What is the pathogenesis of Turner syndrome?

Updated: Jan 08, 2019
  • Author: Kristi A Tough DeSapri, MD; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
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Answer

Gonadal dysgenesis is characterized by the congenital loss or underdevelopment of germ cells within the gonad during organogenesis. The gonads usually contain only fibrous tissue and are called streak gonads. In females, the most common form of gonadal dysgenesis is Turner syndrome (45,X), in which gonadotropin levels, especially the FSH levels, are high during early childhood and after age 9-10 years.

Additional anomalies associated with Turner syndrome include short stature, webbed neck, coarctation of the aorta (10%), renal abnormalities (50%), hypertension, pigmented nevi, short forth metacarpal and metatarsals, Hashimoto thyroiditis, obesity, and osteoporosis. [3] Depletion of ovarian follicles causes amenorrhea.


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