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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
6611 ACTH deficiency due to TBX19 mutation mimics complete adrenal insufficiency in a newborn
Journal of the Endocrine Society, Volume 8, Issue Supplement_1, October-November 2024, bvae163.1402, https://doi.org/10.1210/jendso/bvae163.1402
Published: 05 October 2024
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
SUN-060 Steroid Hormone Profile Differentiates Gynecomastia and Pseudo- Gynecomastia in Pubertal Boys
Journal of the Endocrine Society, Volume 4, Issue Supplement_1, April-May 2020, SUN-060, https://doi.org/10.1210/jendso/bvaa046.364
Published: 08 May 2020
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
