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.
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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
References
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- 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
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- 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
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- 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