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.

Also Known As:

Turner's Syndrome; Bonnevie Ullrich Syndrome; Monosomy X; Status Bonnevie-Ullrich; Ullrich-Turner Syndrome; Status Bonnevie Ullrich; Syndrome, Ullrich-Turner; Turners Syndrome; Ullrich Turner Syndrome; XO Gonadal Dysgenesis; Bonnevie-Ullrich Syndrome; Gonadal Dysgenesis, 45,X; Gonadal Dysgenesis, XO

Urogenital Diseases: 126
- Urogenital Abnormalities: 76
  - Disorders of Sex Development: 730
    - Gonadal Dysgenesis: 516
      - Turner Syndrome: 1740
    - Sex Chromosome Disorders of Sex Development: 3
      - Turner Syndrome: 1740
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 76
      - Disorders of Sex Development: 730
        Gonadal Dysgenesis: 516
        Turner Syndrome: 1740
        Sex Chromosome Disorders of Sex Development: 3
        Turner Syndrome: 1740
- Male Urogenital Diseases
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - Gonadal Dysgenesis: 516
        Turner Syndrome: 1740
      - Sex Chromosome Disorders of Sex Development: 3
        Turner Syndrome: 1740
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Turner Syndrome: 1740
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Turner Syndrome: 1740
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Turner Syndrome: 1740
  - Chromosome Disorders: 136
    - Sex Chromosome Disorders: 5
      - Sex Chromosome Disorders of Sex Development: 3
        Turner Syndrome: 1740
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - Gonadal Dysgenesis: 516
        Turner Syndrome: 1740
      - Sex Chromosome Disorders of Sex Development: 3
        Turner Syndrome: 1740
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Sex Chromosome Disorders: 5
      - Sex Chromosome Disorders of Sex Development: 3
        Turner Syndrome: 1740
Endocrine System Diseases: 968
- Gonadal Disorders: 30
  - Disorders of Sex Development: 730
    - Gonadal Dysgenesis: 516
      - Turner Syndrome: 1740
    - Sex Chromosome Disorders of Sex Development: 3
      - Turner Syndrome: 1740

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