Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

by Heike Hoyer-Kuhn, Angela Huebner, Anette Richter-Unruh, Markus Bettendorf, Tilman Rohrer, Klaus Kapelari, Stefan Riedl, Klaus Mohnike, Helmuth-Günther Dörr, Friedrich-Wilhelm Roehl, Katharina Fink, Reinhard W Holl, Joachim Woelfle
Published 2021-05-01

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

by Vassos Neocleous, Christos Shammas, Alexia AP Phedonos, Leonidas A Phylactou, Nicos Skordis
Published 2014-01-01

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patien...

by Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike
Published 2019-01-01

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

by Helmuth G. Dörr, Hartmut A. Wollmann, Berthold P. Hauffa, Joachim Woelfle, on behalf of the German Society of Pediatric Endocrinology and Diabetology
Published 2018-06-01

Clinical Characteristics of Taiwanese Children With Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency in the Pre-screening Era

by Cheng-Ting Lee, Yi-Ching Tung, Pei-Hung Hsiao, Jing-Sheng Lee, Wen-Yu Tsai
Published 2010-02-01

Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

by Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
Published 2016-03-01

Compound heterozygosity for a whole gene deletion and p.R124C mutation in causing nonclassic congenital adrenal hyperplasia

by Hamza Nasir, Syed Ibaad Ali, Naeem Haque, Stefan K. Grebe, Salman Kirmani
Published 2018-09-01

Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development

by Lasma Lidaka, Laine Bekere, Gunta Lazdane, Iveta Dzivite-Krisane, Anda Kivite-Urtane, Linda Gailite
Published 2021-05-01

Molecular genetic strategy for diagnosis of congenital adrenal hyperplasia in Serbia

by Ugrin Milena, Milačić Iva, Skakić Anita, Klaassen Kristel, Komazec Jovana, Pavlović Sonja, Stojiljković Maja
Published 2017-01-01

Direct molecular diagnosis of CYP21A2 point mutations in Macedonian and Serbian patients with 21-hydroxylase deficiency

by Anastasovska Violeta, Milenković Tatjana, Kocova Mirjana
Published 2015-01-01

Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects

by Bo Hou, Xuewen Jia, Ziwen Deng, Xin Liu, Huitang Liu, Haichu Yu, Shiguo Liu
Published 2020-09-01

Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach

by Sarantis Livadas, Christina Bothou
Published 2019-06-01

ANALYSIS CYP21A2 GENE MUTATIONS TECHNIQUE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA

by Chernushyn S. Yu., Livshits L. A.
Published 2014-02-01

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center

by Yangho Yoo, Mi Sun Chang, Jieun Lee, Sung Yoon Cho, Sung Won Park, Dong-Kyu Jin, Hyung-Doo Park
Published 2013-09-01

Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines

by Christopher N. Greene, Suzanne K. Cordovado, Daniel P. Turner, Lisa M. Keong, Dorothy Shulman, Patricia W. Mueller
Published 2014-01-01

The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family

by Mirjana Kocova, Violeta Anastasovska, Iskra Bitovska
Published 2019-06-01

Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

by Vassos Neocleous, Vassos Neocleous, Pavlos Fanis, Pavlos Fanis, Leonidas A. Phylactou, Leonidas A. Phylactou, Nicos Skordis, Nicos Skordis, Nicos Skordis
Published 2018-12-01

Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

by Eunice Marumudi, Arundhati Sharma, Bindu Kulshreshtha, Rajesh Khadgawat, Madan L Khurana, Ariachery C Ammini
Published 2012-01-01

PB-Motif—A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping

by Zachary Stephens, Dragana Milosevic, Benjamin Kipp, Stefan Grebe, Ravishankar K. Iyer, Jean-Pierre A. Kocher
Published 2021-07-01

Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH-X

by Vipula Kolli, Hannah Kim, Hamsini Rao, Qizong Lao, Alison Gaynor, Joshua D. Milner, Deborah P. Merke
Published 2019-10-01