PubMed

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

Krone N, Grötzinger J, Holterhus PM, Sippell WG, Schwarz HP, Riepe FG.

Horm Res. 2009;72(5):281-6. Epub 2009 Oct 19.PMID: 19844114 [PubMed - in process]Related articles

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes.

Holterhus PM, Bebermeier JH, Werner R, Demeter J, Richter-Unruh A, Cario G, Appari M, Siebert R, Riepe F, Brooks JD, Hiort O.

BMC Genomics. 2009 Jul 1;10:292.PMID: 19570224 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Appari M, Werner R, Wünsch L, Cario G, Demeter J, Hiort O, Riepe F, Brooks JD, Holterhus PM.

J Mol Med. 2009 Jun;87(6):623-32. Epub 2009 Mar 30.PMID: 19330472 [PubMed - indexed for MEDLINE]Related articles

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.

Riepe FG, van Bemmelen MX, Cachat F, Plendl H, Gautschi I, Krone N, Holterhus PM, Theintz G, Schild L.

Clin Endocrinol (Oxf). 2009 Feb;70(2):252-8.PMID: 18547339 [PubMed - indexed for MEDLINE]Related articles

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.

Kremke B, Bergwitz C, Ahrens W, Schütt S, Schumacher M, Wagner V, Holterhus PM, Jüppner H, Hiort O.

Exp Clin Endocrinol Diabetes. 2009 Feb;117(2):49-56. Epub 2008 Jun 3.PMID: 18523928 [PubMed - indexed for MEDLINE]Related articles

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.

Riepe FG, Hiort O, Grötzinger J, Sippell WG, Krone N, Holterhus PM.

J Clin Endocrinol Metab. 2008 Jul;93(7):2891-5. Epub 2008 Apr 29.PMID: 18445671 [PubMed - indexed for MEDLINE]Related articlesFree article

Altered transcription profiles of key-enzymes of androgen biosynthesis in genital skin fibroblasts from patients with 46,XY disorders of sex development (DSD).

Hoppe U, Wünsch L, Holterhus PM, Jocham D, Richter-Unruh A, Hiort O.

Sex Dev. 2007;1(4):230-7.PMID: 18391534 [PubMed - indexed for MEDLINE]Related articles

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.

Welzel M, Wüstemann N, Simic-Schleicher G, Dörr HG, Schulze E, Shaikh G, Clayton P, Grötzinger J, Holterhus PM, Riepe FG.

J Clin Endocrinol Metab. 2008 Apr;93(4):1418-25. Epub 2008 Feb 5.PMID: 18252794 [PubMed - indexed for MEDLINE]Related articlesFree article

Comparison of continuous subcutaneous insulin infusion (CSII) and multiple daily injections (MDI) in paediatric Type 1 diabetes: a multicentre matched-pair cohort analysis over 3 years.

Jakisch BI, Wagner VM, Heidtmann B, Lepler R, Holterhus PM, Kapellen TM, Vogel C, Rosenbauer J, Holl RW; German/Austrian DPV Initiative and Working Group for Paediatric Pump Therapy.

Diabet Med. 2008 Jan;25(1):80-5.PMID: 18199134 [PubMed - indexed for MEDLINE]Related articles

Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate.

Jochumsen U, Werner R, Miura N, Richter-Unruh A, Hiort O, Holterhus PM.

Sex Dev. 2008;2(6):302-8. Epub 2009 Mar 10.PMID: 19276632 [PubMed - indexed for MEDLINE]Related articles

Prevailing therapeutic regimes and predictive factors for prandial insulin substitution in 26 687 children and adolescents with Type 1 diabetes in Germany and Austria.

Knerr I, Hofer SE, Holterhus PM, Näke A, Rosenbauer J, Weitzel D, Wolf J, Holl RW.

Diabet Med. 2007 Dec;24(12):1478-81. Epub 2007 Oct 29.PMID: 17971184 [PubMed - indexed for MEDLINE]Related articles

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.

Holterhus PM, Deppe U, Werner R, Richter-Unruh A, Bebermeier JH, Wünsch L, Krege S, Schweikert HU, Demeter J, Riepe F, Hiort O, Brooks JD.

BMC Genomics. 2007 Oct 18;8:376.PMID: 17945006 [PubMed - indexed for MEDLINE]Related articlesFree article

Delayed menarche in young German women with type 1 diabetes mellitus: recent results from the DPV diabetes documentation and quality management system.

Rohrer T, Stierkorb E, Grabert M, Holterhus PM, Kapellen T, Knerr I, Mix M, Holl RW; DPV Initiative.

Eur J Pediatr. 2008 Jul;167(7):793-9. Epub 2007 Sep 1.PMID: 17763869 [PubMed - indexed for MEDLINE]Related articles

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

Holterhus PM, Odendahl R, Oesingmann S, Lepler R, Wagner V, Hiort O, Holl R; German/Austrian DPV Initiative; German Pediatric CSII Working Group.

Diabetes Care. 2007 Mar;30(3):568-73.PMID: 17327322 [PubMed - indexed for MEDLINE]Related articlesFree article

Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families.

Riepe FG, Holterhus PM.

Am J Nephrol. 2007;27(2):164-9. Epub 2007 Feb 23.PMID: 17317952 [PubMed - indexed for MEDLINE]Related articles

Gender role behavior in children with XY karyotype and disorders of sex development.

Jürgensen M, Hiort O, Holterhus PM, Thyen U.

Horm Behav. 2007 Mar;51(3):443-53. Epub 2007 Jan 12.PMID: 17306800 [PubMed - indexed for MEDLINE]Related articles

Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription.

Bebermeier JH, Brooks JD, DePrimo SE, Werner R, Deppe U, Demeter J, Hiort O, Holterhus PM.

J Mol Med. 2006 Nov;84(11):919-31. Epub 2006 Aug 24.PMID: 16932916 [PubMed - indexed for MEDLINE]Related articles

Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs.

Werner R, Schütt J, Hannema S, Röpke A, Wieacker P, Hiort O, Holterhus PM.

J Steroid Biochem Mol Biol. 2006 Sep;101(1):1-10. Epub 2006 Aug 22.PMID: 16930995 [PubMed - indexed for MEDLINE]Related articles

Epidemiology and initial management of ambiguous genitalia at birth in Germany.

Thyen U, Lanz K, Holterhus PM, Hiort O.

Horm Res. 2006;66(4):195-203. Epub 2006 Jul 27.PMID: 16877870 [PubMed - indexed for MEDLINE]Related articles

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.

Werner R, Holterhus PM, Binder G, Schwarz HP, Morlot M, Struve D, Marschke C, Hiort O.

J Clin Endocrinol Metab. 2006 Sep;91(9):3515-20. Epub 2006 Jun 27.PMID: 16804045 [PubMed - indexed for MEDLINE]Related articlesFree article

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 deficiency.

Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus PM, Sippell WG, Riepe FG.

J Clin Endocrinol Metab. 2006 Jul;91(7):2682-8. Epub 2006 May 2.PMID: 16670167 [PubMed - indexed for MEDLINE]Related articlesFree article

Tissue-specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor.

Hoppe U, Holterhus PM, Wünsch L, Jocham D, Drechsler T, Thiele S, Marschke C, Hiort O.

J Mol Med. 2006 Aug;84(8):651-9. Epub 2006 Mar 25.PMID: 16572348 [PubMed - indexed for MEDLINE]Related articles

The basis of gender assignment in disorders of somatosexual differentiation.

Hiort O, Thyen U, Holterhus PM.

Horm Res. 2005;64 Suppl 2:18-22.PMID: 16286765 [PubMed - indexed for MEDLINE]Related articles

Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.

Holterhus PM, Werner R, Hoppe U, Bassler J, Korsch E, Ranke MB, Dörr HG, Hiort O.

J Mol Med. 2005 Dec;83(12):1005-13. Epub 2005 Nov 11.PMID: 16283146 [PubMed - indexed for MEDLINE]Related articles

Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.

Holterhus PM, Werner R, Struve D, Hauffa BP, Schroeder C, Hiort O.

Exp Clin Endocrinol Diabetes. 2005 Sep;113(8):457-63.PMID: 16151980 [PubMed - indexed for MEDLINE]Related articles

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.

Thiele S, Hoppe U, Holterhus PM, Hiort O.

Eur J Endocrinol. 2005 Jun;152(6):875-80.PMID: 15941927 [PubMed - indexed for MEDLINE]Related articlesFree article

Transactivation properties of wild-type and mutant androgen receptors in transiently transfected primary human fibroblasts.

Holterhus PM, Salzburg J, Werner R, Hiort O.

Horm Res. 2005;63(3):152-8. Epub 2005 Apr 6.PMID: 15812177 [PubMed - indexed for MEDLINE]Related articles

Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis.

Richter-Unruh A, Korsch E, Hiort O, Holterhus PM, Themmen AP, Wudy SA.

Eur J Endocrinol. 2005 Feb;152(2):255-9.PMID: 15745934 [PubMed - indexed for MEDLINE]Related articlesFree article

Deciding on gender in children with intersex conditions: considerations and controversies.

Thyen U, Richter-Appelt H, Wiesemann C, Holterhus PM, Hiort O.

Treat Endocrinol. 2005;4(1):1-8. Review.PMID: 15649096 [PubMed - indexed for MEDLINE]Related articles

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.

Hiort O, Holterhus PM, Werner R, Marschke C, Hoppe U, Partsch CJ, Riepe FG, Achermann JC, Struve D.

J Clin Endocrinol Metab. 2005 Jan;90(1):538-41. Epub 2004 Oct 26.PMID: 15507506 [PubMed - indexed for MEDLINE]Related articlesFree article

Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency.

Schütt SM, Schumacher M, Holterhus PM, Felgenhauer S, Hiort O.

Eur J Endocrinol. 2003 Oct;149(4):317-21.PMID: 14514346 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Holterhus PM, Hiort O, Demeter J, Brown PO, Brooks JD.

Genome Biol. 2003;4(6):R37. Epub 2003 May 15.PMID: 12801411 [PubMed - indexed for MEDLINE]Related articlesFree article

Puberty in disorders of somatosexual differentiation.

Hiort O, Reinecke S, Thyen U, Jürgensen M, Holterhus PM, Schön D, Richter-Appelt H.

J Pediatr Endocrinol Metab. 2003 Mar;16 Suppl 2:297-306.PMID: 12729408 [PubMed - indexed for MEDLINE]Related articles

Anabolic steroids, testosterone-precursors and virilizing androgens induce distinct activation profiles of androgen responsive promoter constructs.

Holterhus PM, Piefke S, Hiort O.

J Steroid Biochem Mol Biol. 2002 Nov;82(4-5):269-75.PMID: 12589933 [PubMed - indexed for MEDLINE]Related articles

Androgen insensitivity and male infertility.

Hiort O, Holterhus PM.

Int J Androl. 2003 Feb;26(1):16-20. Review.PMID: 12534933 [PubMed - indexed for MEDLINE]Related articles

[Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency]

Twesten W, Johannisson R, Holterhus PM, Hiort O.

Klin Padiatr. 2002 Sep-Oct;214(5):314-5. German. PMID: 12235550 [PubMed - indexed for MEDLINE]Related articles

A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency.

Hiort O, Schütt SM, Bals-Pratsch M, Holterhus PM, Marschke C, Struve D.

Int J Androl. 2002 Feb;25(1):55-8.PMID: 11869378 [PubMed - indexed for MEDLINE]Related articles

Post-zygotic mutations and somatic mosaicism in androgen insensitivity syndrome.

Holterhus PM, Brüggenwirth HT, Brinkmann AO, Hiort O.

Trends Genet. 2001 Nov;17(11):627-8. No abstract available. PMID: 11672858 [PubMed - indexed for MEDLINE]Related articles

A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants.

Hellwinkel OJ, Holterhus PM, Struve D, Marschke C, Homburg N, Hiort O.

J Clin Endocrinol Metab. 2001 Jun;86(6):2569-75.PMID: 11397856 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity.

Holterhus PM, Sinnecker GH, Hiort O.

J Clin Endocrinol Metab. 2000 Sep;85(9):3245-50.PMID: 10999816 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical, endocrine, and molecular genetic findings in patients with 17beta-hydroxysteroid dehydrogenase deficiency.

Twesten W, Holterhus P, Sippell WG, Morlot M, Schumacher H, Schenk B, Hiort O.

Horm Res. 2000;53(1):26-31.PMID: 10965217 [PubMed - indexed for MEDLINE]Related articles

Significance of mutations in the androgen receptor gene in males with idiopathic infertility.

Hiort O, Holterhus PM, Horter T, Schulze W, Kremke B, Bals-Pratsch M, Sinnecker GH, Kruse K.

J Clin Endocrinol Metab. 2000 Aug;85(8):2810-5.PMID: 10946887 [PubMed - indexed for MEDLINE]Related articlesFree article

The molecular basis of male sexual differentiation.

Hiort O, Holterhus PM.

Eur J Endocrinol. 2000 Feb;142(2):101-10. Review.PMID: 10664515 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome.

Holterhus PM, Wiebel J, Sinnecker GH, Brüggenwirth HT, Sippell WG, Brinkmann AO, Kruse K, Hiort O.

Pediatr Res. 1999 Dec;46(6):684-90.PMID: 10590024 [PubMed - indexed for MEDLINE]Related articles

Chronic recurrent multifocal osteomyelitis in children.

Schultz C, Holterhus PM, Seidel A, Jonas S, Barthel M, Kruse K, Bucsky P.

Pediatr Infect Dis J. 1999 Nov;18(11):1008-13. No abstract available. PMID: 10571440 [PubMed - indexed for MEDLINE]Related articles

Expression of two functionally different androgen receptors in a patient with androgen insensitivity.

Holterhus PM, Sinnecker GH, Wollmann HA, Struve D, Homburg N, Kruse K, Hiort O.

Eur J Pediatr. 1999 Sep;158(9):702-6.PMID: 10485299 [PubMed - indexed for MEDLINE]Related articles

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.

Hellwinkel OJ, Bull K, Holterhus PM, Homburg N, Struve D, Hiort O.

J Steroid Biochem Mol Biol. 1999 Jan;68(1-2):1-9. Erratum in: J Steroid Biochem Mol Biol 1999 Nov;71(1-2):91. PMID: 10215032 [PubMed - indexed for MEDLINE]Related articles

Physiology and pathophysiology of androgen action.

Hiort O, Holterhus PM, Nitsche EM.

Baillieres Clin Endocrinol Metab. 1998 Apr;12(1):115-32. Review.PMID: 9890064 [PubMed - indexed for MEDLINE]Related articles

Inherited and de novo androgen receptor gene mutations: investigation of single-case families.

Hiort O, Sinnecker GH, Holterhus PM, Nitsche EM, Kruse K.

J Pediatr. 1998 Jun;132(6):939-43.PMID: 9627582 [PubMed - indexed for MEDLINE]Related articles

Immunohistochemistry and in situ hybridization of the androgen receptor in the developing human prostate.

Aumüller G, Holterhus PM, Konrad L, von Rahden B, Hiort O, Esquenet M, Verhoeven G.

Anat Embryol (Berl). 1998 Mar;197(3):199-208.PMID: 9543338 [PubMed - indexed for MEDLINE]Related articles