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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; 46,XY Complete Gonadal Dysgenesis; Complete Gonadal Dysgenesis, 46, XY; Gonadal Dysgenesis, 46, XY; Pure Gonadal Dysgenesis 46,XY; Pure Gonadal Dysgenesis, 46, XY; Sex Reversal, Gonadal, 46, XY; XY Pure Gonadal Dysgenesis
Networked: 91 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Gonadoblastoma
2. Turner Syndrome (Turner's Syndrome)
3. Dysgerminoma
4. Mixed Gonadal Dysgenesis
5. Hyperandrogenism

Experts

1. Bashamboo, Anu: 6 articles (01/2022 - 09/2015)
2. Mazen, Inas: 3 articles (01/2022 - 01/2020)
3. McElreavey, Kenneth: 3 articles (01/2022 - 01/2021)
4. Bignon-Topalovic, Joelle: 3 articles (01/2021 - 01/2019)
5. Brauner, Raja: 3 articles (01/2021 - 01/2019)
6. McElreavey, Ken: 3 articles (01/2020 - 09/2015)
7. Jauch, Ralf: 2 articles (01/2021 - 01/2020)
8. Leger, Juliane: 2 articles (01/2021 - 01/2020)
9. Martinerie, Laetitia: 2 articles (01/2021 - 01/2020)
10. Rabah, Raja: 2 articles (10/2020 - 08/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 46,XY Gonadal Dysgenesis:
1. H-Y AntigenIBA
2. Prostaglandins DIBA
3. GD3 ganglioside (GD(3))IBA
4. DNA (Deoxyribonucleic Acid)IBA
5. AndrogensIBA
05/01/2004 - "Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome."
01/01/2022 - "Pediatric patients with 46,XY complete gonadal dysgenesis had a significantly increased risk of developing gonadal tumors and underwent prophylactic gonadectomy as soon as the diagnosis was confirmed, whereas those with Turner syndrome with Y chromosome and 46,XY androgen synthesis/action disorders had a relatively low risk. "
01/01/1998 - "This is a case report of 46 xy gonadal dysgenesis (Swyer-syndrome) with bilateral androgen producing gonadoblastoma in streak gonads in a 15-year-old patient. "
08/18/2017 - "The conditions included were: Turner syndrome (n = 301); 45,X0/46,XY conditions (n = 45); Klinefelter syndrome (n = 218); 47,XYY (n = 1); 46,XY gonadal dysgenesis/ovotestes (n = 63); complete androgen insensitivity (CAIS) (n = 71); partial androgen insensitivity (PAIS) (n = 35) and androgen synthesis disorders (n = 20); severe hypospadias (n = 25); other or non-classified 46,XY DSD (n = 8); 46,XX congenital adrenal hyperplasia (CAH) (n = 226); 46,XX gonadal dysgenesis/ovotestis (n = 21); and 46,XX in males (n = 6). "
06/01/2003 - "During this period, the advances of molecular medicine have provided a better understanding of the etiologies of many of these disorders, including Turner's syndrome; 46,XY gonadal dysgenesis; 46,XX gonadal dysgenesis; hypogonadotropic hypogonadism; enzyme-deficient states; gonadotropin resistance; and androgen insensitivity. "
6. RNA Helicases (RNA Helicase)IBA
7. Hormones (Hormone)IBA
8. Estrogens (Estrogen)FDA Link
9. Transcription Factors (Transcription Factor)IBA
10. SteroidsIBA

Therapies and Procedures

1. Castration
2. Laparotomy
3. Therapeutics
4. Salpingectomy
5. Bone Marrow Transplantation (Transplantation, Bone Marrow)