Gonadal dysgenesis

Turner syndrome

Topic Completed: 1 August 2011

Minor changes: 14 October 2020

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PubMed Search: Turner syndrome [title] ovary

Mohiedean Ghofrani, M.D.
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Cite this page: Ghofrani M. Turner syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumorturners.html. Accessed January 19th, 2022.
Definition / general
  • Describes females with a variety of features (most commonly short stature and gonadal insufficiency) associated with loss of an entire X chromosome (45,X0) in about 50%, mosaicism in 15 - 25% and the rest with loss of only a portion of the X chromosome containing the tip of its short arm
  • Also called Ullrich-Turner syndrome
  • Occurs in about 1:4000 live births
  • Increased frequency in abortuses or women with short stature
  • Haploinsufficiency of genes that are normally expressed by both X chromosomes including:
    • "Short stature homeobox containing gene on the X chromosome" (SHOX) in chondrocytes
    • Lymphatic gene, leading to absence or hypoplasia of lymphatics, which causes lymphedema, cystic hygroma, webbed neck, low posterior hairline, nail dysplasia and lymphedematous hands and feet at birth
    • Multiple genes involved in ovarian function, leading to gonadal dysgenesis and accelerated loss of oocytes at 15 weeks gestation
Clinical features
  • Growth failure: short stature with cubitus valgus (Wikipedia: Cubitus Valgus), genu valgum (Wikipedia: Genu Valgum) and short fourth metacarpals
  • High palate, prominent ears, chronic otitis media, obstructive sleep apnea, increased sensitivity to noise and problems learning how to suck, blow, eat and articulate (Wikipedia: Turner Syndrome)
  • Cardiovascular disease: including bicuspid aortic valve, coarctation of the aorta, partial anomalous pulmonary venous return (PAPVR) and atrial and ventricular septal defects
  • Gonadal failure: have female ducts and external genitalia but usually no pubertal development
  • Learning disabilities: deficits in visuomotor skills, visual spatial skills, visual and working memory, visual attention, executive functions and social skills
  • Associated with nongonadal neoplasms: including atypical polypoid adenomyoma of uterus, endometrial adenocarcinoma, leukemia and soft tissue tumors
  • Diagnosis requires a standard 30 cell karyotype
  • Markedly elevated serum FSH, reduced serum estrogen
Case reports
  • Growth hormone (to increase stature) as soon as growth failure occurs
  • Cardiac imaging (MRI) at diagnosis and repeated in 5 - 10 year intervals to assess for congenital heart abnormalities and the emergence of aortic dilatation (precursor to aortic dissection)
  • Aggressive treatment of hypertension
  • Hormone replacement therapy (transdermal estradiol) beginning at normal pubertal age continued to age 50
  • Routine neuropsychological testing and family support, including special education
  • Also search for hidden Y chromosome mosaicism (J Pediatr Endocrinol Metab 2006;19:1113)
  • Follow up medical care for various conditions in adulthood (Endocr Rev 2002;23:120, J Clin Endocrinol Metab 2010;95:1487)
Clinical images

Images hosted on other servers:

Various images

Microscopic (histologic) description
  • Streak gonad with fibrous tissue resembling ovarian stroma
Molecular / cytogenetics images

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45,X0 karyotype

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