XX male syndrome
XX Male Syndrome
XX Male Syndrome, also known as de la Chapelle syndrome (pronounced deh lah shah-PELL), is a rare genetic disorder where an individual with two X chromosomes, typically associated with female sex, develops phenotypically as a male. The condition is named after the Finnish geneticist Albert de la Chapelle, who was a significant contributor to the understanding of this syndrome.
Etymology
The term "XX Male Syndrome" is derived from the presence of two X chromosomes, which is the typical genetic makeup of a female, in a male. The alternative name, "de la Chapelle syndrome", is named after Albert de la Chapelle, a Finnish geneticist who made significant contributions to the understanding of this condition.
Definition
XX Male Syndrome is a condition related to the sex chromosomes. Individuals with this syndrome are genetically female (46, XX), but phenotypically male. This is usually caused by the translocation of a tiny section of the Y chromosome containing the SRY gene (Sex-determining Region Y) onto one of the X chromosomes.
Symptoms
Individuals with XX Male Syndrome often have small testes and may have reduced fertility. Some individuals may also have gynecomastia (enlarged breasts), and a small number may have ambiguous genitalia.
Diagnosis
Diagnosis of XX Male Syndrome is usually made through genetic testing, where the presence of two X chromosomes and the SRY gene can be confirmed.
Treatment
There is no cure for XX Male Syndrome, but treatments can help manage symptoms. For example, testosterone therapy can help promote male secondary sexual characteristics, and surgery can be used to reduce breast size in cases of gynecomastia.
Related Terms
- Klinefelter Syndrome: A condition where males have an extra X chromosome (47, XXY).
- Turner Syndrome: A condition where females have only one X chromosome (45, X).
- Androgen Insensitivity Syndrome: A condition where individuals are genetically male (46, XY), but are resistant to male hormones and have a female phenotype.
External links
- Medical encyclopedia article on XX male syndrome
- Wikipedia's article - XX male syndrome
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