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Swyer syndrome.
- Source :
-
Current opinion in endocrinology, diabetes, and obesity [Curr Opin Endocrinol Diabetes Obes] 2014 Dec; Vol. 21 (6), pp. 504-10. - Publication Year :
- 2014
-
Abstract
- Purpose of Review: This review focuses on the pathogenesis, diagnosis, management and long-term outcomes of disorders of sex development, specifically women with Swyer syndrome (46,XY complete gonadal dysgenesis).<br />Recent Findings: Recent discoveries have broadened our understanding of the complex pathways involved in normal and abnormal sex development. In 46,XY gonadal dysgenesis, lack of testis development may be triggered by sex determining region Y, NR5A1, DHH or testis-determining gene loss-of-function mutations, DAX1 or WNT4 duplication or MAP3K1 gain-of-function mutations. The diagnosis and management of patients with Swyer syndrome is complex, and optimal care requires an experienced multidisciplinary team. Early diagnosis is vital because of the significant risk of germ cell tumour, and bilateral gonadectomy should be performed. Furthermore, early sex hormone treatment is necessary to induce and maintain typical pubertal development and to achieve optimal bone mineral accumulation. Pregnancy is possible via ova donation, and outcomes are similar to women with 46,XX ovarian failure.<br />Summary: Further pathogenic gene mutations are likely to be identified, and the function, interaction and phenotypic effects of new and existing mutations will be further defined. Patients require long-term follow-up in specialist centres.
- Subjects :
- Bone Density
Early Diagnosis
Female
Fertility Preservation methods
Gonadal Dysgenesis, 46,XY drug therapy
Gonadal Dysgenesis, 46,XY pathology
Humans
Neoplasms, Germ Cell and Embryonal drug therapy
Neoplasms, Germ Cell and Embryonal pathology
Ovarian Neoplasms drug therapy
Ovarian Neoplasms pathology
Prognosis
Sexual Development
Gonadal Dysgenesis, 46,XY diagnosis
Gonadal Steroid Hormones therapeutic use
Hormone Replacement Therapy
Neoplasms, Germ Cell and Embryonal prevention & control
Ovarian Neoplasms prevention & control
Subjects
Details
- Language :
- English
- ISSN :
- 1752-2978
- Volume :
- 21
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Current opinion in endocrinology, diabetes, and obesity
- Publication Type :
- Academic Journal
- Accession number :
- 25314337
- Full Text :
- https://doi.org/10.1097/MED.0000000000000113