Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

5 entry terms
  • Gonadal Dysgenesis, 46, XX
  • Gonadal Dysgenesis, 46,XX
  • Gonadal Dysgenesis, XX Type
  • Pure Gonadal Dysgenesis, 46, XX
  • Pure Gonadal Dysgenesis, 46,XX

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2002

MeSH Record

Previous Indexing

  • Gonadal Dysgenesis (1980-2001)
  • Sex Differentiation Disorders (1966-1979)

MeSH Hierarchy

Tree Numbers

  1. C12.050.351.875w.253w.064w.249w
  2. C12.050.351.875w.253w.309w.193w
  3. C12.200.706w.316w.064w.249w
  4. C12.200.706w.316w.309w.193w
  5. C12.800w.316w.064w.249w
  6. C12.800w.316w.309w.193w
  7. C16w.131w.939w.316w.064w.249w
  8. C16w.131w.939w.316w.309w.193w
  9. C19w.391.119w.064w.249w
  10. C19w.391.119w.309w.193w

AMA Style

References

  1. National Library of Medicine. 46,XX Gonadal Dysgenesis. Medical Subject Headings (MeSH). 2026. Unique ID D023961. http://id.nlm.nih.gov/mesh/2026/D023961
  2. 46,XX Gonadal Dysgenesis. In: Wikipedia. https://en.wikipedia.org/wiki/XX_gonadal_dysgenesis
  3. 46,XX Gonadal Dysgenesis. In: Wikidata. https://www.wikidata.org/wiki/Q8042656