1-20 of 25
Authors: Paul-Martin Holterhus
Journal Article
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Phenotypic Variation and Pubertal Outcomes in Males and Females with 46,XY Partial Gonadal Dysgenesis
The Journal of Clinical Endocrinology & Metabolism, dgaf223, https://doi.org/10.1210/clinem/dgaf223
Published: 10 April 2025
Journal Article
Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome
The Journal of Clinical Endocrinology & Metabolism, dgae562, https://doi.org/10.1210/clinem/dgae562
Published: 30 August 2024
Journal Article
The Endocrine Phenotype Induced by Pediatric Adrenocortical Tumors Is Age- and Sex-Dependent
The Journal of Clinical Endocrinology & Metabolism, Volume 109, Issue 8, August 2024, Pages 2053–2060, https://doi.org/10.1210/clinem/dgae073
Published: 06 February 2024
Journal Article
Salivary Diurnal Glucocorticoid Profiles in Monozygotic Twins With Intratwin Birthweight Differences
The Journal of Clinical Endocrinology & Metabolism, Volume 109, Issue 1, January 2024, Pages e40–e50, https://doi.org/10.1210/clinem/dgad492
Published: 23 August 2023
Journal Article
Sex Hormone Profile in Pubertal Boys With Gynecomastia and Pseudogynecomastia
The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 4, April 2020, Pages e1025–e1032, https://doi.org/10.1210/clinem/dgaa044
Published: 30 January 2020
Journal Article
Response to Letter to the Editor: “Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis”
The Journal of Clinical Endocrinology & Metabolism, Volume 104, Issue 12, December 2019, Pages 5812–5813, https://doi.org/10.1210/jc.2019-01413
Published: 05 July 2019
Journal Article
Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism
The Journal of Clinical Endocrinology & Metabolism, Volume 104, Issue 10, October 2019, Pages 4630–4638, https://doi.org/10.1210/jc.2019-00108
Published: 10 June 2019
Journal Article
Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis
The Journal of Clinical Endocrinology & Metabolism, Volume 104, Issue 10, October 2019, Pages 4366–4381, https://doi.org/10.1210/jc.2018-02752
Published: 25 April 2019
Journal Article
Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)
The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 12, December 2018, Pages 4617–4627, https://doi.org/10.1210/jc.2018-00052
Published: 16 August 2018
Journal Article
Birth Weight in Different Etiologies of Disorders of Sex Development
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 3, 1 March 2017, Pages 1044–1050, https://doi.org/10.1210/jc.2016-3460
Published: 06 January 2017
Journal Article
Determination of 17OHPreg and DHEAS by LC-MS/MS: Impact of Age, Sex, Pubertal Stage, and BMI on the Δ5 Steroid Pathway
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 1, 1 January 2017, Pages 232–241, https://doi.org/10.1210/jc.2016-2849
Published: 03 November 2016
Journal Article
Relationships Between 24-Hour Urinary Free Cortisol Concentrations and Metabolic Syndrome in Obese Children Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 99, Issue 7, 1 July 2014, Pages 2391–2399, https://doi.org/10.1210/jc.2013-4398
Published: 01 July 2014
Journal Article
Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 99, Issue 2, 1 February 2014, Pages E348–E355, https://doi.org/10.1210/jc.2013-2918
Published: 01 February 2014
Journal Article
Steroid Hormone Profiles in Prepubertal Obese Children Before and After Weight Loss Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 98, Issue 6, 1 June 2013, Pages E1022–E1030, https://doi.org/10.1210/jc.2013-1173
Published: 01 June 2013
Journal Article
PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 12, 1 December 2012, Pages E2328–E2338, https://doi.org/10.1210/jc.2012-2326
Published: 01 December 2012
Journal Article
Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 3, 1 March 2010, Pages 1301–1308, https://doi.org/10.1210/jc.2009-1176
Published: 01 March 2010
Journal Article
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 Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 7, 1 July 2008, Pages 2891–2895, https://doi.org/10.1210/jc.2007-2646
Published: 01 July 2008
Journal Article
Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 4, 1 April 2008, Pages 1418–1425, https://doi.org/10.1210/jc.2007-1874
Published: 01 April 2008
Journal Article
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 Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 9, 1 September 2006, Pages 3515–3520, https://doi.org/10.1210/jc.2006-0372
Published: 01 September 2006
Journal 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 Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 7, 1 July 2006, Pages 2682–2688, https://doi.org/10.1210/jc.2006-0209
Published: 01 July 2006
