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List of works by Paul-Martin Holterhus

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Epidemiology and initial management of ambiguous genitalia at birth in Germany

scientific article published on 27 July 2006
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

scientific article published on 5 October 2012
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

scientific article published on 26 October 2004
Male gender identity in complete androgen insensitivity syndrome

scientific article
Management of disorders of sex development

scientific article published on 15 July 2014
Gender role behavior in children with XY karyotype and disorders of sex development

scientific article published on 12 January 2007
Novel associations in disorders of sex development: findings from the I-DSD Registry

scientific article published on 03 December 2013
Changes over time in sex assignment for disorders of sex development.

scientific article published on 4 August 2014
Hospital admission for diabetic ketoacidosis or severe hypoglycemia in 31 330 young patients with type 1 diabetes

scientific article published on June 18, 2015
Classification of distinct baseline insulin infusion patterns in children and adolescents with type 1 diabetes on continuous subcutaneous insulin infusion therapy

scientific article published in March 2007
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

scientific article published on 22 February 2017
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

scientific article
Relationships Between 24-Hour Urinary Free Cortisol Concentrations and Metabolic Syndrome in Obese Children

scientific article published on March 26, 2014
Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription

scientific article published on 24 August 2006
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

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

scientific article
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

scientific article published on 04 July 2018
Steroid Hormone Profiles in Prepubertal Obese Children Before and After Weight Loss

scientific article published on May 23, 2013
Implementation of a Liquid Chromatography Tandem Mass Spectrometry Assay for Eight Adrenal C-21 Steroids and Pediatric Reference Data

scientific article published on January 17, 2013
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

scientific article published on 02 May 2006
A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

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

scientific article
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1

scientific article published on April 15, 2013
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene

scientific article published on 15 January 2010
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

scientific article published on 11 September 2013
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

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

scientific article published in February 2009
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

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

scientific article published on 5 February 2008
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

scientific article published on 19 October 2009
Delayed menarche in young German women with type 1 diabetes mellitus: recent results from the DPV diabetes documentation and quality management system

scientific article published in September 2007
Androgen receptor function links human sexual dimorphism to DNA methylation

scientific article
CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency

scientific article published on September 26, 2011
A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency

scientific article (publication date: February 2002)
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

scientific article published on 29 April 2008
Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

scientific article
Puberty in disorders of somatosexual differentiation

scientific article published on March 1, 2003
Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency

scientific article published on April 10, 2014
Androgen Action

scientific article published on 09 September 2014
Longitudinal analyses of the steroid metabolome in obese PCOS girls with weight loss

scientific article
Predicting the optimal basal insulin infusion pattern in children and adolescents on insulin pumps.

scientific article published on 12 February 2013
Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family

scientific article published on December 22, 2011
Copeptin in obese children and adolescents: relationships to body mass index, cortisol and gender

scientific article
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

scientific article published on 07 June 2011
Age and skin site related differences in steroid metabolism in male skin point to a key role of sebocytes in cutaneous hormone metabolism

scientific article published on January 1, 2012
Weight loss in obese girls with polycystic ovarian syndrome is associated with a decrease in Anti-Muellerian Hormone concentrations

scientific article published on 22 April 2017
Growth Hormone Treatment for Short Stature in the USA, Germany and France: 15 Years of Surveillance in the Genetics and Neuroendocrinology of Short-Stature International Study (GeNeSIS)

scientific article published on 10 September 2018
Birth Weight in Different Etiologies of Disorders of Sex Development

scientific article published on March 2017
The basis of gender assignment in disorders of somatosexual differentiation

scientific article published in January 2005
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms

scientific article published on July 25, 2012

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