Experimental Paediatric Endocrinology and Diabetes

Department of Paediatrics

Group Members

Olaf Hiort (Group leader)
Ralf Werner (Group leader)
Wiebke Birnbaum (Medical Doctor)
Susanne Thiele-Schmitz (Medical Doctor)
Louise Marshall (Psychologist)
Susanne Flieger (PhD student)
Dagmar Struve (Technician)
Pia Staedt (Technician) 

Research Interests

We are part of the Lübeck Centre for Rare Diseases (http://www.uksh.de/zse-luebeck/) and the UKSH Endocrine Centre North (http://www.uksh.de/hormonzentrum-nord). Our scientific interest focusses on translational research of patients with rare conditions regarding Differences of Sex Development (DSD) and rare mineralization disorders. We apply Sanger sequencing, next generation sequencing technology and pyrosequencing for detection of new or rare genetic and epigenetic variations in close cooperation with the Institute of Human Genetics and the Institute of Integrative and Experimental Genetics (IIEG) at the University of Lübeck. A broad spectrum of molecular biology methodology is used for proof of variant pathogenicity to explain genotype-phenotype correlations and to provide a basis for clinical decision making in our multidisciplinary team. For highly specific patient care, we are developing structures for patients with complex rare conditions and aim to act at the interface of translational management on a national and international basis. To achieve this, we are part of several European network approaches for rare diseases (http://www.dsdnet.eu/, http://www.imprinting-disorders.eu/) and participate in several worldwide PhD student exchange programs. 

Collaborations

  • Kenneth McElreavey, Human Developmental Genetics, Institute Pasteur, Paris, France
  • Harald Jüppner, Massachusetts General Hospital and Harvard Medical School, USA
  • Agnes Linglart, INSERM U986, Service d'Endocrinologie Pédiatrique, Hôpital Bicêtre Université Paris Sud, France
  • Maricilda Palandi de Mello, Centro de Biologia Molecular e Engenharia Genética (CBMEG), Universidade Estadual de Campinas (UNICAMP), Brazil
  • Faisal Ahmed, School of Medicine, University of Glasgow, Royal Hospital for Sick Children, UK

Publications

  1. Werner R, Merz H, Birnbaum W, Marshall L, Schröder T, Reiz B, Kavran JM, Bäumer T, Capetian P, Hiort O. 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. J Clin Endocrinol Metab. 2015 Jul;100(7):E1022-9. doi: 10.1210/jc.2015-1314. Epub 2015 Apr 30. PubMed PMID: 25927242
  2. Werner R, Mönig I, August J, Freiberg C, Lünstedt R, Reiz B, Wünsch L, Holterhus PM, Kulle A, Döhnert U, Wudy SA, Richter-Unruh A, Thorns C, Hiort O. Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation. Sex Dev. 2015 Dec 18. [Epub ahead of print] PubMed PMID: 26681172.
  3. Doehnert U, Bertelloni S, Werner R, Dati E, Hiort O. Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. Sex Dev. 2015;9(2):69-74. doi: 10.1159/000371464. Epub 2015 Jan 20. Erratum in: Sex Dev. 2015;9(2). doi:10.1159/000371464. PubMed PMID: 25613104.
  4. Hiort O, Birnbaum W, Marshall L, Wünsch L, Werner R, Schröder T, Döhnert U, Holterhus PM. Management of disorders of sex development. Nature Rev Endocrinol 2014 Sep;10(9):520-9. PubMed PMID: 25022812
  5. Brix B, Werner R, Staedt P, Struve D, Hiort O, Thiele S. 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 99(8):E1564-70. PubMed PMID: 24878042