Nonsyndromic Disorders of Testicular Development Overview
- PMID: 20301714
- Bookshelf ID: NBK1547
Nonsyndromic Disorders of Testicular Development Overview
Excerpt
The purpose of this overview is to:
- 1
To describe the clinical characteristics of nonsyndromic disorders of testicular development;
- 2
To review the genetic causes of nonsyndromic disorders of testicular development and conditions that may be in the differential diagnosis;
- 3
To provide an evaluation strategy to identify the genetic cause of nonsyndromic disorders of testicular development (when possible);
- 4
To inform management regarding sex of rearing, medical/surgical intervention (when appropriate), hormone therapy, and psychosocial aspects of care;
- 5
To inform genetic risk assessment in family members of a proband.
Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.
Sections
- Summary
-
GeneReview Scope - 1. Clinical Characteristics of Nonsyndromic Disorders of Testicular Development
- 2. Causes of Nonsyndromic Disorders of Testicular Development
- 3. Evaluation Strategies to Identify the Genetic Cause of Nonsyndromic Disorders of Testicular Development
- 4. Management
- 5. Genetic Risk Assessment
- Resources
- Chapter Notes
- References
Similar articles
-
Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development.2003 Oct 30 [updated 2022 May 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 Oct 30 [updated 2022 May 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301589 Free Books & Documents. Review.
-
Leukodystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24501781 Free Books & Documents. Review.
-
CACNA1C-Related Disorders.2006 Feb 15 [updated 2024 Dec 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2006 Feb 15 [updated 2024 Dec 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301577 Free Books & Documents. Review.
-
Etiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series.Hum Reprod Open. 2023 Dec 1;2023(4):hoad047. doi: 10.1093/hropen/hoad047. eCollection 2023. Hum Reprod Open. 2023. PMID: 39659563 Free PMC article.
-
Nonsyndromic Tooth Agenesis Overview.2021 Jul 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2021 Jul 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 34292692 Free Books & Documents. Review.
References
-
- Ayers K, Van den Bergen J, Robevska G, Listyasari N, Raza J, Atta I, Riedl S, Rothacker K, Choong C, Faradz S, Sinclair A. Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development. J Med Genet. 2019;56:434-43. - PMC - PubMed
-
- Baldinotti F, Cavallaro T, Dati E, Baroncelli G, Bertini V, Valetto A, Massart F, Fabrizi G, Zanette G, Peroni D, Bertelloni S. Novel familial variant of the desert hedgehog gene: clinical findings in two sisters with 46,XY gonadal dysgenesis or 46,XX karyotype and literature review. Horm Res Paediatr. 2018;89:141-9. - PubMed
-
- Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab. 2007;92:3305-13. - PubMed
Publication types
LinkOut - more resources
Full Text Sources
Medical
Research Materials
Miscellaneous