Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

被引:1
|
作者
Helmuth-Günther Dörr
Nadja Schulze
Markus Bettendorf
Gerhard Binder
Walter Bonfig
Christian Denzer
Desiree Dunstheimer
Kirsten Salzgeber
Heinrich Schmidt
Karl Otfried Schwab
Egbert Voss
Martin Wabitsch
Joachim Wölfle
机构
[1] University Children’s Hospital,Paediatric Endocrinology
[2] University Children’s Hospital,Paediatric Endocrinology
[3] University Children’s Hospital,Paediatric Endocrinology
[4] Hospital Wels-Grieskirchen,Departement of Paediatrics
[5] University Children’s Hospital,Paediatric Endocrinology
[6] University Children’s Hospital I,Medical Office
[7] Endokrinologikum,Paediatric Endocrinology
[8] University Children’s Hospital,Paediatric Endocrinology
[9] University Children’s Hospital,Departament of Paediatrics
[10] Cnopfsche Kinderklinik,undefined
关键词
CYP21A2 mutations; 21-Hydroxylase deficiency; Androgenisation; Premature pubarche; 17OHP; ACTH stimulation test;
D O I
10.1186/s40348-020-00100-w
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