Author/Editor		Frisch, H; Battelino, T; Schober, Edith; Baumgartner-Parzer, Sabina; Nowotny, P; Vierhapper, H
Title		Salt wasting in simple virilizing congenital adrenal hyperplasia
Type		članek
Source		J Pediatr Endocrinol Metab
Vol. and No.		Letnik 14, št. 9
Publication year		2001
Volume		str. 1649-55
Language		eng
Abstract		Objective: To evaluate possible derangement in sodium balance in patients with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) which might have implications for therapeutic procedures. Design: Patients were sodium loaded throughout the protocol and studied after interruption of cortisone therapy for 4 days, after treatment with dexamethasone 1 mg/m2/d for 3 days and after additional therapy with 9alpha-fluorocortisone (9alphaF) 0.1 mg/m2 for 3 days and 9alphaF 0.2 mg/m2 for 3 days. After each phase, basal and stimulated (2 h in an upright position), aldosterone and plasma renin concentrations (PRC) were evaluated. Methods: Nine children aged 5.0 to 12.8 years with the clinical classification of SV CAH were studied. Diagnosis was established at the age of 2.9 +/- 1.9 years (mean +/- SD) and the patients were treated with oral hydrocortisone at a mean dose of 22.5 mg/m2/d, given in two or three daily doses. Seven patients were heterozygous for the Ile172Asn point mutation in exon 4, and two for the Pro30Leu mutation in exon 1 of the CYP21 gene. All of them had a more severe mutation or deletion in the second allele. PRC was determined by RIA and expressed as Goldblatt units (GU). Aldosterone was determined by RIA. Genotyping for disease-causing deletions and mutations was performed by Southern blot analysis, PCR and direct sequencing of CYP21. RESULTS: PRC was significantly higher in patients off hydrocortisone replacement therapy than in age matched control subjects (basal 3.3 +/- 0.5 vs 1.2 +/- 0.2 GU 10(-4)/ml Šmean +/- SEMĆ, p<0.001; stimulated 8.6 +/- 0.5 vs 2.4 +/- 0.4 GU 10(-4)/ml; p<0.05). Upon treatment with dexamethasone, patients with CAH demonstrated a decrease in basal (2.1 +/- 0.5 GU 10(-4)/ml) but not in stimulated PRC (8.8 +/- 2.6 GU 10(-4)/ml). (Abstract truncated at 2000 characters)
Descriptors		ADRENAL HYPERPLASIA, CONGENITAL VIRILISM SODIUM CHLORIDE, DIETARY HYDROCORTISONE ALDOSTERONE CHILD GENE DELETION POLYMERASE CHAIN REACTION BLOTTING, WESTERN DEXAMETHASONE HOMOZYGOTE DNA MUTATIONAL ANALYSIS RENIN