Article
No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 May 2010
Welzel M, Schwarz H-P, Hedderich J, Dörr H G, Binder G, Brämswig J H, Krude H, Richter-Unruh A, Niedziela M, Gromoll J, Krone N, Riepe F G, Holterhus P-M
Abstract excerpt
CONTEXT: In 21-hydroxylase (CYP21A2) deficiency (21OHD), the level of in vitro enzymatic function allows for classification of mutation groups (null, A, B, C) and prediction of disease severity. However, genital virilization in affected females correlates only weakly with CYP21A2 mutation groups, suggesting the influence of genetic modifiers. OBJECTIVE: The objective of the study was to investigate the influence...
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