46,XX Gonadal Dysgenesis

The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
Also Known As:
Gonadal Dysgenesis, 46,XX; Gonadal Dysgenesis, 46, XX; Gonadal Dysgenesis, XX Type; Pure Gonadal Dysgenesis, 46, XX; Pure Gonadal Dysgenesis, 46,XX
Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. 46,XY Gonadal Dysgenesis (Swyer Syndrome)
2. Rare Diseases (Rare Disease)
3. Turner Syndrome (Turner's Syndrome)
4. Hypogonadism (Hypergonadotropic Hypogonadism)
5. Sensorineural Hearing Loss


1. Veerasigamani, Narendrakumar: 1 article (03/2015)
2. Sampathkumar, Geethalakshmi: 1 article (03/2015)
3. Errarhay, S: 1 article (01/2010)
4. Bouchikhi, C: 1 article (01/2010)
5. Bousfiha, N: 1 article (01/2010)
6. Banani, A: 1 article (01/2010)
7. Saadi, H: 1 article (01/2010)
8. Ouldim, K: 1 article (01/2010)
9. Reindollar, Richard H: 1 article (06/2003)
10. Timmreck, Lorna S: 1 article (06/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 46,XX Gonadal Dysgenesis:
1. Untranslated Regions (Untranslated Region)IBA
2. Prostaglandins D (PGD)IBA
3. GonadotropinsIBA
4. Estrogens (Estrogen)FDA Link
5. Gonadal dysgenesis XX type deafnessIBA
6. Rokitansky Kuster Hauser syndromeIBA
7. XXY syndromeIBA