Characterization of zona glomerulosa function in patients with classic and non-classic forms of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
The function of the adrenal zona glomerulosa was studied in 18 patients with 11-hydroxylase deficiency confirmed by elevated plasma levels of 11-deoxycortisol. Patients were divided into two groups. Group I (4 males, 7 females; aged 1.2-2.8 yrs) had symptoms at birth or shortly after (classic form), and Group II (4 males, 3 females; aged 7.3-20.1 yrs) had their first clinical manifestation during childhood (non-classic form). To study zona glomerulosa function, patients were given dexamethasone p.o. 2 mg/m2/day x6 days, thus suppressing the zona fasciculata. Six hours after the last dose of dexamethasone, the zona glomerulosa was stimulated by i.v. administration of furosemide 1.0 mg/kg as a single dose. Blood was drawn 2 h later. In the untreated state, all patients had striking elevation of ACTH (Group I: 1,070 +/- 380 pg/ml; Group II: 764 +/- 180 pg/ml), 11-deoxycortisol (Group I: 63,000 +/- 22,000 ng/dl; Group II: 17,200 +/- 5,200 ng/dl) and deoxycorticosterone (Group I: 1,100 +/- 67 ng/dl; Group II: 499 +/- 27 ng%) while plasma renin activity (< 0.5 ng/ml/h in both groups) and aldosterone (Group I: 3.0 +/- 1.8 ng/dl; Group II: 2.3 +/- 1.8 ng/dl) were markedly suppressed. After the administration of furosemide 4 patients in Group I were unable to increase aldosterone (2.8 +/- 0.9 ng/dl) secretion in spite of marked elevation of plasma renin activity (28 +/- 7 ng/ml/h), suggesting an impairment of 11-hydroxylase in the zona glomerulosa.(ABSTRACT TRUNCATED AT 250 WORDS)
Castro-Magana
M
M
Division of Pediatric Endocrinology and Genetics, Winthrop-University Hospital, Mineola, NY 11501, USA.
Angulo
M
M
Canas
J A
JA
Mazur
B
B
Sarrantonio
M
M
Vitollo
P
P
Palekar
A
A
Fuentes
B
B
Lee
A
A
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000209:etiology* / Q000503:physiopathology*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D000450:Aldosterone / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003900:Desoxycorticosterone / Q000097:blood; D003907:Dexamethasone / Q000494:pharmacology; D005260:Female; D005665:Furosemide / Q000494:pharmacology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012083:Renin / Q000097:blood; D013252:Steroid 11-beta-Hydroxylase / Q000502:physiology; D013997:Time Factors; D015384:Zona Glomerulosa / Q000502:physiology*
D003900:Desoxycorticosterone; D000450:Aldosterone; D005665:Furosemide; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D013252:Steroid 11-beta-Hydroxylase; D012083:Renin