Pubertal Presentation in Congenital Adrenal Hyperplasia Due to P450 Oxidoreductase Deficiency

Autor: J Idkowiak, S O'Riordan, EM Malunowicz, F Collins, M Kerstens, N Reisch, M Szarras-Czapnik, D Maiter, M Sillink, M Dattani, CHL Shackleton, N Krone, W Arlt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a76e6eb9a430044aca173c7e15b14746
https://doi.org/10.1210/endo-meetings.2010.part2.p15.p2-747

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

Autor: Nguyen HH; Department of Biochemistry, Saarland University, D-66123 Saarbrücken, Campus B2.2, Germany; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Hanoi, Vietnam., Eiden-Plach A; Department of Biochemistry, Saarland University, D-66123 Saarbrücken, Campus B2.2, Germany., Hannemann F; Department of Biochemistry, Saarland University, D-66123 Saarbrücken, Campus B2.2, Germany., Malunowicz EM; Departments of Biochemistry and Experimental Medicine, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Hartmann MF; Steroid Research &Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig-University, Giessen, Germany., Wudy SA; Steroid Research &Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig-University, Giessen, Germany., Bernhardt R; Department of Biochemistry, Saarland University, D-66123 Saarbrücken, Campus B2.2, Germany. Electronic address: ritabern@mx.uni-saarland.de.

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Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

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Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2011 Mar; Vol. 96 (3), pp. E453-62. Date of Electronic Publication: 2010 Dec 29.

Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.

Autor: Idkowiak J; Centre for Endocrinology, Diabetes, and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom., Malunowicz EM, Dhir V, Reisch N, Szarras-Czapnik M, Holmes DM, Shackleton CH, Davies JD, Hughes IA, Krone N, Arlt W

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2010 Jul; Vol. 95 (7), pp. 3418-27. Date of Electronic Publication: 2010 Apr 21.

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.

Autor: Jezela-Stanek A; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. jezela@gmail.com , Ciara E, Malunowicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2008 Mar-Apr; Vol. 51 (2), pp. 124-40. Date of Electronic Publication: 2007 Dec 08.