UncleAffected brother
Age at PAI diagnosis (years)406436
Age at diagnosis of hypogonadism (years)4158
Cortisol (3–20 mcg/dL)
ACTH (<46 pg/mL)11511012>1250
Testosterone (220–715 ng/dL)72135784
SHBG (11.2–78.1 nmol/L)NANA60
LH (0.6–12 mUI/mL)3.4133.3
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< 4.863
SpermogramNAAzoospermiaSevere oligospermia, asthenospermia, teratospermia
  1. ACTH Adrenocorticotropic hormone, SHBG Sex hormone biding globulin, LH Luteinizing hormone, FSH Follicle-stimulating hormone, PAI Primary Adrenal Insufficiency, NA Not available