Abstract | OBJECTIVE:
Congenital adrenal hyperplasia (CAH) shows a range of severity which is explained in part by the different mutations of the CYP21 gene. To better understand the incomplete concordance between genotype and phenotype in CAH the role of the sensitizing N363S polymorphism of the glucocorticoid receptor (GR) was examined in CAH patients. DESIGN: CAH patients were screened for N363S. Laboratory findings and clinical characteristics of carriers and non-carriers were analyzed retrospectively. METHODS: RESULTS: The carrier frequency of N363S in CAH patients was equivalent to that of the general Hungarian population (6% vs 7.8%). Interestingly, none of the non-classical CAH (NC-CAH) patients were carriers of the polymorphism. Carrier girls had milder genital virilization than mutation-matched non-carrier controls. There was no significant difference between the carriers and non-carriers in either the substitution doses, the hormonal, or the auxiological parameters. CONCLUSIONS: The association of sensitizing the GR variant with impaired cortisol production in CAH might be compensatory in mild NC-CAH and may prevent severe intrauterine virilization in classical form. Although the exact role of N363S in extrauterine life should be further investigated, the consideration of certain genetic polymorphisms of CAH patients may lead to better, individualized therapeutic regimes.
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Authors | A Luczay, D Török, A Ferenczi, J Majnik, J Sólyom, Gy Fekete |
Journal | European journal of endocrinology
(Eur J Endocrinol)
Vol. 154
Issue 6
Pg. 859-64
(Jun 2006)
ISSN: 0804-4643 [Print] England |
PMID | 16728546
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Receptors, Glucocorticoid
- Steroid 21-Hydroxylase
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Topics |
- Adrenal Hyperplasia, Congenital
(diagnosis, genetics)
- Child
- Child, Preschool
- Female
- Genetic Carrier Screening
(methods)
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Receptors, Glucocorticoid
(genetics)
- Steroid 21-Hydroxylase
(genetics)
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