Mixed gonadal dysgenesis (MGD) is a rare genetic disorder that affects sexual development and reproductive function. It is characterized by a combination of both male and female anatomical features and a range of abnormalities in the development of gonads (the reproductive organs). MGD is typically caused by mutations or structural abnormalities in the sex-determining region of the Y chromosome (SRY), which is responsible for the development of male characteristics.
Individuals with MGD often have atypical gonads, which may include streak gonads (underdeveloped gonads), dysgenetic testicles, or ovotestis (gonads with both ovarian and testicular tissue). The presentation of external genitalia can vary, but is often ambiguous or undifferentiated. As a result, affected individuals may have a combination of male and female secondary sexual characteristics. Other associated features may include kidney malformations, skeletal abnormalities, and congenital heart defects.
The clinical manifestations of MGD can vary widely, and the severity of symptoms may also differ among affected individuals. In some cases, individuals may have normal fertility while others may have impaired or absent reproductive capabilities. The condition is typically diagnosed during infancy or early childhood through physical examination, hormone testing, and imaging studies.
Treatment for MGD primarily focuses on addressing associated health issues, correcting hormonal imbalances, and, in some cases, surgical intervention to reconstruct ambiguous genitalia. Psychological support for affected individuals and their families is also important in coping with the complexities of sexual development and any associated emotional challenges.
