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Two Brothers with Non-Classical 21-Hydroxylase Deficiency: To Treat or Not to Treat?
- 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]
- Subjects :
- ENZYMES
GENETIC mutation
ANDROSTENEDIONE
GENES
VIRILISM
GYNANDROMORPHISM
Subjects
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