About The Medical Condition Gonadal Dysgenesis, 46,XX

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Find the definition of the medical term Gonadal Dysgenesis, 46,XX. Gonadal Dysgenesis, 46,XX defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Gonadal Dysgenesis, 46,XX

Gonadal Dysgenesis, 46,XX Medical Condition Defined & Explained
Gonadal Dysgenesis, 46,XX Medical Condition

What's The Definition Of The Medical Condition Gonadal Dysgenesis, 46,XX?

The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LH and FSH concentration. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XY karyotype (GONADAL DYSGENESIS, 46,XY).

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