32 ABSENCE OF NON CLASSICAL 21OHIASA DEFICIENCY IN GIRLS WITH PRECOCIOUS PUBRACHE

Abstract

Recent reports have described nan classical 21CHlasa deficiency in girls with precocious pularche (PP). In order to assess the prevalence of this deficiency, 26 girls with PP were studied, chronological age (CA) (X±SD) 6.47±2.04 a. Height, bone age (BA) and sexual development (Tanner) were evaluated and in eight cases pelvic and adrenal ultrasound examination were performed. An ACTH stimulation test was done in all patients using 25UI given as an IV bolus measuring basal and post ACTH (30 and 60 min.) 17CH progesterone (17CHP) and cortisol levels. The results were compared with the nanogram standards for serum 17CHP (Naw and col. JCEM 57:320, 1983) and with a control group of normal girls (3 prepubertal and 5 pubertal). Basal SHBG, T and SDHEA levels were measured in 10, 24 and 12 patients respectively. All patients had MI, VPII-III. The height SDS was 0.53±1.18, the ratio BA/BC was 0.85±1.08. In eight patients where ultrasound study vas performed, the results were normal. The 17CHP baseline serum levels were (X±SD) 0.65±0.66 ng/ml and the cortisol levels 12±9 ug/100 ml and the highest respense to ACTH vas 2.42±1.31 and 29.2±7.1 respectively. None of the studied patients showed 17CHP levels to ACTH higher than those of normal population of the published nanogram, nor of our normal controls (prepubertal ng/ml B:0.35±0.31, maximal response 2.88±0.53;pubertal B: 1.6±0.73, maximal response 6.48±3.26. Tne basal serum levels of SHBG, T and SDHEA were: X+SD (nmol/L) 94.50±31.04, 0.98±0.73 and 2300±2320. Only the SDHEA serum levels were significantly higher than in those previously published controls (103±8, 1.06±0.08 and 348±117) p <0.01 (Belgorosky and col. JCEM 67:234, 1988). In conclusions:we studied group of 26 girls with precocious pubarche none of them presented any biochemical evidence for non classical CAH due to 21CHlasa deficiency. The increased SDHEA levels confirm a premature maturation of adrenal activity in girls with precocious pubarche.