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Introduction: Individuals with 17-beta-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency face a multitude of challenges, primarily concerning genital appearance, potential malignancy risks, and fertility issues. This study reports our findings from an investigation involving five individuals affected by 17β-HSD3 deficiency, ranging in age from pre-adolescence to adolescence. Notably, we identified four previously unreported mutations in these subjects.

Methods: Our study included a comprehensive evaluation to determine the potential occurrence of testicular tumors. The methods involved clinical examinations, genetic testing, hormone profiling, and patient history assessments. We closely monitored the progress of the study subjects throughout their treatment.

Results: The results of this evaluation conclusively ruled out the presence of testicular tumors among our study subjects. Moreover, four of these individuals successfully underwent gender transition. Furthermore, we observed significant improvements in genital appearance following testosterone treatment, particularly among patients in the younger age groups who received appropriate treatment interventions.

Discussion: These findings underscore the critical importance of early intervention in addressing concerns related to genital appearance, based on our extensive clinical experience and assessments. In summary, our study provides insights into the clinical aspects of 17β-HSD3 deficiency, emphasizing the vital significance of early intervention in addressing genital appearance concerns. This recommendation is supported by our comprehensive clinical assessments and experience.

Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Titel:	Four novel mutations identification in 17 beta-hydroxysteroid dehydrogenase-3 deficiency and our clinical experience: possible benefits of early treatment.
Autor/in / Beteiligte Person:	Wang, Y ; Xu, Y ; Zhang, H ; Yin, D ; Pan, Y ; He, X ; Li, S ; Cheng, Z ; Zhu, G ; Zhao, T ; Huang, H ; Zhu, M
Link:	Full Text Finder (Volltext)
Zeitschrift:	Frontiers in endocrinology, Jg. 14 (2024-02-15), S. 1267967
Veröffentlichung:	[Lausanne : Frontiers Research Foundation], 2024
Medientyp:	academicJournal
ISSN:	1664-2392 (print)
DOI:	10.3389/fendo.2023.1267967
Schlagwort:	Male Adolescent Humans Mutation 17-Hydroxysteroid Dehydrogenases genetics Disorder of Sex Development, 46,XY genetics 17-Hydroxysteroid Dehydrogenases deficiency Testicular Neoplasms Gynecomastia Steroid Metabolism, Inborn Errors
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article; Research Support, Non-U.S. Gov't Language: English [Front Endocrinol (Lausanne)] 2024 Feb 15; Vol. 14, pp. 1267967. <i>Date of Electronic Publication: </i>2024 Feb 15 (<i>Print Publication: </i>2023). MeSH Terms: Disorder of Sex Development, 46,XY* / genetics ; Testicular Neoplasms* ; Gynecomastia* ; Steroid Metabolism, Inborn Errors* ; 17-Hydroxysteroid Dehydrogenases / *deficiency ; Male ; Adolescent ; Humans ; Mutation ; 17-Hydroxysteroid Dehydrogenases / genetics References: Int J Mol Sci. 2022 Dec 08;23(24):. (PMID: 36555196) ; Endocrinology. 1991 Apr;128(4):1805-11. (PMID: 1825979) ; Horm Res Paediatr. 2016;85(3):158-80. (PMID: 26820577) ; Horm Res Paediatr. 2010;74(4):229-40. (PMID: 20689261) ; J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):79-85. (PMID: 27163392) ; Steroids. 1986 Jul-Aug;48(1-2):1-26. (PMID: 2821659) ; Steroids. 2017 Oct;126:1-6. (PMID: 28774765) ; Nat Genet. 1994 May;7(1):34-9. (PMID: 8075637) ; Front Endocrinol (Lausanne). 2022 May 24;13:898876. (PMID: 35685219) ; J Clin Endocrinol Metab. 1979 Sep;49(3):391-5. (PMID: 468973) ; J Pediatr Adolesc Gynecol. 1996 Feb;9(1):9-11. (PMID: 9551369) ; Endocr Rev. 2022 Jan 12;43(1):91-159. (PMID: 33961029) ; Clin Endocrinol (Oxf). 2007 Jul;67(1):20-8. (PMID: 17466011) ; Medicine (Baltimore). 2000 Sep;79(5):299-309. (PMID: 11039078) ; Mol Endocrinol. 2006 Feb;20(2):437-43. (PMID: 16166196) ; J Pediatr Endocrinol Metab. 2015 May;28(5-6):623-8. (PMID: 25536660) ; Eur J Biochem. 2002 Sep;269(18):4409-17. (PMID: 12230552) ; Mol Endocrinol. 1990 Feb;4(2):268-75. (PMID: 2330005) ; Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:455-61. (PMID: 17551466) ; BMC Endocr Disord. 2017 Aug 18;17(1):52. (PMID: 28821302) ; J Clin Endocrinol Metab. 1999 Dec;84(12):4713-21. (PMID: 10599740) ; BJU Int. 2000 Jan;85(1):120-4. (PMID: 10619959) ; J Clin Endocrinol Metab. 1996 Jan;81(1):130-6. (PMID: 8550739) ; J Endocrinol Invest. 2008 Jan;31(1):85-91. (PMID: 18296911) ; J Clin Endocrinol Metab. 2005 Sep;90(9):5295-303. (PMID: 15998778) ; J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):86-94. (PMID: 26956191) ; J Clin Endocrinol Metab. 1980 Dec;51(6):1293-7. (PMID: 6449517) ; Biochim Biophys Acta. 2002 Nov 19;1601(1):29-37. (PMID: 12429500) ; J Clin Invest. 1992 Sep;90(3):799-809. (PMID: 1522235) ; Ann Clin Biochem. 2013 Mar;50(Pt 2):95-107. (PMID: 23431485) ; Int J Mol Sci. 2022 Sep 02;23(17):. (PMID: 36077423) Contributed Indexing: Keywords: 17β-HSD3 deficiency; HSD17B3; androgen; malignancy risk; mutation; testosterone Substance Nomenclature: EC 1.1.- (17-Hydroxysteroid Dehydrogenases) SCR Disease Name: 17-Hydroxysteroid Dehydrogenase Deficiency Entry Date(s): Date Created: 20240301 Date Completed: 20240304 Latest Revision: 20240304 Update Code: 20240304 PubMed Central ID: PMC10902039

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Four novel mutations identification in 17 beta-hydroxysteroid dehydrogenase-3 deficiency and our clinical experience: possible benefits of early treatment.