Guevedoche

Guevedoces is a term originating from the Dominican Republic, used to describe individuals born with a unique intersex condition, more formally known as 5α-Reductase deficiency. This condition is characterized by the inability to convert testosterone into dihydrotestosterone (DHT), a hormone essential for the development of male genitalia in the womb. As a result, individuals with this condition are often assigned female at birth due to the appearance of their genitalia. However, during puberty, the surge in testosterone causes masculinization, including the growth of the penis and testes, and the development of a more typically male body shape.

Causes and Genetics

The condition is caused by mutations in the SRD5A2 gene, which encodes the enzyme 5α-reductase type 2. This enzyme is crucial for the conversion of testosterone into its more potent form, DHT, in certain tissues, including the external genitalia during fetal development. The deficiency in this enzyme leads to underdeveloped male genitalia at birth. Guevedoces is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis and Treatment

Diagnosis of 5α-Reductase deficiency is often made during or after puberty when masculinization occurs, although it can be identified earlier through genetic testing. Treatment varies depending on the individual and may include hormone therapy to support the development of secondary sexual characteristics and psychological support to help with the social and emotional aspects of the condition.

Epidemiology

While cases have been reported worldwide, a notably high incidence of Guevedoces has been observed in certain isolated communities in the Dominican Republic, where the term originated. The condition is also observed in Papua New Guinea and other regions, suggesting a genetic founder effect in these populations.

Cultural and Social Implications

The existence of Guevedoces challenges traditional binary notions of gender and has significant implications for the social and cultural integration of affected individuals. In communities where the condition is more common, there is often a greater acceptance and understanding of the fluidity of gender. However, individuals may still face challenges related to identity, social acceptance, and integration.

See Also

• Intersex
• Androgen Insensitivity Syndrome
• Disorders of Sex Development

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Guevedoche for any updates.

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