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Keywords: 11β-Hydroxylase deficiency
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Journal Articles

Restoration of Height after 11 Years of Letrozole Treatment in 11β-Hydroxylase Deficiency

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Subject Area:
Endocrinology , Women's and Children's Health
Zeynep Atay, Serap Turan, Onur Buğdaycı, Tulay Guran, Abdullah Bereket
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2020) 92 (3): 203–208.
https://doi.org/10.1159/000501456
Published Online: 27 August 2019
...Zeynep Atay; Serap Turan; Onur Buğdaycı; Tulay Guran; Abdullah Bereket 11β-hydroxylase deficiency (11β-OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Males with 11β-OHD CAH are often diagnosed late with a significantly advanced bone age leading to a poor height...
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Journal Articles

Neonatal Screening: Identification of Children with 11β-Hydroxylase Deficiency by Second-Tier Testing

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Subject Area:
Endocrinology , Women's and Children's Health
Nils Janzen, Felix G. Riepe, Michael Peter, Stefanie Sander, Ulrike Steuerwald, Eckhard Korsch, Friedrich Krull, Hermann L. Müller, Sabine Heger, Christoph Brack, Johannes Sander
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2012) 77 (3): 195–199.
https://doi.org/10.1159/000337974
Published Online: 13 April 2012
... hyperplasia (CAH). We describe the additional detection of patients suffering from 11β-hydroxylase deficiency (11-OHD) by second-tier testing. Method: Over a period of 5 years, screening for CAH was done in a total of 986,098 newborns by time-resolved immunoassay (DELFIA®) for 17α-hydroxyprogesterone (17-OHP...
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Journal Articles

Clinical Variability of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

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Subject Area:
Endocrinology
Ariel Rösler, Esther Leiberman, Joseph Sack, Hedy Landau, Abraham Benderly, Shimon W. Moses, Tirza Cohen
Journal: Hormone Research in Paediatrics
Hormone Research (1982) 16 (3): 133–141.
https://doi.org/10.1159/000179494
Published Online: 25 November 2008
...Ariel Rösler; Esther Leiberman; Joseph Sack; Hedy Landau; Abraham Benderly; Shimon W. Moses; Tirza Cohen Studies in 18 Jewish families from Morocco, Tunis, Turkey and Iran revealed 26 patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. The clinical expression of androgen...
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Journal Articles

Steroid 11-Beta-Hydroxylase Deficiency Caused by Compound Heterozygosity for a Novel Mutation, p.G314R, in One CYP11B1 Allele, and a Chimeric CYP11B2/CYP11B1 in the Other Allele

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Subject Area:
Endocrinology , Women's and Children's Health
Isao Kuribayashi, Satoshi Nomoto, Guy Massa, Wilma Oostdijk, Jan M. Wit, Bruce H.R. Wolffenbuttel, Yutaka Shizuta, Koichi Honke
Journal: Hormone Research in Paediatrics
Hormone Research (2005) 63 (6): 284–293.
https://doi.org/10.1159/000087074
Published Online: 10 August 2005
...Isao Kuribayashi; Satoshi Nomoto; Guy Massa; Wilma Oostdijk; Jan M. Wit; Bruce H.R. Wolffenbuttel; Yutaka Shizuta; Koichi Honke Aims: Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common (5–8%) cause of congenital adrenal hyperplasia (CAH), and results from homozygous or compound...
View article titled, Steroid 11-Beta-Hydroxylase Deficiency Caused by Compound Heterozygosity for a Novel Mutation, p.G314R, in One CYP11B1 Allele, and a Chimeric CYP11B2/CYP11B1 in the Other Allele
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Journal Articles

Hyperplasia of Adrenal Rest Tissue Causing a Retroperitoneal Mass in a Child with 11β-Hydroxylase Deficiency

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Subject Area:
Endocrinology , Women's and Children's Health
Helen L. Storr, Tara D. Barwick, Graeme A.I. Snodgrass, Robert Booy, Yves Morel, Rodney H. Reznek, Martin O. Savage
Journal: Hormone Research in Paediatrics
Hormone Research (2003) 60 (2): 99–102.
https://doi.org/10.1159/000071878
Published Online: 31 July 2003
...Helen L. Storr; Tara D. Barwick; Graeme A.I. Snodgrass; Robert Booy; Yves Morel; Rodney H. Reznek; Martin O. Savage We report the case of a child with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency, with hyperplasia of adrenal rest tissue presenting as a retroperitoneal mass...
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