Publications

• Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci. Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, Kuechler A, Wieacker P (2010). Hum. Reprod. [Epub ahead of print] August 4, 2010. DOI:10.1093/humrep/deq167

• A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation. Argyriou L, Hiort O, Meinecke P, Wünsch L, Volleth M, Hinrichs F, Caliebe A, Gillessen-Kaesbach G (2010). Clin. Dysmorphol. [Epub ahead of print] July 27, 2010. DOI: 10.1097/MCD.0b013e32833c8ba1

• 46,XY disorders of sex development – the undermasculinised male with disorders of androgen action. Werner R, Grötsch H, Hiort O (2010). Best Pract Res Clin Endocrinol Metab. 24(2):263-77. DOI:10.1016/J.BEEM.2009.11.002

• Development of an e-learning portal: Educational considerations. Grijpink-van den Biggelaar K, Drop S. Schuwirth L (2010). Horm Res. Paed. 72(3):223-230. DOI:101109/CCGRID.2009.68

• Consequences of the Chicago Consensus on the Disorders of Sex Development (DSD): Current Practices in Europe. Pastersk V, Prentice P, Hughes I. Arch Dis Child. Epub 2009 Sep 22. DOI: 101136/adc.2009.163840

• Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes. Holterhus PM, Bebermeier JH, Werner R, Demeter J, Richter-Unruh A, Cario G, Appari M, Siebert R, Riepe F, Brooks JD, Hiort O (2009). BMC Genomics, 10(1):292. DOI:10.1186/1471-2164-10-292

• The descriptive epidemiology of congenital and acquired cryptorchidism in a UK infant cohort. Acerini CL, Miles HL, Dunger DB, Ong KK, Hughes IA. (2009) Arch Dis Child. 94(11):868-872. DOI:10:1136/ADC:2008:150219

• The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. Koehler B, Lin L, Mazen I, Cetindag C, Biebermann H, Akkurt I, Rossi R, Hiort O, Grueters A, Achermann J. (2009) Eur J Endocrinol. 161(2):237-242. DOI:10.1530/EJE-09-0067

• Mutations in NR5A1 associated with ovarian insufficiency. Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A. (2009) N Engl J Med.; 360(12):1200-1210. Epub 2009 Feb 25. DOI: 10.1056/NEJMoa0806228

• Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, Coussieu C, Morel Y, Vaury C, Golmard JL, Claustre A, Mornet E, Chakhtoura Z, Mowszowicz I, Bachelot A, Touraine P, Kuttenn F. (2009). J Clin Endocrinol Metab.; 94(5):1570-1578. Epub 2009 Feb 10. DOI:10.1210/jc.2008-1582

• Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome. Appari M, Werner R, Wünsch L, Cario G, Demeter J, Hiort O, Riepe F, D Brooks J, Holterhus PM. (2009) J Mol Med.;87(6):623-632. Epub 2009 Mar 30. DOI:10.1007/s00109-009-0462-3

• Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Lin L, Achermann JC. (2008) Sex Dev.; 2(4-5):200-209. Epub 2008 Nov 5. Review. DOI:10.1159/000152036

• Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate. Jochumsen U, Werner R, Miura N, Richter-Unruh A, Hiort O, Holterhus PM. (2008) Sex Dev.;2(6):302-308. Epub 2009 Mar 10. DOI:10.1159/000195679

• Congenital adrenal hyperplasia due to 11-hydroxylase deficiency – insights from two novel CYP11B1 mutations (p.M92X, p.R453Q). Krone N, Grötzinger J, Holterhus PM, Sippell WG, Schwarz HP, Riepe FG (2009). Horm Res. 72(5):281-286. DOI:10.1159/000245930 

• Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor and androgen insensitivity syndrome phenotype. Tadokoro R, Bunch T, Schwabe JW, Hughes IA, Murphy JC. (2008) Clin Endocrinol (Oxf). 71(2):253-260. DOI:10.1111/j.1365-2265.2008.03462.x

• In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. Werner R, Zhan J, Gesing J, Struve D, Hiort O. (2008) Sex Dev. 2(2):73-83. Epub 2008 Jun 20. DOI:10.1159/000129692

• Differential diagnosis of disorders of sex development in Egypt. Mazen I, Hiort O, Bassiouny R, El Gammal M. (2008) Horm Res.;70(2):118-23. Epub 2008 Jun 12. DOI:10.1159/000137657

• Revealing a subclinical salt-loosing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. Riepe FG, van Bemmelen MX, Cachat F, Plendl H, Gautschi I, Krone N, Holterhus PM, Theintz G, Schild L (2009). Clin Endocrinol. 70(2):252-258. DOI:10.1111/j.1365-2265.2008.03314.x

• Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction. Riepe FG, Hiort O, Grötzinger J, Sippell WG, Krone N, Holterhus PM (2008). J Clin Endocrinol Metab. 93(7):2891-2895. DOI:10.1210/jc.2007-2646

• Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. Welzel M, Wüstemann N, Simic-Schleicher G, Dörr HG, Schulze E, Shaikh G, Clayton P, Grötzinger J, Holterhus PM, Riepe FG (2008). J Clin Endocrinol Metab. 93:1418-1425

• 17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence. Bertelloni S, Balsamo A, Giordani L, Fischetto R, Russo G, Delvecchio M, Gennari M, Nicoletti A, Maggio MC, Concolino D, Cavallo L, Cicognani A, Chiumello G, Hiort O, Baroncelli GI, Faienza MF (2009). J Clin Endocrinol Invest. 32(8):666-670. DOI:10.3275/6281

• Towards a Virtual Research Environment for Paediatric Endocrinology across Europe. Jipu Jiang, Richard Sinnott, Anthony Stell, John Watt and Faisal Ahmed (2009). IEEE Computer Society 496-501. DOI: 10.1109/CCGRID.2009.68
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• EuroDSD Newsletter, National e-Science Centre, Glasgow, Richard Sinnott, Jipu Jiang
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• About EuroDSD, Coordinator of the project, Hiort O, University Luebeck, Germany
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