Güevedoce

Güevedoce

Güevedoce is a term used in the Dominican Republic to describe individuals who are born with a condition known as 5-alpha-reductase deficiency. This condition is a form of intersex variation where individuals are genetically male (46,XY) but are born with ambiguous genitalia or female-appearing genitalia. The term "Güevedoce" translates to "penis at twelve," reflecting the common occurrence of these individuals developing male secondary sexual characteristics, including the growth of a penis, around the onset of puberty.

Genetic and Biological Basis

Güevedoce individuals have a genetic mutation affecting the enzyme 5-alpha-reductase, which is crucial for the conversion of testosterone into dihydrotestosterone (DHT). DHT is a potent androgen responsible for the masculinization of the external genitalia in utero. In the absence of sufficient DHT, individuals with 5-alpha-reductase deficiency are born with underdeveloped male genitalia.

5-Alpha-Reductase Deficiency

5-alpha-reductase deficiency is an autosomal recessive condition, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to express the condition. The gene responsible for this condition is SRD5A2, located on chromosome 2. Mutations in this gene lead to reduced or absent activity of the 5-alpha-reductase enzyme.

Clinical Presentation

At birth, individuals with this condition may be misidentified as female due to the appearance of their external genitalia. However, they typically have undescended testes and a small phallus, which may be mistaken for a clitoris. The urethral opening may be located at the base of the phallus or along its shaft, a condition known as hypospadias.

Pubertal Changes

At puberty, individuals with 5-alpha-reductase deficiency experience a surge in testosterone levels, which can lead to the development of male secondary sexual characteristics. These changes include:

• Growth of the phallus
• Deepening of the voice
• Increased muscle mass
• Development of facial and body hair

Despite these changes, individuals may have sparse facial hair and may not develop significant acne, as DHT is also involved in these processes.

Cultural and Social Aspects

In the Dominican Republic, the condition is relatively well-known in certain communities, and individuals with this condition are often accepted as males after puberty. The term "Güevedoce" reflects the cultural understanding and acceptance of this intersex variation.

Diagnosis and Management

Diagnosis of 5-alpha-reductase deficiency can be confirmed through genetic testing to identify mutations in the SRD5A2 gene. Hormonal assays may also be conducted to assess levels of testosterone and DHT.

Management

Management of individuals with 5-alpha-reductase deficiency is individualized and may include:

• Psychological support and counseling
• Hormone replacement therapy, if desired
• Surgical intervention to address hypospadias or other genital anomalies

See Also

• Intersex
• Androgen Insensitivity Syndrome
• Sexual Differentiation

References

• Imperato-McGinley, J., et al. (1974). "Steroid 5-alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism." Science.
• Wilson, J. D., & Griffin, J. E. (1980). "The use and misuse of androgens." Metabolism.