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Olaf Hiort

Research Profile

Chemicals & Drugs

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Nicolas Kalfa; Jean-Yves Kurzenne; Gérard Morisson Lacombe; Hélène Lehors; Kenneth McElreavey; Mattea Orsini; Françoise Paris; Pascal Philibert; Rachel Reynaud; Pierre Alessandrini; Françoise Audran; Anu Bashamboo; Florence Bastiani; Jean Bréaud; Jean-Pierre Daures; Jean-Michel Guys; Myriam Haddad; Olaf Hiort; Jean Stéphane Valla; Kathy Wagner; Ralf Werner; Charles Sultan
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.
Olaf Hiort
Clinical and molecular aspects of androgen insensitivity.
Olaf Hiort; Leendert Looijenga; Lutz Wünsch; Martine Cools; Peter Cuckow
Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development.

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2013: Nicolas Kalfa; Jean-Yves Kurzenne; Gérard Morisson Lacombe; Hélène Lehors; Kenneth McElreavey; Mattea Orsini; Françoise Paris; Pascal Philibert; Rachel Reynaud; Pierre Alessandrini; Françoise Audran; Anu Bashamboo; Florence Bastiani; Jean Bréaud; Jean-Pierre Daures; Jean-Michel Guys; Myriam Haddad; Olaf Hiort; Jean Stéphane Valla; Kathy Wagner; Ralf Werner; Charles Sultan
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.
PloS one 2013;8(4):e61824.
2013: Olaf Hiort
Clinical and molecular aspects of androgen insensitivity.
Endocrine development 2013;24():33-40.
2012: Olaf Hiort; Leendert Looijenga; Lutz Wünsch; Martine Cools; Peter Cuckow
Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development.
Journal of pediatric urology 2012;8(6):624-8.
2012: Agnès Linglart; Giovanna Mantovani; Maria Teresa Muñoz-Calvo; Arrate Pereda; Guiomar Perez de Nanclares; Annette Richter-Unruh; Dorothée Schmidt; Jesús Argente; Sara Berrade; Guylene Bertrand; Emese Boros; Pierre Bougnères; Marco Castori; Virginie Chassot; Eric Clauser; Helena Fryssira; Yasemin Gunes; Claudine Heinrichs; Olaf Hiort; Paul-Martin Holterhus; Alma Kuechler; Bruno Leheup; Philippe Wicart; Oscar Rubio Cabezas; Caroline Silve
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
The Journal of clinical endocrinology and metabolism 2012;97(12):E2328-38.
2012: Lutz Wünsch; Paul-Martin Holterhus; Lukas Wessel; Olaf Hiort
Patients with disorders of sex development (DSD) at risk of gonadal tumour development: management based on laparoscopic biopsy and molecular diagnosis.
BJU international 2012;110(11 Pt C):E958-65.
2012: Ieuan Arwel Hughes; Ralf Werner; Trevor Bunch; Olaf Hiort
Androgen insensitivity syndrome.
Seminars in reproductive medicine 2012;30(5):432-42.
2012: K Lau; R P Willig; Olaf Hiort; P H Hoeger
Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism.
Clinical and experimental dermatology 2012;37(6):646-8.
2012: Helga Grötsch; Olaf Hiort; Ieuan A Hughes; Marlene Kunert; Katrin A Mooslehner; Dagmar Struve; Zhigang Gao; Ralf Werner
RWDD1 interacts with the ligand binding domain of the androgen receptor and acts as a coactivator of androgen-dependent transactivation.
Molecular and cellular endocrinology 2012;358(1):53-62.
2012: Susanne Ledig; Olaf Hiort; Lutz Wünsch; Peter Wieacker
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.
European journal of endocrinology / European Federation of Endocrine Societies 2012;167(1):119-24.
2012: Gianni Russo; Alessandra di Lascio; Matilde Ferrario; Olaf Hiort; Silvia Meroni; Giuseppe Chiumello
46,XY karyotype in a female phenotype fetus: a challenging diagnosis.
Journal of pediatric and adolescent gynecology 2012;25(3):e77-9.
2012: Birgit Köhler; Anke Lux; Ute Thyen; Annette Grüters; Olaf Hiort; Eva Kleinemeier
Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study.
The Journal of clinical endocrinology and metabolism 2012;97(2):577-88.
2012: Gil Guerra-Junior; Olaf Hiort; Ana Claudia Latronico; Rodolfo Rey
Disorders of sex development and hypogonadism: genetics, mechanism, and therapies.
International journal of endocrinology 2012;2012():820373.
2012: Ayfer Alikasifoglu; Huseyin Demirbilek; Nazli Gonc; Olaf Hiort; Emregul Isik; Nurgun Kandemir
17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.
Journal of pediatric endocrinology & metabolism : JPEM 2012;25(5-6):561-3.
2012: Ralf Werner; S Wudy; S Bertelloni; U Döhnert; M F Hartmann; Paul-Martin Holterhus; A Kulle; H Merz; Felix G Riepe; I Sommerfeld; Olaf Hiort
Testosterone synthesis in patients with 17β-hydroxysteroid dehydrogenase 3 deficiency.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2012;6(4):161-8.
2011: Peter J Malloy; Jining Wang; Yulin Zhou; Olaf Hiort; David Feldman
Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011;26(11):2710-8.
2011: Celia Zazo; Susanne Thiele; Ralf Werner; Eduardo Fernandez-Rebollo; Intza Garin; Olaf Hiort; Cesar Martín; Lorea Martinez-Indart; Guiomar Perez de Nanclares
Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011;26(8):1864-70.
2011: Birgit Köhler; Rolf F Maier; M Pohl; Peter Wieacker; Heike Biebermann; V Friedsam; J Gellermann; Annette Grüters; Olaf Hiort; Heiko Krude
Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development.
The Journal of clinical endocrinology and metabolism 2011;96(7):E1131-6.
2011: Susanne Thiele; Luisa de Sanctis; Ralf Werner; Joachim Grötzinger; Cumhur Aydin; Harald Jüppner; Murat Bastepe; Olaf Hiort
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
Human mutation 2011;32(6):653-60.
2011: Olaf Hiort
Diagnostic pathways in disorders of sex development.
Clinical biochemistry 2011;44(7):509.
2011: Julia Winter; Susanne Thiele; Pia Hermanns; Olaf Hiort; Joachim Pohlenz
A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.
Journal of pediatric endocrinology & metabolism : JPEM 2011;24(5-6):297-301.
2011: Berthold P Hauffa; Olaf Hiort
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
Endocrine development 2011;20():54-62.
2010: Loukas Argyriou; Olaf Hiort; Peter Meinecke; Lutz Wünsch; Marianne Volleth; Frauke Hinrichs; Almuth Caliebe; Gabriele Gillessen-Kaesbach
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.
Clinical dysmorphology 2010;19(4):190-4.
2010: Silvano Bertelloni; Olaf Hiort
Disorders of sex development (DSD). Preface.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2010;4(4-5):191.
2010: M Jürgensen; E Kleinemeier; A Lux; Thomas Steensma; P T Cohen-Kettenis; Olaf Hiort; Ute Thyen
Psychosexual development in children with disorder of sex development (DSD)--results from the German Clinical Evaluation Study.
Journal of pediatric endocrinology & metabolism : JPEM 2010;23(6):565-78.
2010: A E Kulle; Felix G Riepe; D Melchior; Olaf Hiort; Paul-Martin Holterhus
A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference data.
The Journal of clinical endocrinology and metabolism 2010;95(5):2399-409.
2010: Ralf Werner; Helga Grötsch; Olaf Hiort
46,XY disorders of sex development--the undermasculinised male with disorders of androgen action.
Best practice & research. Clinical endocrinology & metabolism 2010;24(2):263-77.
2010: Eva Klopocki; Bianca P Hennig; Katarina Dathe; Randi Koll; Thomy de Ravel; Emiel Baten; Eveline Blom; Yves Gillerot; Johannes F W Weigel; Gabriele Krüger; Olaf Hiort; Petra Seemann; Stefan Mundlos
Deletion and point mutations of PTHLH cause brachydactyly type E.
American journal of human genetics 2010;86(3):434-9.
2010: Susanne Thiele; Ralf Werner; Wiebke Ahrens; A Hübner; K G Hinkel; W Höppner; B Igl; Olaf Hiort
Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2010;118(2):127-32.
2010: Şenay Savaş Erdeve; Zeynep Şıklar; Merih Berberoğlu; Olcay Evliyaoğlu; Olaf Hiort; Gönül Öcal
Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5.
Journal of clinical research in pediatric endocrinology 2010;2(2):85-8.
2010: Kerstin N Walter; Frederike B Kienzle; A Frankenschmidt; Olaf Hiort; Stefan A Wudy; Natascha van der Werf-Grohmann; andrea superti-furga; Karl Otfried Schwab
Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD.
Hormone research in pædiatrics 2010;74(1):67-71.
2009: Birgit Köhler; Lin Lin; Inas Mazen; Cigdem Cetindag; Heike Biebermann; Ilker Akkurt; Rainer Rossi; Olaf Hiort; Annette Grüters; John C Achermann
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.
European journal of endocrinology / European Federation of Endocrine Societies 2009;161(2):237-42.
2009: Luitgard M Graul-Neumann; Alexia Bach; Michael Albani; Hannelore Ringe; Andreas Weimann; Wolfram Kress; Olaf Hiort; Oliver Bartsch
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding.
American journal of medical genetics. Part A 2009;149A(7):1487-93.
2009: Mahesh Appari; Ralf Werner; Lutz Wünsch; Gunnar Cario; Janos Demeter; Olaf Hiort; Felix G Riepe; James D Brooks; Paul-Martin Holterhus
Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome.
Journal of molecular medicine (Berlin, Germany) 2009;87(6):623-32.
2009: Verena M Wagner; Britta Kremke; Olaf Hiort; Sarah E Flanagan; Ewan R Pearson
Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy.
European journal of pediatrics 2009;168(3):359-61.
2009: Serap Semiz; Fusun Duzcan; Masallah Candemir; Vildan Caner; Susanne Thiele; Ender Semiz; Olaf Hiort
Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation.
Journal of pediatric endocrinology & metabolism : JPEM 2009;22(2):107-8.
2009: B Kremke; C Bergwitz; W Ahrens; Snjezana M Schütt; M Schumacher; V Wagner; Paul-Martin Holterhus; H Jüppner; Olaf Hiort
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2009;117(2):49-56.
2009: Paul-Martin Holterhus; Jan-Hendrik Bebermeier; Ralf Werner; Janos Demeter; Annette Richter-Unruh; Gunnar Cario; Mahesh Appari; Reiner Siebert; Felix G Riepe; James D Brooks; Olaf Hiort
Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes.
BMC genomics 2009;10():292.
2009: Sven R Quist; Ingolf Franke; Olaf Hiort; Harald Gollnick; Martin Leverkus
First diagnosis of Martin-Albright syndrome in a 58-year-old patient.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2009;7(1):43-5.
2008: Hartwig W Lehmann; Nicola Lutterbüse; Annelie Plentz; Ilker Akkurt; Norbert Albers; Berthold P Hauffa; Olaf Hiort; Eckhard Schoenau; Susanne Modrow
Association of parvovirus B19 infection and Hashimoto's thyroiditis in children.
Viral immunology 2008;21(3):379-83.
2008: Andreas Weinhaeusel; Susanne Thiele; Manuela Hofner; Olaf Hiort; Christa Noehammer
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib.
Clinical chemistry 2008;54(9):1537-45.
2008: Felix G Riepe; Olaf Hiort; Joachim Grötzinger; Wolfgang G Sippell; Nils Krone; Paul-Martin Holterhus
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.
The Journal of clinical endocrinology and metabolism 2008;93(7):2891-5.
2008: Inas Mazen; Olaf Hiort
The First Egyptian-German workshop on disorders of sex development (DSD) National Research Centre, Cairo, Egypt, 24-25 November 2007.
Pediatric endocrinology reviews : PER 2008;5(4):922-3.
2008: U Jochumsen; Ralf Werner; N Miura; A Richter-Unruh; Olaf Hiort; Paul-Martin Holterhus
Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2008;2(6):302-8.
2008: Ralf Werner; J Zhan; J Gesing; Dagmar Struve; Olaf Hiort
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2008;2(2):73-83.
2008: Inas Mazen; Olaf Hiort; R Bassiouny; Mona A El Gammal
Differential diagnosis of disorders of sex development in Egypt.
Hormone research 2008;70(2):118-23.
2008: Olaf Hiort
Alternative gender categories in different cultures: lessons to be learnt. Commentary on Lang and Kuhnle: intersexuality and alternative gender categories in non-Western cultures (Horm Res 2008;69:240-250).
Hormone research 2008;69(4):251-2.
2007: Ute Thyen; Eva Hampel; Olaf Hiort
[Disorders of sex development].
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz 2007;50(12):1569-77.
2007: Guiomar Pérez de Nanclares; Eduardo Fernández-Rebollo; Izortze Santin; Beatriz García-Cuartero; Sonia Gaztambide; Edelmiro Menéndez Torre; Maria Jose Morales; Manuel Pombo; J Ramón Bilbao; Francisco Barros; Nuria Zazo; Wiebke Ahrens; Harald Jüppner; Olaf Hiort; Luis Castaño; Murat Bastepe
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
The Journal of clinical endocrinology and metabolism 2007;92(6):2370-3.
2007: Hermann J Girschick; Imme Haubitz; Olaf Hiort; Peter Schneider
Long-term follow-up of bone mineral density in childhood hypophosphatasia.
Joint, bone, spine : revue du rhumatisme 2007;74(3):263-9.
2007: Susanne Thiele; Ralf Werner; Wiebke Ahrens; Ute Hoppe; Christine Marschke; Pia Staedt; Olaf Hiort
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.
The Journal of clinical endocrinology and metabolism 2007;92(5):1764-8.
2007: Paul-Martin Holterhus; Rainer Odendahl; Sandra Oesingmann; Rudolf Lepler; Verena Wagner; Olaf Hiort; Reinhard W Holl
Classification of distinct baseline insulin infusion patterns in children and adolescents with type 1 diabetes on continuous subcutaneous insulin infusion therapy.
Diabetes care 2007;30(3):568-73.
2007: Martina Jürgensen; Olaf Hiort; Paul-Martin Holterhus; Ute Thyen
Gender role behavior in children with XY karyotype and disorders of sex development.
Hormones and behavior 2007;51(3):443-53.
2007: Eric Vilain; John C Achermann; Erica A Eugster; Vincent R Harley; Yves Morel; Jean D Wilson; Olaf Hiort
We used to call them hermaphrodites.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(2):65-6.
2007: Ute Hoppe; Lutz Wünsch; Paul-Martin Holterhus; D Jocham; A Richter-Unruh; Olaf Hiort
Altered transcription profiles of key-enzymes of androgen biosynthesis in genital skin fibroblasts from patients with 46,XY disorders of sex development (DSD).
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2007;1(4):230-7.
2007: Paul-Martin Holterhus; Uta Deppe; Ralf Werner; Annette Richter-Unruh; Jan-Hendrik Bebermeier; Lutz Wünsch; Susanne Krege; Hans-Udo Schweikert; Janos Demeter; Felix Riepe; Olaf Hiort; James D Brooks
Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.
BMC genomics 2007;8():376.
2006: Arieh Riskin; Ilana Koren; David Bader; Marta Grün; Hanna Dar; Zvi Leibovitz; Amir Kugelman; Olaf Hiort
The approach to a neonate with a possible prenatal diagnosis of androgen insensitivity syndrome.
Journal of pediatric endocrinology & metabolism : JPEM 2006;19(12):1437-43.
2006: Jan-Hendrik Bebermeier; James D Brooks; Samuel E DePrimo; Ralf Werner; Uta Deppe; Janos Demeter; Olaf Hiort; Paul-Martin Holterhus
Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription.
Journal of molecular medicine (Berlin, Germany) 2006;84(11):919-31.
2006: Regina Fölster-Holst; Felix G Riepe; W Ahrens; M Möller; Jochen Brasch; Carl-Joachim Partsch; Olaf Hiort; W G Sippell
[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2006;57(10):893-7.
2006: Andrea Luczay; János Sólyom; Olaf Hiort; Eva Szabó; Matild Dobos; Zoltán Jenovári; György Fekete
[Incomplete androgen insensitivity].
Orvosi hetilap 2006;147(37):1805-7.
2006: Silvano Bertelloni; Maria Cristina Maggio; Giovanni Federico; Giampiero Igli Baroncelli; Olaf Hiort
17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2006;22(9):488-94.
2006: Ralf Werner; Jenny Schütt; Sabine Hannema; Albrecht Röpke; Peter Wieacker; Olaf Hiort; Paul-Martin Holterhus
Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs.
The Journal of steroid biochemistry and molecular biology 2006;101(1):1-10.
2006: Ralf Werner; Paul-Martin Holterhus; Gerhard Binder; Hans-Peter Schwarz; Michel Morlot; Dagmar Struve; Christine Marschke; Olaf Hiort
The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats.
The Journal of clinical endocrinology and metabolism 2006;91(9):3515-20.
2006: Ute Hoppe; Paul-Martin Holterhus; Lutz Wünsch; D Jocham; T Drechsler; Susanne Thiele; Christine Marschke; Olaf Hiort
Tissue-specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor.
Journal of molecular medicine (Berlin, Germany) 2006;84(8):651-9.
2006: Martina Jürgensen; Eva Hampel; Olaf Hiort; Ute Thyen
"Any decision is better than none" decision-making about sex of rearing for siblings with 17beta-hydroxysteroid-dehydrogenase-3 deficiency.
Archives of sexual behavior 2006;35(3):359-71.
2006: Wiebke Ahrens; Olaf Hiort
Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy.
Journal of pediatric endocrinology & metabolism : JPEM 2006;19 Suppl 2():647-51.
2006: S von Sengbusch; Esther Müller-Godeffroy; S Häger; Ralf Reintjes; Olaf Hiort; V Wagner
Mobile diabetes education and care: intervention for children and young people with Type 1 diabetes in rural areas of northern Germany.
Diabetic medicine : a journal of the British Diabetic Association 2006;23(2):122-7.
2006: Ute Thyen; Kathrin Lanz; Paul-Martin Holterhus; Olaf Hiort
Epidemiology and initial management of ambiguous genitalia at birth in Germany.
Hormone research 2006;66(4):195-203.
2006: Hermann J Girschick; Peter Schneider; Imme Haubitz; Olaf Hiort; Hartmut Collmann; M Beer; Y S Shin; H W Seyberth
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia.
Orphanet journal of rare diseases 2006;1():24.
2005: Paul-Martin Holterhus; Ralf Werner; Ute Hoppe; J Bassler; Eckhard Korsch; M B Ranke; H G Dörr; Olaf Hiort
Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.
Journal of molecular medicine (Berlin, Germany) 2005;83(12):1005-13.
2005: Paul-Martin Holterhus; Ralf Werner; Dagmar Struve; B P Hauffa; C Schroeder; Olaf Hiort
Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2005;113(8):457-63.
2005: Mithat Bahceci; Ahmet Resit Ersay; Alpaslan Tuzcu; Olaf Hiort; Annette Richter-Unruh; Deniz Gokalp
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.
Urology 2005;66(2):407-10.
2005: Susanne Thiele; Ute Hoppe; Paul-Martin Holterhus; Olaf Hiort
Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males.
European journal of endocrinology / European Federation of Endocrine Societies 2005;152(6):875-80.
2005: Felix G Riepe; Wiebke Ahrens; Nils Krone; Regina Fölster-Holst; Jochen Brasch; Wolfgang G Sippell; Olaf Hiort; Carl-Joachim Partsch
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
European journal of endocrinology / European Federation of Endocrine Societies 2005;152(4):515-9.
2005: Annette Richter-Unruh; Eckhard Korsch; Olaf Hiort; Paul-Martin Holterhus; Axel P N Themmen; S A Wudy
Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis.
European journal of endocrinology / European Federation of Endocrine Societies 2005;152(2):255-9.
2005: Olaf Hiort; Ute Thyen; Paul-Martin Holterhus
The basis of gender assignment in disorders of somatosexual differentiation.
Hormone research 2005;64 Suppl 2():18-22.
2005: Paul-Martin Holterhus; J Salzburg; Ralf Werner; Olaf Hiort
Transactivation properties of wild-type and mutant androgen receptors in transiently transfected primary human fibroblasts.
Hormone research 2005;63(3):152-8.
2005: Ute Thyen; Hertha Richter-Appelt; Claudia Wiesemann; Paul-Martin Holterhus; Olaf Hiort
Deciding on gender in children with intersex conditions: considerations and controversies.
Treatments in endocrinology 2005;4(1):1-8.
2005: Olaf Hiort; Paul-Martin Holterhus; Ralf Werner; Christine Marschke; Ute Hoppe; Carl-Joachim Partsch; Felix G Riepe; John C Achermann; Dagmar Struve
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.
The Journal of clinical endocrinology and metabolism 2005;90(1):538-41.
2004: Olaf Hiort
Intersex - from gene to gender. Lubeck, Germany, 1-3 April 2004.
Pediatric endocrinology reviews : PER 2004;2(1):50-2.
2004: Olaf Hiort
[Intersexual children. Who decides on their sex?].
MMW Fortschritte der Medizin 2004;146(20):18.
2004: A Krause; G H G Sinnecker; Olaf Hiort; B Thamm; Wolfgang Hoepffner
Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2004;112(5):236-40.
2004: Antje Tria; Olaf Hiort; G H G Sinnecker
Steroid 5alpha-reductase 1 polymorphisms and testosterone/dihydrotestosterone ratio in male patients with hypospadias.
Hormone research 2004;61(4):180-3.
2003: Silvano Bertelloni; Maria Cristina Maggio; S Geraci; Serena Navari; Giovanni Corsello; Olaf Hiort
[17 beta hydroxysteroid dehydrogenase deficiency. Clinical, endocrinological and molecular features].
Minerva pediatrica 2003;55(5 Suppl 1):69-71.
2003: Olaf Hiort
[Ambiguous genitalia and molecular biology: a clinical perspective].
Minerva pediatrica 2003;55(5 Suppl 1):32-5.
2003: Snjezana M Schütt; Marius Schumacher; Paul-Martin Holterhus; Stefanie Felgenhauer; Olaf Hiort
Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency.
European journal of endocrinology / European Federation of Endocrine Societies 2003;149(4):317-21.
2003: Joachim Pohlenz; Wiebke Ahrens; Olaf Hiort
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy.
European journal of endocrinology / European Federation of Endocrine Societies 2003;148(4):463-8.
2003: Olaf Hiort; Sandra Reinecke; Ute Thyen; Martina Jürgensen; Paul-Martin Holterhus; Daniela Schön; Hertha Richter-Appelt
Puberty in disorders of somatosexual differentiation.
Journal of pediatric endocrinology & metabolism : JPEM 2003;16 Suppl 2():297-306.
2003: Dóra Scheiber; Csaba Barta; Zita Halász; Ágnes Sallai; Károly Rácz; László Ságodi; György Fekete; Olaf Hiort; János Sólyom
Mutational analysis of Hungarian patients with androgen insensitivity syndrome.
Journal of pediatric endocrinology & metabolism : JPEM 2003;16(3):367-73.
2003: Assimina Galli-Tsinopoulou; Olaf Hiort; Tobias Schuster; Gerald Messer; Ursula Kuhnle
A novel point mutation in the hormone binding domain of the androgen receptor associated with partial and minimal androgen insensitivity syndrome.
Journal of pediatric endocrinology & metabolism : JPEM 2003;16(2):149-54.
2003: Olaf Hiort; Paul-Martin Holterhus
Androgen insensitivity and male infertility.
International journal of andrology 2003;26(1):16-20.
2003: Paul-Martin Holterhus; Olaf Hiort; Janos Demeter; Patrick O Brown; James D Brooks
Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor.
Genome biology 2003;4(6):R37.
2002: Paul-Martin Holterhus; S Piefke; Olaf Hiort
Anabolic steroids, testosterone-precursors and virilizing androgens induce distinct activation profiles of androgen responsive promoter constructs.
The Journal of steroid biochemistry and molecular biology 2002;82(4-5):269-75.
2002: W Twesten; R Johannisson; Paul-Martin Holterhus; Olaf Hiort
[Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].
Klinische Pädiatrie 2002;214(5):314-5.
2002: Olaf Hiort
Androgens and puberty.
Best practice & research. Clinical endocrinology & metabolism 2002;16(1):31-41.
2002: Olaf Hiort; Snjezana M Schütt; Monika Bals-Pratsch; Paul-Martin Holterhus; Christine Marschke; Dagmar Struve
A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency.
International journal of andrology 2002;25(1):55-8.
2001: Paul-Martin Holterhus; Hennie T Brüggenwirth; Albert O Brinkmann; Olaf Hiort
Post-zygotic mutations and somatic mosaicism in androgen insensitivity syndrome.
Trends in genetics : TIG 2001;17(11):627-8.
2001: Wiebke Ahrens; Olaf Hiort; P Staedt; T Kirschner; Christine Marschke; K Kruse
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
The Journal of clinical endocrinology and metabolism 2001;86(10):4630-4.
2001: OJ Hellwinkel; Paul-Martin Holterhus; Dagmar Struve; Christine Marschke; N Homburg; Olaf Hiort
A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants.
The Journal of clinical endocrinology and metabolism 2001;86(6):2569-75.
2000: OJ Hellwinkel; J Bassler; Olaf Hiort
Transcription of androgen receptor and 5alpha-reductase II in genital fibroblasts from patients with androgen insensitivity syndrome.
The Journal of steroid biochemistry and molecular biology 2000;75(4-5):213-8.
2000: Paul-Martin Holterhus; G H G Sinnecker; Olaf Hiort
Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity.
The Journal of clinical endocrinology and metabolism 2000;85(9):3245-50.
2000: Olaf Hiort; Paul-Martin Holterhus; T Horter; W Schulze; B Kremke; Monika Bals-Pratsch; G H G Sinnecker; K Kruse
Significance of mutations in the androgen receptor gene in males with idiopathic infertility.
The Journal of clinical endocrinology and metabolism 2000;85(8):2810-5.
2000: OJ Hellwinkel; A Müller; Dagmar Struve; Olaf Hiort
Influence of androgens and age on androgen receptor and 5 alpha-reductase II transcription.
European journal of endocrinology / European Federation of Endocrine Societies 2000;143(2):217-25.
2000: Olaf Hiort; Paul-Martin Holterhus
The molecular basis of male sexual differentiation.
European journal of endocrinology / European Federation of Endocrine Societies 2000;142(2):101-10.
2000: EM Nitsche; Olaf Hiort
The molecular basis of androgen insensitivity.
Hormone research 2000;54(5-6):327-33.
2000: W Twesten; Paul-Martin Holterhus; Wolfgang G Sippell; Michel Morlot; H Schumacher; B Schenk; Olaf Hiort
Clinical, endocrine, and molecular genetic findings in patients with 17beta-hydroxysteroid dehydrogenase deficiency.
Hormone research 2000;53(1):26-31.
2000: Olaf Hiort
Neonatal endocrinology of abnormal male sexual differentiation: molecular aspects.
Hormone research 2000;53 Suppl 1():38-41.
2000: K Kubini; M Zachmann; Norbert Albers; Olaf Hiort; Markus Bettendorf; J Wölfle; Frank Bidlingmaier; Dietrich Klingmüller
Basal inhibin B and the testosterone response to human chorionic gonadotropin correlate in prepubertal boys.
The Journal of clinical endocrinology and metabolism 2000;85(1):134-8.
1999: Paul-Martin Holterhus; J Wiebel; G H G Sinnecker; Hennie T Brüggenwirth; Wolfgang G Sippell; Albert O Brinkmann; K Kruse; Olaf Hiort
Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome.
Pediatric research 1999;46(6):684-90.
1999: Paul-Martin Holterhus; G H G Sinnecker; H A Wollmann; Dagmar Struve; N Homburg; K Kruse; Olaf Hiort
Expression of two functionally different androgen receptors in a patient with androgen insensitivity.
European journal of pediatrics 1999;158(9):702-6.
1999: Eckhard Korsch; Michael Peter; Olaf Hiort; Wolfgang G Sippell; B M Ure; B P Hauffa; M Bergmann
Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism 1999;84(5):1628-32.
1999: OJ Hellwinkel; K Bull; Paul-Martin Holterhus; N Homburg; Dagmar Struve; Olaf Hiort
Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lacking transcript with premature stop-codon and reduced expression.
The Journal of steroid biochemistry and molecular biology 1999;68(1-2):1-9.
1998: Olaf Hiort; G H G Sinnecker; Paul-Martin Holterhus; EM Nitsche; K Kruse
Inherited and de novo androgen receptor gene mutations: investigation of single-case families.
The Journal of pediatrics 1998;132(6):939-43.
1998: Olaf Hiort; Paul-Martin Holterhus; EM Nitsche
Physiology and pathophysiology of androgen action.
Baillière's clinical endocrinology and metabolism 1998;12(1):115-32.
1998: U Walden; R Rauch; Olaf Hiort; G H G Sinnecker; H G Dörr
Diagnosis of 5alpha-reductase deficiency in a teenage Turkish girl.
Journal of pediatric and adolescent gynecology 1998;11(1):39-42.
1997: Paul-Martin Holterhus; Hennie T Brüggenwirth; Olaf Hiort; A Kleinkauf-Houcken; K Kruse; G H G Sinnecker; Albert O Brinkmann
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome.
The Journal of clinical endocrinology and metabolism 1997;82(11):3584-9.
1997: Norbert Albers; C Ulrichs; Sylvia Glüer; Olaf Hiort; G H G Sinnecker; Hermann Mildenberger; J Brodehl
Etiologic classification of severe hypospadias: implications for prognosis and management.
The Journal of pediatrics 1997;131(3):386-92.
1997: G H G Sinnecker; Olaf Hiort; EM Nitsche; Paul-Martin Holterhus; K Kruse
Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group.
European journal of pediatrics 1997;156(1):7-14.
1996: Olaf Hiort; G H G Sinnecker; H Willenbring; A Lehners; A Zöllner; Dagmar Struve
Nonisotopic single strand conformation analysis of the 5 alpha-reductase type 2 gene for the diagnosis of 5 alpha-reductase deficiency.
The Journal of clinical endocrinology and metabolism 1996;81(9):3415-8.
1996: Olaf Hiort; S P Naber; A Lehners; S Muletta-Feurer; G H G Sinnecker; A Zöllner; Paul Komminoth
The role of androgen receptor gene mutations in male breast carcinoma.
The Journal of clinical endocrinology and metabolism 1996;81(9):3404-7.
1996: Olaf Hiort; H Willenbring; Norbert Albers; W Hecker; J Engert; Leif Dibbelt; G H G Sinnecker
Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5 alpha-reductase deficiency.
European journal of pediatrics 1996;155(6):445-51.
1996: G H G Sinnecker; Olaf Hiort; Leif Dibbelt; Norbert Albers; Helmuth G Dörr; H Hauss; U Heinrich; M Hemminghaus; Wolfgang Hoepffner; M Holder; D Schnabel; K Kruse
Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency.
American journal of medical genetics 1996;63(1):223-30.
1996: Olaf Hiort; G H G Sinnecker; Paul-Martin Holterhus; EM Nitsche; K Kruse
The clinical and molecular spectrum of androgen insensitivity syndromes.
American journal of medical genetics 1996;63(1):218-22.
1995: Paul Komminoth; E K Kunz; Xavier Matias-Guiu; Olaf Hiort; G Christiansen; A Colomer; Jürgen Roth; Philipp U Heitz
Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas.
Cancer 1995;76(3):479-89.
1994: Paul Komminoth; E Kunz; Olaf Hiort; S Schröder; Xavier Matias-Guiu; G Christiansen; Jürgen Roth; Philipp U Heitz
Detection of RET proto-oncogene point mutations in paraffin-embedded pheochromocytoma specimens by nonradioactive single-strand conformation polymorphism analysis and direct sequencing.
The American journal of pathology 1994;145(4):922-9.
1994: Olaf Hiort; A Wodtke; Dagmar Struve; A Zöllner; G H G Sinnecker
Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. German Collaborative Intersex Study Group.
Human molecular genetics 1994;3(7):1163-6.
1994: Olaf Hiort; G Klauber; Marc Cendron; G H G Sinnecker; L Keim; Eberhard Schwinger; H J Wolfe; D W Yandell
Molecular characterization of the androgen receptor gene in boys with hypospadias.
European journal of pediatrics 1994;153(5):317-21.
1994: Olaf Hiort; A Wodtke; Dagmar Struve; G H G Sinnecker
[Non-radioactive SSCP for the detection of androgen receptor gene mutation--a diagnostic tool for androgen resistance].
Verhandlungen der Deutschen Gesellschaft für Pathologie 1994;78():200-3.
1993: Olaf Hiort; Q Huang; G H G Sinnecker; A Sadeghi-Nejad; K Kruse; H J Wolfe; D W Yandell
Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.
The Journal of clinical endocrinology and metabolism 1993;77(1):262-6.
1991: Olaf Hiort; Andreas Artlich; W Wiebicke
[A 13-year-old boy with a mild form of cystic fibrosis and heterozygote gene mutation for Delta F508].
Pneumologie (Stuttgart, Germany) 1991;45(11):910-2.