Publications by authors named "Olaf Hiort"

100Publications

An overview of clinical activities in Endo-ERN: the need for alignment of future network criteria.

Eur J Endocrinol 2020 Aug;183(2):141-148

Department of Medicine, Division of Endocrinology and Centre for Endocrine Tumors Leiden (CETL), Leiden University Medical Centre, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-20-0197DOI Listing
August 2020

Assessing the benefits and challenges of video consultations for the treatment of children with type 1 diabetes - A qualitative study among diabetes professionals.

Exp Clin Endocrinol Diabetes 2020 May 7. Epub 2020 May 7.

Division of Paediatric Endocrinology and Diabetology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/a-1149-8814DOI Listing
May 2020

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet.

Eur J Endocrinol 2019 Nov;181(5):545-564

Department of Paediatric Endocrinology, Ghent University Hospital, Department of Internal Medicine and Paediatrics, University of Ghent, Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-19-0363DOI Listing
November 2019

Addressing gaps in care of people with conditions affecting sex development and maturation.

Nat Rev Endocrinol 2019 10 12;15(10):615-622. Epub 2019 Aug 12.

Growth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41574-019-0238-yDOI Listing
October 2019

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.

J Endocr Soc 2019 Jul 20;3(7):1383-1389. Epub 2019 May 20.

Pediatric Endocrinology and Diabetology, Children's Hospital, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/js.2019-00073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608559PMC
July 2019

Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism.

J Clin Endocrinol Metab 2019 10;104(10):4630-4638

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2019-00108DOI Listing
October 2019

[The creation of a data protection policy: a guide to telemedicine healthcare projects].

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2019 Apr;62(4):479-485

Klinik für Kinder- und Jugendmedizin, Sektion für Pädiatrische Endokrinologie und Diabetologie, Campus Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Deutschland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00103-019-02918-wDOI Listing
April 2019

In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

Hum Mutat 2018 12 22;39(12):2097-2109. Epub 2018 Oct 22.

Department of Paediatric and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Luebeck, Luebeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23664DOI Listing
December 2018

Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial.

Lancet Diabetes Endocrinol 2018 10 31;6(10):771-780. Epub 2018 Jul 31.

Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S2213-8587(18)30197-9DOI Listing
October 2018

Endoscopy and Laparoscopy in Disorders of Sex Development.

Sex Dev 2018 8;12(1-3):100-105. Epub 2018 Feb 8.

Department of Paediatric Surgery, University of Lübeck, UKSH, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000486871DOI Listing
November 2018

Concluding Remarks - From Bench to Bed.

Authors:
Olaf Hiort

Sex Dev 2018 7;12(1-3):155-157. Epub 2018 Feb 7.

Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/486880
Publisher Site
http://dx.doi.org/10.1159/000486880DOI Listing
November 2018

Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets.

Pediatr Nephrol 2018 03 20;33(3):447-456. Epub 2017 Oct 20.

Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-017-3820-3DOI Listing
March 2018

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.

Hum Mutat 2018 01 8;39(1):114-123. Epub 2017 Nov 8.

Department of Paediatric and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, Center of Brain, Behavior and Metabolism, University of Luebeck, Luebeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23353DOI Listing
January 2018

Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?

Sex Dev 2017 19;11(4):171-174. Epub 2017 Jul 19.

Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000478082DOI Listing
May 2018

[Health Related Quality of Life, Self-Esteem and Health Behaviour on Average 6 Years after an Obesity Outpatient Lifestyle Program].

Klin Padiatr 2017 Jul 17;229(4):216-222. Epub 2017 Jul 17.

Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Schleswig-Holstein, Lübeck.

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-106853
Publisher Site
http://dx.doi.org/10.1055/s-0043-106853DOI Listing
July 2017

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

PLoS One 2017 1;12(5):e0176720. Epub 2017 May 1.

Department of Paediatrics and Adolescent Medicine, Division of Experimental Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0176720PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411087PMC
September 2017

Pubertal Development in
17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency
.

Horm Res Paediatr 2017 12;87(5):354-358. Epub 2016 Dec 12.

Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000453613DOI Listing
March 2018

Current models of care for disorders of sex development - results from an International survey of specialist centres.

Orphanet J Rare Dis 2016 11 21;11(1):155. Epub 2016 Nov 21.

Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Zone 1, Office Block, RHC & QEUH Campus, 1345 Govan Road, Glasgow, G51 4TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-016-0534-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117601PMC
November 2016

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.

J Clin Res Pediatr Endocrinol 2017 Mar 18;9(1):74-79. Epub 2016 Jul 18.

İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Genetics, İstanbul, Turkey Phone: +90 212 4143192 E-mail:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4274/jcrpe.3191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363169PMC
March 2017

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.

Eur J Endocrinol 2016 Dec 11;175(6):P1-P17. Epub 2016 Jul 11.

APHPReference Center for rare disorders of the Calcium and Phosphate Metabolism, filière OSCAR and Plateforme d'Expertise Maladies Rares Paris-Sud, Hôpital Bicêtre Paris Sud, Le Kremlin Bicêtre, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-16-0107DOI Listing
December 2016

Response to the Council of Europe Human Rights Commissioner's Issue Paper on Human Rights and Intersex People.

Eur Urol 2016 09 6;70(3):407-9. Epub 2016 Jun 6.

Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eururo.2016.05.015DOI Listing
September 2016

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.

J Clin Res Pediatr Endocrinol 2015 Sep;7(3):249-52

Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Ankara, Turkey Phone: +90 312 305 11 24 E-mail:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4274/jcrpe.2069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677563PMC
September 2015

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.

Sex Dev 2015 18;9(5):260-8. Epub 2015 Dec 18.

Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lx00FC;beck, Lx00FC;beck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000442309DOI Listing
September 2016

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.

Sex Dev 2015 3;9(3):136-43. Epub 2015 Jun 3.

Division of Pediatric Surgery, Department of Surgery, University of Ulm, Ulm, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000430897DOI Listing
July 2016

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

J Clin Endocrinol Metab 2015 Jul 30;100(7):E1022-9. Epub 2015 Apr 30.

Department of Paediatric and Adolescent Medicine, and Division of Experimental Paediatric Endocrinology and Diabetes (R.W., W.B., L.M., O.H.), Departments of Pathology (H.M.), Gynecology (T.S.), Neurology and Institute of Neurogenetics (P.C.), and Paediatric and Adult Movement Disorders and Neuropsychiatry and Institute of Neurogenetics (T.B.), Institute of Integrative and Experimental Genomics (B.R.), University of Luebeck, 23538 Luebeck, Germany; and Department of Biophysics and Biophysical Chemistry (J.M.K.), Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2015-1314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490300PMC
July 2015

Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.

Sex Dev 2015 20;9(2):69-74. Epub 2015 Jan 20.

Division of Experimental Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000371464DOI Listing
February 2016

Preserved fertility in a patient with gynecomastia associated with the p.Pro695Ser mutation in the androgen receptor.

Sex Dev 2014 15;8(6):350-5. Epub 2014 Nov 15.

Centro de Biologia Molecular e Engenharia Genética (CBMEG), Universidade Estadual de Campinas, Campinas, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000368862DOI Listing
September 2015

Changes over time in sex assignment for disorders of sex development.

Pediatrics 2014 Sep 4;134(3):e710-5. Epub 2014 Aug 4.

Pediatric Endocrinology and Diabetes Unit, Dana Children's Hospital, Tel Aviv, Israel; Sourasky Medical Center, Tel Aviv, Israel; and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2014-1088DOI Listing
September 2014

Utilization of health care services and satisfaction with care in adults affected by disorders of sex development (DSD).

J Gen Intern Med 2014 Aug;29 Suppl 3:S752-9

Hospital for Children and Adolescents, University Lübeck, Lübeck, Germany,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11606-014-2917-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124114PMC
August 2014

Management of disorders of sex development.

Nat Rev Endocrinol 2014 Sep 15;10(9):520-9. Epub 2014 Jul 15.

Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, Christian-Albrechts-University, Schwanenweg 20, 24105 Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrendo.2014.108DOI Listing
September 2014

46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene.

Sex Dev 2014 12;8(4):151-5. Epub 2014 Jun 12.

Al-Neelain Medical Research Centre, Faculty of Medicine, Al-Neelain University, Khartoum, Sudan.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/363201
Publisher Site
http://dx.doi.org/10.1159/000363201DOI Listing
April 2015

Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders.

J Clin Endocrinol Metab 2014 Aug 30;99(8):E1564-70. Epub 2014 May 30.

Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lübeck, 23538 Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-4477DOI Listing
August 2014

Long-term management of patients with disorders of sex development (DSD).

Authors:
Olaf Hiort

Ann Endocrinol (Paris) 2014 May 17;75(2):64-6. Epub 2014 Apr 17.

Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Luebeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ando.2014.03.008DOI Listing
May 2014

Health-related quality of life in children with disorders of sex development (DSD).

Eur J Pediatr 2014 Jul 28;173(7):893-903. Epub 2014 Jan 28.

Institute of Social Medicine and Epidemiology, University of Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-014-2264-zDOI Listing
July 2014

Novel associations in disorders of sex development: findings from the I-DSD Registry.

J Clin Endocrinol Metab 2014 Feb 3;99(2):E348-55. Epub 2013 Dec 3.

University of Glasgow (K.C., J.B., J.J., M.R., R.S., S.F.A.), Child Health, School of Medicine, Royal Hospital for Sick Children, Yorkhill, and National eScience Centre, Glasgow G3 8SJ, United Kingdom; University of Melbourne (R.S.), eResearch, Melbourne, Parkville VIC 3010, Australia; Al-Amiri Hospital (M.A.), Paediatric Department, MOH, Safat 13015, Kuwait; University of Birmingham (W.A., N.K.), Centre for Endocrinology, Diabetes and Metabolism, School of Clinical & Experimental Medicine, Birmingham B15 2TT, United Kingdom; Vall d'Hebron Research Institute (L.A.) and CIBERER, Barcelona, 08035 Spain; University of Bologna (A.B.), Department of Gynecologic, Obstetric and Pediatric Sciences, Operative Unit Pediatrics, 40138, Bologna, Italy; University Hospital Pisa (S.B.), Servizio di Medicina dell'Adolescenza - UO Pediatria, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy; University Hospital Ghent & University of Ghent (M.C.), Department of Pediatric and Adolescent Endocrinology and Diabetology, 185-9000 Gent, Belgium; Istanbul University (F.D.), Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, 34452 İstanbul, Turkey; Sophia Children's Hospital/Erasmus MC (S.D.), Division of Pediatric Endocrinology, Department of Pediatrics, Rotterdam, The Netherlands; Al-Neelain Medical Research Centre (M.E.), Faculty of Medicine and Health Sciences, Al-Neelain University and Biotechnology Lab, Ahfad University for Women, 00249 Khartoum, Sudan; Marmara University Hospital (T.G.), Istanbul, Pediatric Endocrinology and Diabetes, Fevzi Cakmak Mh. 34899 Ustkaynarca/Pendik-Istanbul-Turkey; University of Lübeck (O.H.), Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, 23560 Lübeck, Germany; University Hospital of Schleswig Holstein (P.-M. H.), Department of General Pediatrics, University of Kiel, 24105 Kiel, Germany; University of Cambridge (I.H.), Department of Paediatri

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-2918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955252PMC
February 2014

The differential role of androgens in early human sex development.

Authors:
Olaf Hiort

BMC Med 2013 Jun 24;11:152. Epub 2013 Jun 24.

Division of Experimental Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1741-7015-11-152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706224PMC
June 2013

Clinical and molecular aspects of androgen insensitivity.

Authors:
Olaf Hiort

Endocr Dev 2013 1;24:33-40. Epub 2013 Feb 1.

Division of Experimental Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Universität zu Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/342499
Publisher Site
http://dx.doi.org/10.1159/000342499DOI Listing
August 2013

Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development.

J Pediatr Urol 2012 Dec 9;8(6):624-8. Epub 2012 Oct 9.

Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpurol.2012.09.004DOI Listing
December 2012

Androgen insensitivity syndrome.

Semin Reprod Med 2012 Oct 8;30(5):432-42. Epub 2012 Oct 8.

Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0032-1324728DOI Listing
October 2012

Disorders of sex development and hypogonadism: genetics, mechanism, and therapies.

Int J Endocrinol 2012 19;2012:820373. Epub 2012 Jul 19.

Pediatric Endocrinology Unit, Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2012/820373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408659PMC
August 2012

17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.

J Pediatr Endocrinol Metab 2012 ;25(5-6):561-3

Hacettepe University Faculty of Medicine, Division of Pediatric Endocrinology, Ankara, 06100 Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2012-0009DOI Listing
September 2012

46,XY karyotype in a female phenotype fetus: a challenging diagnosis.

J Pediatr Adolesc Gynecol 2012 Jun;25(3):e77-9

Department of Pediatrics, Endocrine Unit, Scientific Institute San Raffaele, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpag.2012.03.001DOI Listing
June 2012

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.

Eur J Endocrinol 2012 Jul 9;167(1):119-24. Epub 2012 May 9.

Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Vesaliusweg 12-14, D-48149 Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-12-0136DOI Listing
July 2012

Psychosexual development in adolescents and adults with disorders of sex development--results from the German Clinical Evaluation Study.

J Sex Med 2013 Nov 30;10(11):2703-14. Epub 2012 Apr 30.

Institute for Social Medicine, University Lübeck, Germany Department for Paediatric and Adolescent Medicine, University Lübeck, Germany Institute for Biometry and Medical Informatics, University Otto-von-Guericke, Magdeburg, Germany Gender Clinic, VU University Medical Centre, Amsterdam, The Netherlands Department of Paediatric Endocrinology, University Children's Hospital, Charité, Humboldt University, Berlin.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1743-6109.2012.02751.xDOI Listing
November 2013

Patients with disorders of sex development (DSD) at risk of gonadal tumour development: management based on laparoscopic biopsy and molecular diagnosis.

BJU Int 2012 Dec 30;110(11 Pt C):E958-65. Epub 2012 Apr 30.

Department of Paediatric Surgery, University of Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1464-410X.2012.11181.xDOI Listing
December 2012

RWDD1 interacts with the ligand binding domain of the androgen receptor and acts as a coactivator of androgen-dependent transactivation.

Mol Cell Endocrinol 2012 Jul 2;358(1):53-62. Epub 2012 Mar 2.

Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mce.2012.02.020DOI Listing
July 2012

Hormonal management of complete androgen insensitivity syndrome from adolescence onward.

Horm Res Paediatr 2011 29;76(6):428-33. Epub 2011 Nov 29.

Adolescent Medicine, Department of Obstetrics, Gynecology and Pediatrics, Santa Chiara University Hospital, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000334162DOI Listing
April 2012

Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study.

J Clin Endocrinol Metab 2012 Feb 16;97(2):577-88. Epub 2011 Nov 16.

Department of Pediatric Endocrinology, University Children's Hospital, Charité, Humboldt University , 13353 Berlin, Germany.

View Article

Download full-text PDF

Source
http://www.aissg.org/PDFs/Kohler-Sex-Life-XYDSD-2012.pdf
Web Search
http://dx.doi.org/10.1210/jc.2011-1441DOI Listing
February 2012

Diagnostic pathways in disorders of sex development.

Authors:
Olaf Hiort

Clin Biochem 2011 May;44(7):509

Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Germany. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00099120110012
Publisher Site
http://dx.doi.org/10.1016/j.clinbiochem.2011.02.028DOI Listing
May 2011

A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.

J Pediatr Endocrinol Metab 2011 ;24(5-6):297-301

Children's Hospital of the Johannes Gutenberg-University, Mainz, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem.2011.172DOI Listing
August 2011

Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.

J Bone Miner Res 2011 Nov;26(11):2710-8

Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.484DOI Listing
November 2011

Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5.

J Clin Res Pediatr Endocrinol 2010 7;2(2):85-8. Epub 2010 May 7.

Ankara University School of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://cms.galenos.com.tr/Uploads/Article_59/JCRPE-2-85-En.p
Publisher Site
http://dx.doi.org/10.4274/jcrpe.v2i2.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005667PMC
February 2012

Disorders of sex development (DSD). Preface.

Sex Dev 2010 Sep;4(4-5):191

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000315960DOI Listing
September 2010

46,XY disorders of sex development--the undermasculinised male with disorders of androgen action.

Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):263-77

Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.beem.2009.11.002DOI Listing
April 2010

Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD.

Horm Res Paediatr 2010 16;74(1):67-71. Epub 2010 Apr 16.

Department of Pediatrics and Adolescents Medicine, University Hospital Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000313372DOI Listing
November 2010

Deletion and point mutations of PTHLH cause brachydactyly type E.

Am J Hum Genet 2010 Mar 18;86(3):434-9. Epub 2010 Feb 18.

Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2010.01.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2833367PMC
March 2010

Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation.

J Pediatr Endocrinol Metab 2009 Feb;22(2):107-8

Department of Pediatrics, Faculty of Medicine, Pamukkale University, Denizli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem.2009.22.2.107DOI Listing
February 2009

Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome.

J Mol Med (Berl) 2009 Jun 30;87(6):623-32. Epub 2009 Mar 30.

Department of Pediatrics, University-Hospital Schleswig-Holstein, Christian Albrechts University of Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00109-009-0462-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518750PMC
June 2009

First diagnosis of Martin-Albright syndrome in a 58-year-old patient.

J Dtsch Dermatol Ges 2009 Jan;7(1):43-5

Department of Dermatology and Venereology, Otto-von-Guericke University of Magdeburg, Magdeburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1610-0387.2008.06862.xDOI Listing
January 2009

Association of parvovirus B19 infection and Hashimoto's thyroiditis in children.

Viral Immunol 2008 Sep;21(3):379-83

Department of Pediatrics, University of Giessen, Giessen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/vim.2008.0001DOI Listing
September 2008

Three out of four: a case discussion on ambiguous genitalia.

Eur J Endocrinol 2008 Dec 5;159 Suppl 1:S91-3. Epub 2008 Sep 5.

Department of Paediatrics, Hieronymus Bosch Medical Centre, Location GZG, PO Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands.

View Article

Download full-text PDF

Source
https://eje.bioscientifica.com/view/journals/eje/159/suppl_1
Publisher Site
http://dx.doi.org/10.1530/EJE-08-0412DOI Listing
December 2008

PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib.

Clin Chem 2008 Sep 10;54(9):1537-45. Epub 2008 Jul 10.

Austrian Research Centers GmbH-ARC, Molecular Diagnostics, Seibersdorf, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2008.104216DOI Listing
September 2008

The First Egyptian-German workshop on disorders of sex development (DSD) National Research Centre, Cairo, Egypt, 24-25 November 2007.

Pediatr Endocrinol Rev 2008 Jun;5(4):922-3

National Research Center, Cariro, Egypt.

View Article

Download full-text PDF

Source
June 2008

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.

Eur J Pediatr 2009 Mar 12;168(3):359-61. Epub 2008 Jun 12.

Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University of Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00431-008-0757-3
Publisher Site
http://dx.doi.org/10.1007/s00431-008-0757-3DOI Listing
March 2009

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.

J Clin Endocrinol Metab 2008 Jul 29;93(7):2891-5. Epub 2008 Apr 29.

Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig-Holstein, Schwanenweg 20, Kiel, Germany.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2007-2646DOI Listing
July 2008

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).

Authors:
Olaf Hiort

Horm Res 2008 21;69(4):251-2. Epub 2008 Jan 21.

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lubeck, Lubeck, Germany.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/113026
Publisher Site
http://dx.doi.org/10.1159/000113026DOI Listing
May 2008

Long-term follow-up of bone mineral density in childhood hypophosphatasia.

Joint Bone Spine 2007 May 15;74(3):263-9. Epub 2007 Mar 15.

Children's Hospital, Section of pediatric rheumatology and osteology, Universitäts-Kinderklinik, University of Würzburg, Josef-Schneider-Strasse 2, Würzburg 97080, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbspin.2006.06.017DOI Listing
May 2007

Classification of distinct baseline insulin infusion patterns in children and adolescents with type 1 diabetes on continuous subcutaneous insulin infusion therapy.

Diabetes Care 2007 Mar;30(3):568-73

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-Universität zu Kiel, Universitätsklinikum Schleswig-Holstein (Campus Kiel), Kiel, Germany.

View Article

Download full-text PDF

Source
http://care.diabetesjournals.org/cgi/doi/10.2337/dc06-2105
Publisher Site
http://dx.doi.org/10.2337/dc06-2105DOI Listing
March 2007