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Genomes and Genes | Olaf HiortSummaryCountry: Germany Publications
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Publications
The approach to a neonate with a possible prenatal diagnosis of androgen insensitivity syndromeArieh Riskin
Department of Neonatology, Bnai Zion Medical Center, B Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel
J Pediatr Endocrinol Metab 19:1437-43. 2006..Full multidisciplinary diagnostic work-up immediately after delivery, as well as awareness of possible prenatal diagnosis, is the responsibility of the primary care provider for the newborn with suspected AIS...
Disorders of sex development in developmental syndromesOlaf Hiorta
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Lubeck, Germany
Endocr Dev 14:174-80. 2009..The characterization of the underlying diagnosis will improve genetic counseling of the family including prognosis and recurrence risk...- Requirements for a multicentric multidisciplinary registry on patients with disorders of sex developmentOlaf Hiort
Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lubeck, Germany
J Pediatr Urol 8:624-8. 2012..A proposal for the additional information to be obtained is discussed... 
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasiaH J Girschick
Children s Hospital, University of Wurzburg, Germany
Orphanet J Rare Dis 1:24. 2006..There is a lack of knowledge as to how the variability and clinical severity of the HP phenotype (especially pain and walking impairment) are related to metabolic disturbances or impairments, subsequent to the molecular defect...- The basis of gender assignment in disorders of somatosexual differentiationOlaf Hiort
Clinical Research Group Intersex From Gene to Gender KFO 111, Department of Paediatrics, University of Lubeck, Lubeck, Germany
Horm Res 64:18-22. 2005..Premature decisions leading to irreversible interventions before an accurate diagnosis has been established must be avoided... - Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failureOlaf Hiort
Department of Pediatrics, Division of Pediatric Endocrinology, University Hospital Schleswig Holstein, Campus Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
J Clin Endocrinol Metab 90:538-41. 2005..The possibility of P450scc-independent pathways of steroid synthesis in addition to the current concept of luteoplacental shift of progesterone synthesis in humans has to be questioned... - [Ambiguous genitalia and molecular biology: a clinical perspective]O Hiort
, , , Germany
Minerva Pediatr 55:32-5. 2003 - 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)Olaf Hiort
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lubeck, Lubeck, Germany
Horm Res 69:251-2. 2008 - Puberty in disorders of somatosexual differentiationOlaf Hiort
Department of Pediatrics, University Hospital of Lübeck, Germany
J Pediatr Endocrinol Metab 16:297-306. 2003..In this review we focus not only on the molecular impact of sex steroid action, but also view current opinions and studies on the gender development of the intersex patient during puberty... - Androgen insensitivity and male infertilityO Hiort
Department of Pediatrics, University Hospital of Lübeck, Germany
Int J Androl 26:16-20. 2003..However, the molecular mechanisms that lead to inhibition of spermatogenesis because of a mutated androgen receptor are poorly understood and will need more focus in the future... - A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiencyOlaf Hiort
Department of Pediatrics, Medical University of Lubeck, Lubeck, Germany
Int J Androl 25:55-8. 2002..This case demonstrates that even despite a complete loss of function of 5alpha-reductase type 2, marked virilization is possible, most likely the result of a testosterone (T) effect during foetal life... 
Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytesPaul Martin Holterhus
Department of Pediatrics, Christian Albrechts University of Kiel, Germany
BMC Genomics 10:292. 2009..g., 46, XY-females due to defective androgen biosynthesis) compared to normal 46, XY-males and 46, XX-females...- A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiencySusanne Thiele
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Luebeck, Ratzeburger Allee 160, 23538 Luebeck, Germany
J Clin Endocrinol Metab 92:1764-8. 2007..Heterozygous inactivating maternally inherited mutations of GNAS lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia... - Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndromePaul Martin Holterhus
Department of Pediatrics, University Hospital Schleswig Holstein, Campus Kiel, Schwanenweg 20, Kiel, Germany
BMC Genomics 8:376. 2007.... - Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndromeMahesh Appari
Department of Pediatrics, University Hospital Schleswig Holstein, Christian Albrechts University of Kiel, Germany
J Mol Med (Berl) 87:623-32. 2009..Therefore, qRT-PCR of APOD messenger RNA transcription in primary cultures of labioscrotal skin fibroblasts is a promising tool for assessing AR function, potentially allowing a function-based diagnostic evaluation of AIS in the future... - 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 repeatsRalf Werner
Department of Pediatric and Adolescent Medicine, , Ratzeburger Allee 160, , Germany
J Clin Endocrinol Metab 91:3515-20. 2006..The whole recreation of AR sequence variations including individual polymorphic repeat sizes could unravel possible interference of mutations and variations on AR activity by in vitro transfection... - Cell-line and tissue-specific signatures of androgen receptor-coregulator transcriptionJan-Hendrik Bebermeier
Department of Pediatric and Adolescent Medicine, University Hospital Schleswig-Holstein, , , Germany
J Mol Med 84:919-31. 2006..Therefore, differential expression patterns of AR coregulators could modify tissue-specificity and diversity of androgen actions in development, physiology, and disease... - Deciding on gender in children with intersex conditions: considerations and controversiesUte Thyen
Department of Child and Adolescent Medicine, University Hospital Schleswig-Holstein, , , , Germany
Treat Endocrinol 4:1-8. 2005.... - 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 interactionFelix G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Schwanenweg 20, Kiel, Germany
J Clin Endocrinol Metab 93:2891-5. 2008..Congenital adrenal hyperplasia is caused by insufficient adrenal steroid biosynthesis due to impaired steroidogenic enzymes. The majority of patients suffer from deficiency of 21-hydroxylase (CYP21) coded by the CYP21A2 gene... - Gender role behavior in children with XY karyotype and disorders of sex developmentMartina Jürgensen
Department of Child and Adolescent Medicine, University Hospital Schleswig Holstein, Campus Lubeck, Ratzeburger Allee 160, D 23538 Lubeck, Germany
Horm Behav 51:443-53. 2007..We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions... - Patients with disorders of sex development (DSD) at risk of gonadal tumour development: management based on laparoscopic biopsy and molecular diagnosisLutz Wünsch
Department of Paediatric Surgery, University of Lubeck, Lubeck, Germany
BJU Int 110:E958-65. 2012..Biopsy, gonadopexy and precise localisation of the gonad will potentially allow for gonadal preservation in well-defined clinical situations... - Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5Senay Savas Erdeve
Ankara University School of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Ankara, Turkey
J Clin Res Pediatr Endocrinol 2:85-8. 2010..We believe that despite the genetic heterogeneity of AHO, phenotype/genotype correlations of this kind of rare mutations may help to understand progress of the disease... - "Any decision is better than none" decision-making about sex of rearing for siblings with 17beta-hydroxysteroid-dehydrogenase-3 deficiencyMartina Jürgensen
Department of Child and Adolescent Medicine, University Hospital Schleswig Holstein, Campus Lubeck, University of Lubeck, Lubeck, Germany
Arch Sex Behav 35:359-71. 2006..Both children appeared to show age-typical gender-related behavior and did not show any signs of physical or mental distress... - RWDD1 interacts with the ligand binding domain of the androgen receptor and acts as a coactivator of androgen-dependent transactivationHelga Grötsch
Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
Mol Cell Endocrinol 358:53-62. 2012..RWDD1 enhanced AR-dependent transactivation in reporter assays with promoters of different complexity and in different cell lines. These results suggest that RWDD1 functions as a coactivator of androgen-dependent transcription... - 46,XY disorders of sex development--the undermasculinised male with disorders of androgen actionRalf Werner
Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
Best Pract Res Clin Endocrinol Metab 24:263-77. 2010..Endocrine therapy in androgen-insensitivity syndrome is controversial, because till date the special hormonal profiles in androgen insensitivity have not been acknowledged in replacement strategies... - Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interactionSusanne Thiele
Department of Pediatrics and Adolescent Medicine, University of Lubeck, Germany
Hum Mutat 32:653-60. 2011..L388P disrupted both receptor-mediated activation and receptor-independent activation. We present a new subgroup of PHP that is caused by Gsα deficiency and selectively affects receptor coupling functions of Gsα... - Determination of Gs alpha protein activity in Albright's hereditary osteodystrophyWiebke Ahrens
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University-Hospital Schleswig-Holstein, , Germany
J Pediatr Endocrinol Metab 19:647-51. 2006..However, the mutation detection rate in GNAS is highly variable. The genetic heterogeneity of AHO needs further investigation... - 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 therapyVerena M Wagner
Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University of Lubeck, Lubeck, Germany
Eur J Pediatr 168:359-61. 2009..2 are the most frequent cause of diabetes in infancy. Sulfonylurea (SU) treatment restores insulin secretion in patients with KCNJ11 mutations... - 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 receptorPaul Martin Holterhus
Department of Urology, Stanford University School of Medicine, Stanford, CA 94305, USA
Genome Biol 4:R37. 2003.... - 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 retardationLoukas Argyriou
Institut fur Humangenetik, Lubeck, Germany
Clin Dysmorphol 19:190-4. 2010..The karyotype was described as 46,XY,der(9)t(9;15)(p23;q25.3). We discuss the clinical and molecular cytogenetic findings with respect to the literature... - Epidemiology and initial management of ambiguous genitalia at birth in GermanyUte Thyen
Department of Pediatrics, University Medical Centre Schleswig-Holstein, Campus Lubeck, Lubeck, Germany
Horm Res 66:195-203. 2006..National and international registries may help to provide a better understanding of the incidence and clinical course of such disorders... - Classification of distinct baseline insulin infusion patterns in children and adolescents with type 1 diabetes on continuous subcutaneous insulin infusion therapyPaul Martin Holterhus
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian Albrechts Universitat zu Kiel, Universitätsklinikum Schleswig Holstein Campus Kiel, Kiel, Germany
Diabetes Care 30:568-73. 2007..We aimed at classification of basal insulin infusion rate regimens and comparing patients' underlying clinical characteristics... - 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 malesSusanne Thiele
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lubeck, Lubeck, Germany
Eur J Endocrinol 152:875-80. 2005..We investigated whether 5RI is transcribed in normal male genital skin fibroblasts (GSFs) and if the transcription is regulated by age or by androgens themselves... - Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS geneFelix G Riepe
Department of Pediatrics, Division of Pediatric Endocrinology, , Campus Kiel, , Germany
Eur J Endocrinol 152:515-9. 2005..The possibility of AHO and PHP Ia should be considered in children with hypothyroidism and calcinosis cutis. Systematic reviews regarding the frequency of calcinosis in AHO are warranted... - Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiencySnjezana M Schütt
Department of Pediatrics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
Eur J Endocrinol 149:317-21. 2003..The conventional treatment of XLH includes the administration of phosphate and calcitriol; however, treated patients usually present with a short stature. Therefore, additional coexistent defects, such as GH deficiency, are under debate... - Androgens and pubertyOlaf Hiort
, , Ratzeburger Allee 160, , Germany
Best Pract Res Clin Endocrinol Metab 16:31-41. 2002..The control of their biosynthesis, their possible differential action on the molecular level, as well as the different target organs in males and females are discussed... - Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructsRalf Werner
Department of Pediatric and Adolescent Medicine, , Germany
J Steroid Biochem Mol Biol 101:1-10. 2006..Assessment of transactivation patterns in vitro may be an interesting concept to extend functional description of AR-gene mutations in AIS... - A novel point mutation in the hormone binding domain of the androgen receptor associated with partial and minimal androgen insensitivity syndromeAssimina Galli-Tsinopoulou
Children's Hospital, 4th Pediatric Department, Aristotles University, Thessaloniki, Greece
J Pediatr Endocrinol Metab 16:149-54. 2003..We conclude that phenotypic variations in mild AR defects are striking and can remain undetected even until late in life... - Mutational analysis of Hungarian patients with androgen insensitivity syndromeDora Scheiber
2nd Department of Paediatrics, Faculty of Medicine, Semmelweis University, Budapest, Hungary
J Pediatr Endocrinol Metab 16:367-73. 2003..To support the clinical diagnosis of androgen insensitivity syndrome (AIS), we performed mutational analysis of the androgen receptor gene... - Steroid 5alpha-reductase 1 polymorphisms and testosterone/dihydrotestosterone ratio in male patients with hypospadiasAntje Tria
Department of Pediatric and Adolescent Medicine, Klinikum der Stadt Wolfsburg, Sauerbruchstrasse 7, DE 38440 Wolfsburg, Germany
Horm Res 61:180-3. 2004..We investigated 10 patients with elevated T/DHT ratios in whom mutations in the SRD5A2 and AR genes had been excluded to find out whether structural alterations of the SRD5A1 gene could contribute to their genital malformations... - 17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversalSilvano Bertelloni
Pediatric Endocrinology, Department of Reproductive Medicine and Paediatrics, University of Pisa, Santa Chiara Hospital, Pisa, Italy
Gynecol Endocrinol 22:488-94. 2006..The clinical, endocrine and genetic features of 17beta-HSD3 deficiency are also reviewed... - We used to call them hermaphroditesEric Vilain
Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California 90095-7088, USA
Genet Med 9:65-6. 2007 - [Incomplete androgen insensitivity]Andrea Luczay
Semmelweis Egyetem, , , Budapest
Orv Hetil 147:1805-7. 2006..The stimulation test by stanazolol and the androgen receptor gene analysis verified the androgen insensitivity. The mutation was absent in the mother's leukocytes. This fact makes the genetic advising difficult in this family... - [Intersexual children. Who decides on their sex?]Olaf Hiort
MMW Fortschr Med 146:18. 2004 - A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish familyMithat Bahceci
Department of Endocrinology, University of Dicle, School of Medicine, Diyarbakir, Turkey
Urology 66:407-10. 2005..To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family... - Intersex - from gene to gender. Lubeck, Germany, 1-3 April 2004Olaf Hiort
Pediatr Endocrinol Rev 2:50-2. 2004 - The First Egyptian-German workshop on disorders of sex development (DSD) National Research Centre, Cairo, Egypt, 24-25 November 2007Inas Mazen
National Research Center, Cariro, Egypt
Pediatr Endocrinol Rev 5:922-3. 2008