109 CONGENITAL ADRENAL HYPERPLASIA (CAH) - 2 UNUSUAL CASES WITH ADRENAL INSUFFICIENCY AND COMPLEX URINARY METABOLITE PATTERN

Abstract

Among a large group of CAH, 21 hydroxylase deficiency (21 OH-def) studied - 2 atypical cases were observed. (Plasma values are given in nmol/1 and urinary excretion in mg/24h). PLH, a girl born virilized in 1969, had elevated excretion of 17 KS (3), she was a salt loser and is HLA A3B47 homozygous. During subsequent years of control 17 OH-progesterone (17 OHP), androstenedione (Adione) and pregnanetriol (Ptriol) never was elevated and aldosterone secretion allways subnormal. The pt. was reevaluated at the age of 13 years and during cortisone therapy. ACTH stimulation (60 min) showed no increase in 17 OHP (1.2) or cortisol (F) (405-279). ACTH stimulation (3 days) showed a non-significant rise in F-metabolites (10.7-12.8), 17 KS (1.3-1.5) and a moderate increase in Ptriol (0-3.6). Presumably the patient has 21 OH-def in adrenals with insufficient steroid production. - MLA, a girl born virilized in 1981 had very high values of 17 OHP (238) and Adione (>35). There was a subnormal response in F (60 min) after ACTH (300). The urinary steroid metabolite pattern was very peculiar for a case with 21 OH-def. During ACTH stimulation (3 days) there was only a slight rise in different metabolites: F-metabolites (0.17-1.1), 17 KS (0.03-0.08), Ptriol (0.07 -0.26), 16 OH-pregnenolone (0.1-0.6) and 16 OH-DHA (0-0.1). Furthermore many unknown steroids were found.