XY gonadal dysgenesis

XY gonadal dysgenesis is a type of gonadal dysgenesis, a condition characterized by underdeveloped or abnormal development of the gonads, despite having a typical male karyotype of 46,XY. This condition is a form of disorder of sex development (DSD), and is also known as Swyer syndrome.

Causes

XY gonadal dysgenesis is typically caused by mutations in the SRY gene, which is responsible for initiating male sex determination. Other genes that can cause this condition when mutated include NR5A1, MAP3K1, and DHH. These genes are all involved in the development and function of the gonads.

Symptoms and Diagnosis

Individuals with XY gonadal dysgenesis are typically raised as females due to the presence of female external genitalia. However, they do not develop secondary sexual characteristics, such as breast development and menstruation, during puberty. This is due to the lack of functional gonads to produce sex hormones.

Diagnosis of XY gonadal dysgenesis is usually made during adolescence when puberty fails to occur. It can be confirmed through karyotype analysis, which shows a 46,XY pattern, and genetic testing to identify mutations in the SRY gene or other related genes.

Treatment

Treatment for XY gonadal dysgenesis involves hormone replacement therapy to induce the development of secondary sexual characteristics and maintain bone health. In some cases, surgery may be required to remove streak gonads, which have a high risk of developing into gonadoblastoma, a type of cancer.

See also

• Complete androgen insensitivity syndrome
• Turner syndrome
• Klinefelter syndrome