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46,XY Gonadal Dysgenesis (Swyer Syndrome)

Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
Also Known As:
Swyer Syndrome; Syndrome, Swyer; Gonadal Dysgenesis, 46,XY; 46, XY Gonadal Dysgenesis; 46, XY Gonadal Sex Reversal; Complete Gonadal Dysgenesis, 46, XY; Gonadal Dysgenesis, 46, XY; Pure Gonadal Dysgenesis, 46, XY; Sex Reversal, Gonadal, 46, XY
Networked: 42 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1. Gonadal Dysgenesis (Gonadal Agenesis)
2. Gonadoblastoma
3. Androgen-Insensitivity Syndrome (Testicular Feminization)
4. Dysgerminoma
5. XY Disorders of Sex Development 46 (Male Pseudohermaphroditism)

Experts

1. Çatlı, Gönül: 1 article (09/2015)
2. Berberoğlu, Merih: 1 article (09/2015)
3. Bashamboo, Anu: 1 article (09/2015)
4. McElreavey, Ken: 1 article (09/2015)
5. Abacı, Ayhan: 1 article (09/2015)
6. Smith, E O'Brian: 1 article (01/2015)
7. McCann-Crosby, Bonnie: 1 article (01/2015)
8. Gunn, Sheila: 1 article (01/2015)
9. Karaviti, Lefkothea: 1 article (01/2015)
10. Hicks, M John: 1 article (01/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 46,XY Gonadal Dysgenesis:
1. XY female 46IBA
2. type 5 congenital Adrenal hyperplasiaIBA
3. AnorchiaIBA
4. Ullrich-Turner syndromeIBA
5. GD3 ganglioside (GD(3))IBA
6. H-Y AntigenIBA
7. DNA (Deoxyribonucleic Acid)IBA
8. HormonesIBA
9. XXY syndromeIBA
10. OxidoreductasesIBA

Therapies and Procedures

1. Laparotomy
2. Ovariectomy (Oophorectomy)
3. Hysterectomy
4. Appendectomy