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Duplication of The

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

Publikováno v: Balkan Journal of Medical Genetics : BJMG

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://explore.openaire.eu/search/publication?articleId=pmid________::13de1568ba7e78e56030f1d10c0700a1
https://pubmed.ncbi.nlm.nih.gov/31523625

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Der nicht klassische 21-Hydroxylasemangel

Autor: F. G. Riepe

Publikováno v: Kinder- und Jugendmedizin. :447-453

ZusammenfassungDas Adrenogenitale Syndrom (AGS) vom Typ des 21-Hydroxylasemangels gehört zu den häufigsten genetischen Erkrankungen. Durch eine Störung der Glukokortikoidbiosynthese in der Nebennierenrinde kommt es zur unzureichenden Synthese von

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fc43598daa3b000bc75588a633a73373
https://doi.org/10.1055/s-0038-1628970

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Rare missense P450c17 (CYP17A1) mutation in exon 1 as a cause of 46,XY disorder of sexual development: implications of breast tissue 'unresponsiveness' despite adequate estradiol substitution

Autor: A P, Athanasoulia, M, Auer, F G, Riepe, G K, Stalla

Publikováno v: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 7(4)

17-Alpha-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disorder resulting from mutations in the CYP17A1 gene, leading to impaired adrenal and gonadal steroidogenesis. We report for the first time a patient with a missense m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9c600178a47e9a0abb42f297cbb0fc2f
https://pubmed.ncbi.nlm.nih.gov/23466679

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Aldosterone synthase deficiency type II with hypospadias

Autor: Z, Gucev, V, Tasic, N, Pop-Jordanova, F G, Riepe

Publikováno v: Indian pediatrics. 49(4)

Aldosterone synthase deficiency (ASD) type II was diagnosed in a 3 week old boy with severe dehydration. Elevated plasma renin activity, low-normal aldosterone, increased levels for 18-OH corticosterone (18-OHB) and 18-OH-deoxycorticosterone were mea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cbba288b8c1a9363b7b1a6dbc5397cd7
https://pubmed.ncbi.nlm.nih.gov/22565077

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Principles and clinical applications of liquid chromatography - tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones

Autor: A E, Kulle, M, Welzel, P-M, Holterhus, F G, Riepe

Publikováno v: Journal of endocrinological investigation. 34(9)

Liquid-chromatography - tandem mass spectrometry (LC-MS/MS) is becoming the method of choice for clinical steroid analysis. In most instances, it has the advantage of higher sensitivity, better reproducibility and greater specificity than commercial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::977036ca4d1cb9cd8bcd46d8cb4cf76e
https://pubmed.ncbi.nlm.nih.gov/21738000

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Androgen receptor mutations are associated with altered epigenomic programming as evidenced by HOXA5 methylation

Autor: S, Bens, O, Ammerpohl, J I, Martin-Subero, M, Appari, J, Richter, O, Hiort, R, Werner, F G, Riepe, R, Siebert, P-M, Holterhus

Publikováno v: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 5(2)

Male external genital differentiation is accompanied by implementation of a long-term, male-specific gene expression pattern indicating androgen programming in cultured genital fibroblasts. We hypothesized the existence of an epigenetic background co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ef2ca44694b01d74ca771ec23d164fd1
https://pubmed.ncbi.nlm.nih.gov/21311178

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