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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: 66 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Related Diseases

1. Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
2. 46,XY Gonadal Dysgenesis (Swyer Syndrome)
3. Androgen-Insensitivity Syndrome (Testicular Feminization)
4. Gonadal Dysgenesis (Gonadal Agenesis)
5. Ovotesticular Disorders of Sex Development

Experts

1. Andrade, Juliana G R: 2 articles (01/2020 - 01/2019)
2. Dos Santos, Ana P: 2 articles (01/2020 - 01/2019)
3. Fabbri-Scallet, Helena: 2 articles (01/2020 - 01/2019)
4. Maciel-Guerra, Andrea T: 2 articles (01/2020 - 01/2019)
5. Finlayson, Courtney: 2 articles (01/2019 - 01/2017)
6. Johnson, Emilie K: 2 articles (01/2019 - 01/2017)
7. Reiner, William G: 2 articles (06/2005 - 12/2004)
8. Aurelien, S M: 1 article (12/2021)
9. Boniface, M: 1 article (12/2021)
10. Dahoun, S: 1 article (12/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mixed Gonadal Dysgenesis:
1. AndrogensIBA
2. Prostaglandins DIBA
3. Growth Hormone (Somatotropin)IBA
4. dichlorobis(azomycin)platinum IIIBA
5. Testosterone (Sustanon)FDA Link
6. Dacarbazine (DIC)FDA LinkGeneric
7. Oxidoreductases (Dehydrogenase)IBA
03/01/2019 - "There are various causes of primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis. "
09/01/2010 - "Accordingly, they were classified into 4 groups: (1) sex chromosome aneuploid DSD (mixed gonadal dysgenesis) and (2) disorders of gonadal development (gonadal dysgenesis); (3) androgen biosynthesis defect (5alpha-reductase deficiency, 17beta-hydroxysteroid dehydrogenase deficiency), and (4) defect in androgen action (androgen insensitivity syndrome). "
10/01/2021 - ": AIS: Androgen Insensitivity Syndrome; AMH: Anti-Müllerian Hormone; ART: Assisted Reproductive Technology; ASRM: American Society for Reproductive Medicine; CAH: Congenital Adrenal Hyperplasia; CAIS: Complete Androgen Insensitivity Syndrome; DHT: Dihydrotestosterone; DSD: Disorders of Sexual Development; FSH: Follicle Stimulating Hormone; GD: Gonadal Dysgenesis; ICSI: Intracytoplasmic Sperm Injection; IUGR: Intrauterine Growth Restriction; IVF: In Vitro Fertilization; IVF-ET: IVF and Embryo Transfer; LH: Luteinizing Hormone; MGD: Mixed Gonadal Dysgenesis; MRI: Magnetic Resonance Imaging; MRKH: Mayer-Rokitansky-Kuster-Hauser; US: Ultrasonography; HSG: Hysterosalpingography; PAIS: Partial Androgen Insensitivity Syndrome; PGD: Preimplantation Genetic Diagnosis; POR: P450 Oxidoreductase; PROM: Premature Rupture of Membranes; TS: Turner Syndrome; 17β-HSD III: 17β-Hydroxysteroid Dehydrogenase III; 21-OHD: 21-hydroxylase deficiency; 5α-RD-2: 5α-reductase-2."
8. Cholestenone 5 alpha-Reductase (5 alpha-Reductase)IBA
9. SteroidsIBA
10. Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA

Therapies and Procedures

1. Castration
2. Laparotomy
3. Estrogen Replacement Therapy
4. Hysterectomy