Clinical and biological features of the affected and unaffected individuals of the kindred.

a: Urinary free cortisol, UFC, normal ranges: age>59 y, 7–33 µg/d, 15 to 59 y 13–53 µg/d for males and 11–38 µg/d for females,10–14 y 7–34 µg/d, 5–9 y 4–25 µg/d.
b: Plasma cortisol (F), 8.00 am basal values, normal ranges in adult and children (N<540 nmol/l); overnight 1-mg DEX suppression test, F<50 nmol/L.
c: Salivary cortisol (Sal F), normal ranges 2–19 nmol/L.
d: ACTH, normal values basal 2.2–13.2 pmol/L.
e: Osteocalcin, normal values 5.3–24 ng/mL.
f: THE/THF ratio (Normal values 1.5–2.5).
g: Aldosterone (A), normal resting values 19–117 pg/mL, normal supine values 41–323 pg/ml, 100–800 pg/mL (children).
h: Renin (R), normal resting values, 3–16 pg/ml, normal supine values 3–33 pg/ml, 7.5–25 pg/ml (children)i: deoxycorticosterone (DOC), normal values, 40–200 pg/mL (adult).
*on therapy, ND not determined; NA not available, undetect: below detectable level.