Gonadal Dysgenesis, 46,XX

Overview

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 LUTEINIZING HORMONE and FSH concentration.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Gonadal Dysgenesis, 46,XX

Topic type

Condition

Category

Urology / Fertility

MeSH classification

C12.050.351.875.253.064.249|C12.050.351.875.253.309.193|C12.200.706.316.064.249|C12.200.706.316.309.193|C12.800.316.064.249|C12.800.316.309.193|C16.131.939.316.064.249|C16.131.939.316.309.193|C19.391.119.064.249|C19.391.119.309.193

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