Mixed Gonadal Dysgenesis

A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
Also Known As:
Gonadal Dysgenesis, Mixed
Networked: 50 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

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


1. Gearhart, John P: 2 articles (10/2008 - 04/2002)
2. Lila, Anurag R: 1 article (07/2015)
3. Kandalkar, Bhuvaneshwari: 1 article (07/2015)
4. Khadilkar, Kranti S: 1 article (07/2015)
5. Shah, Nalini S: 1 article (07/2015)
6. Sanghvi, Beejal V: 1 article (07/2015)
7. Bandgar, Tushar: 1 article (07/2015)
8. Budyal, Sweta R: 1 article (07/2015)
9. Kasaliwal, Rajeev: 1 article (07/2015)
10. Parelkar, Sandesh V: 1 article (07/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mixed Gonadal Dysgenesis:
1. Prostaglandins D (PGD)IBA
2. Testosterone (Sustanon)FDA Link
3. OxidoreductasesIBA
4. Dacarbazine (DIC)FDA LinkGeneric
5. Penis agenesisIBA
6. AnorchiaIBA
7. Steroid 21-Hydroxylase (21 Hydroxylase)IBA
8. Growth Hormone (Somatotropin)IBA
9. DNA (Deoxyribonucleic Acid)IBA
10. 17-Hydroxysteroid Dehydrogenase DeficiencyIBA

Therapies and Procedures

1. Laparotomy
2. Hysterectomy