Diseases

Turner Syndrome

A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

See Also

MeSH Record

Synonyms

13 entry terms
  • Turner's Syndrome
  • Ullrich-Turner Syndrome
  • Syndrome, Ullrich-Turner
  • Turners Syndrome
  • Ullrich Turner Syndrome
  • Bonnevie-Ullrich Syndrome
  • Gonadal Dysgenesis, 45,X
  • Gonadal Dysgenesis, XO
  • Monosomy X
  • Status Bonnevie-Ullrich
  • Bonnevie Ullrich Syndrome
  • Status Bonnevie Ullrich
  • XO Gonadal Dysgenesis

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

Indexing Annotation

in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available

MeSH Record

History Note

2002(1963); for BONNEVIE-ULLRICH SYNDROME use SEX CHROMOSOME ABNORMALITIES 1963-2001

MeSH Hierarchy

Tree Numbers

  1. C12.050.351.875w.253w.309w.872w
  2. C12.050.351.875w.253w.795.750w
  3. C12.200.706w.316w.309w.872w
  4. C12.200.706w.316w.795.750w
  5. C12.800w.316w.309w.872w
  6. C12.800w.316w.795.750w
  7. C14w.240.400w.980w
  8. C14w.280w.400w.980w
  9. C16w.131w.240.400w.970w
  10. C16w.131w.260w.830w.835.750w
  11. C16w.131w.939w.316w.309w.872w
  12. C16w.131w.939w.316w.795.750w
  13. C16w.320w.180w.830w.835.750w
  14. C19w.391.119w.309w.872w
  15. C19w.391.119w.795.750w

MeSH Record

NLM Classification

WP 101

AMA Style

References

  1. National Library of Medicine. Turner Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D014424. http://id.nlm.nih.gov/mesh/2026/D014424
  2. Turner Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Turner_syndrome
  3. Turner Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q202849