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Genomes and GenesSpecies | Paul Martin HolterhusSummaryCountry: Germany Publications
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Publications
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasiaMaik Welzel
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts Universitat zu Kiel, 24105 Kiel, Germany
J Clin Endocrinol Metab 93:1418-25. 2008..Most mutations are located within domains regarded crucial for enzyme function. The function of the C terminus of the 3beta-HSD protein is not known...- Anabolic steroids, testosterone-precursors and virilizing androgens induce distinct activation profiles of androgen responsive promoter constructsP M Holterhus
Department of Pediatrics, Medical University of Lubeck, Germany
J Steroid Biochem Mol Biol 82:269-75. 2002..We conclude that steroid-specific differences in gene transcription profiles due to androgen receptor activation could contribute to differences in biological actions of androgens... - 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.... - Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiencyNils Krone
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts Universitat zu Kiel, Universitätsklinikum Schleswig Holstein Campus Kiel, Schwanenweg 20, D 24105 Kiel, Germany
J Clin Endocrinol Metab 91:2682-8. 2006..Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The deficiency of steroid 11-hydroxylase (CYP11B1) resulting from mutations in the CYP11B1 gene is the second most frequent cause... - 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... - 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.... - Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR geneSusanne Bens
Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Schwanenweg 20, D 24105 Kiel, Germany
J Clin Endocrinol Metab 95:1301-8. 2010..We speculate that the substitution of hydrophilic glutamine with basic arginine at the surface of the molecule may accelerate cholesterol transfer... - Transcriptional response of peripheral blood mononuclear cells to recombinant human growth hormone in a routine four-days IGF-I generation testMaik Welzel
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian Albrechts University, Kiel, Germany
Growth Horm IGF Res 21:336-42. 2011..Genome-wide transcriptional changes in peripheral blood mononuclear cells (PBMC) have been widely used as functional readout for different pharmacological stimuli... - 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... - 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... - 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... - 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... - 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... - Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivityP M Holterhus
Department of Pediatrics, Medical University of Lubeck, Germany
J Clin Endocrinol Metab 85:3245-50. 2000.... - The molecular basis of male sexual differentiationO Hiort
Department of Paediatrics, Medical University of Lubeck, Lubeck, Germany
Eur J Endocrinol 142:101-10. 2000..Disruption of these genetic events leads to sexual dimorphism involving external and internal genitalia, and may also interfere with the development of other organs... - Transactivation properties of wild-type and mutant androgen receptors in transiently transfected primary human fibroblastsP M Holterhus
Department of Pediatrics, University Hospital Schleswig Holstein, Campus Lubeck, Lubeck, Germany
Horm Res 63:152-8. 2005..The role of the intrinsic AR in normal male human foreskin fibroblasts needs further exploration... - Expression of two functionally different androgen receptors in a patient with androgen insensitivityP M Holterhus
Department of Paediatrics, Medical University of Lubeck, Germany
Eur J Pediatr 158:702-6. 1999..It underlines the importance of particular notice on somatic mosaicism in all androgen insensitivity syndrome patients carrying de novo mutations of the androgen receptor gene... - 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... - Molecular androgen memory in sex developmentPaul Martin Holterhus
Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian Albrechts University of Kiel and University Hospital Schleswig Holstein, Campus Kiel, Kiel, Germany
Pediatr Endocrinol Rev 9:515-8. 2011..In essence, there is evidence for a molecular androgen memory at both the transcriptome and the epigenome level... - 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... - The clinical and molecular spectrum of androgen insensitivity syndromesO Hiort
Department of Pediatrics, Medical University of Lubeck, Germany
Am J Med Genet 63:218-22. 1996..We conclude that mutations in the androgen receptor gene may be present throughout the whole coding region. However, our study provides evidence that several mutational hot spots exist... - Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study GroupG H Sinnecker
Department of Paediatrics, Medical University of Lubeck, Germany
Eur J Pediatr 156:7-14. 1997..It may provide useful information for the diagnosis and management of affected children... - Inherited and de novo androgen receptor gene mutations: investigation of single-case familiesO Hiort
Department of Pediatrics, Medical University of Lubeck, Wolfsburg, Germany
J Pediatr 132:939-43. 1998..The objective of this study was to assess somatic and inherited androgen receptor gene mutations in families with only one affected individual... - 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... - Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight familiesFelix G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Campus Kiel, Kiel, Germany
Am J Nephrol 27:164-9. 2007..Therefore variations in the SGK1 gene may aggravate renal salt loss or cause PHA1... - 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... - Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndromeP M Holterhus
Department of Pediatrics, Medical University, Lubeck, Germany
Pediatr Res 46:684-90. 1999..The possibility of functionally relevant expression of the wild-type AR needs to be considered in all mosaic individuals, and treatment should be adjusted accordingly... - 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 dataA E Kulle
Department of Pediatrics, Christian Albrechts University of Kiel, 24105 Kiel, Germany
J Clin Endocrinol Metab 95:2399-409. 2010..Mass spectrometry-based methods are available for individual steroids but need complex sample preparation and report only fragmentary reference data for the pediatric population... - A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variantsO J Hellwinkel
Department of Pediatrics, , , Germany
J Clin Endocrinol Metab 86:2569-75. 2001.... - No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiencyM Welzel
Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian Albrechts University, Schwanenweg 20, D 24105 Kiel, Germany
J Clin Endocrinol Metab 95:2443-50. 2010..However, genital virilization in affected females correlates only weakly with CYP21A2 mutation groups, suggesting the influence of genetic modifiers... - 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... - 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.... - 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... - 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... - 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... - 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...