XX gonadal dysgenesis
XX Gonadal Dysgenesis
XX gonadal dysgenesis (pronunciation: eks eks goh-nad-uhl dis-je-nes-is) is a type of gonadal dysgenesis, a condition characterized by underdeveloped or abnormal development of the gonads.
Etymology
The term "gonadal dysgenesis" is derived from the Greek words "gonos" (meaning seed) and "genesis" (meaning origin). The prefix "XX" refers to the normal sex chromosomes in females.
Definition
XX gonadal dysgenesis is a congenital disorder that affects the development of the gonads in individuals with two X chromosomes. This condition is also known as Swyer syndrome or 46,XX testicular/ovotesticular disorder of sex development (46,XX TDSD/OTDSD).
Symptoms
Individuals with XX gonadal dysgenesis typically present with primary amenorrhea, lack of secondary sexual characteristics, and infertility. They may also have an increased risk of developing gonadoblastoma, a rare form of gonadal tumor.
Diagnosis
Diagnosis of XX gonadal dysgenesis is typically made through karyotyping, a test that examines the number and structure of an individual's chromosomes. Additional diagnostic tests may include hormone level assessments and imaging studies of the reproductive organs.
Treatment
Treatment for XX gonadal dysgenesis often involves hormone replacement therapy to induce the development of secondary sexual characteristics. In some cases, surgical removal of the streak gonads may be recommended to prevent the development of gonadoblastoma.
Related Terms
External links
- Medical encyclopedia article on XX gonadal dysgenesis
- Wikipedia's article - XX gonadal dysgenesis
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