Back to Search Start Over

Two Brothers with Non-Classical 21-Hydroxylase Deficiency: To Treat or Not to Treat?

Authors :
Oberender, F.
Rumsby, G.
Perry, L. A.
Savage, M. O.
Source :
Hormone Research; 2004, Vol. 62 Issue 5, p241-244, 4p
Publication Year :
2004

Abstract

Variations in phenotype in 21-hydroxylase deficiency (21OHD) have cautioned against initiating treatment in the absence of abnormal clinical features. We report 2 Caucasian brothers with compound heterozygous mutations of the CYP21 gene and mild clinical and biochemical features of late-presenting 21OHD. The index case presented aged 8.5 years with mild genital virilization and bone age advanced by 5 years. Elevated basal and synacthen-stimulated 17-hydroxyprogesterone (17OHP; 22.4 and 246 nmol/l) and androstenedione (10.9 and 19.9 nmol/l) levels confirmed 21OHD. His younger brother was investigated at age 7.3 years, and although examination showed normal pre-pubertal genitalia, basal and synacthen-stimulated 17OHP (32.4 and 281 nmol/l) and androstenedione (6.2 and 9.0 nmol/l) were abnormal, and bone age was advanced by 1.5 years. Because of actual or incipient virilization, both patients were treated with glucocorticoid replacement 8–12 mg/m<superscript>2</superscript>/day. This decision is discussed in the context of published guidelines for the management of 21OHD. Copyright © 2004 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03010163
Volume :
62
Issue :
5
Database :
Complementary Index
Journal :
Hormone Research
Publication Type :
Academic Journal
Accession number :
15126513
Full Text :
https://doi.org/10.1159/000081622