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Akademický článek

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

Autor: Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, Gucev Z

Publikováno v: Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 81-88 (2019)

Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in m

Externí odkaz: https://doaj.org/article/3689e0aa91e7417bafd04f5ae92fb96c

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Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Autor: Menabò S; Program of Pediatric Endocrinology, Pediatric Unit, Department of Medical and Surgical Sciences; Azienda Policlinico S. Orsola Malpighi, University of Bologna, Bologna, Italy., Polat S; Medical Genetics Department, Erciyes University, Kayseri, Turkey., Baldazzi L; Program of Pediatric Endocrinology, Pediatric Unit, Department of Medical and Surgical Sciences; Azienda Policlinico S. Orsola Malpighi, University of Bologna, Bologna, Italy., Kulle AE; Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital, Schleswig-Holstein, Campus Kiel, Kiel, Germany., Holterhus PM; Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital, Schleswig-Holstein, Campus Kiel, Kiel, Germany., Grötzinger J; Biochemical Institute, Christian-Albrecht University of Kiel, Kiel, Germany., Fanelli F; Endocrinology Unit-Department of Medical and Surgical Sciences, Center for Applied Biomedical Research (CRBA), Bologna, Italy., Balsamo A; Program of Pediatric Endocrinology, Pediatric Unit, Department of Medical and Surgical Sciences; Azienda Policlinico S. Orsola Malpighi, University of Bologna, Bologna, Italy. antonio.balsamo@unibo.it., Riepe FG; Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital, Schleswig-Holstein, Campus Kiel, Kiel, Germany.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 May; Vol. 28 (5), pp. 692.

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Periodical

Duplication of the SOX3gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

Autor: Tasic, V, Mitrotti, A, Riepe, FG, Kulle, AE, Laban, N, Polenakovic, M, Plaseska-Karanfilska, D, Sanna-Cherchi, S, Kostovski, M, Gucev, Z

Publikováno v: Balkan Journal of Medical Genetics; August 2019, Vol. 22 Issue: 1 p81-88, 8p

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Akademický článek

Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/ CYP11B1 Gene.

Autor: Wenjuan Cai¹, Dan Yu¹, Jian Gao¹, Qian Deng¹, Huihui Lin², Yuqing Chen¹ chenyuqing_815@163.com

Publikováno v: Journal of Clinical Research in Pediatric Endocrinology. Sep2024, Vol. 16 Issue 3, p372-378. 7p.

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Akademický článek

Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation - A Case Report and Review of the Literature: Implications for the Pathomechanism.

Autor: Nagel SA; Department of Pediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany, Stella.Nagel@gmx.de.; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany, Stella.Nagel@gmx.de., Hartmann MF; Steroid Research and Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany., Riepe FG; Pediatric Endocrinology, Kronshagen, Germany., Wudy SA; Steroid Research and Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany., Wabitsch M; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany.

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2019; Vol. 91 (5), pp. 336-345. Date of Electronic Publication: 2018 Dec 11.

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Akademický článek

Cardiac arrest in a newborn: A case of pseudohypoaldosteronism.

Autor: Tauber, Kate A.¹ (AUTHOR) tauberk@amc.edu, Ermacor, Kimberly¹ (AUTHOR), Listman, James¹ (AUTHOR)

Publikováno v: Clinical Case Reports. Feb2024, Vol. 12 Issue 2, p1-5. 5p.

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