46 XY sex reversal type 2 is a condition that affects sexual development. In 46 XY sex reversal type 2, individuals with male sex chromosomes have female reproductive organs. Girls and women typically have two X chromosomes. Boys and men usually have one X chromosome and one Y chromosome. Individuals with this condition have one X chromosome and one Y chromosome but have female external genitalia and have a functioning uterus and fallopian tubes. However, their ovaries are not functional, instead forming masses of tissue. This tissue can eventually turn cancerous, so is usually removed early in life. Although individuals with this condition have chromosomes that match those of a male (XY), they are often raised as girls.
46 XY sex reversal type 2 is a genetic condition. Each person has two copies of every gene, one from mom and one from dad. The exact cause of the disorder is unknown, but mutations (changes) in several different genes are found in most cases. These genes include SRY, MAP3K1, DHH, and NR5A1. This condition can be inherited in an autosomal dominant, autosomal recessive, or Y-linked pattern depending on which gene is involved in the condition. However, most cases of this condition are not inherited and instead result from new mutations during embryonic development (pregnancy).
Your doctor will look at your history and try to identify characteristic symptoms with a variety of tests. Molecular genetic testing can also determine whether one of the specific genetic mutations that are associated with the disorder is present.
This condition is typically treated with hormonal replacement beginning in the teenage years. The goal of these hormones is to help produce menstruation and other typical female characteristics such as breast enlargement and uterine growth. Some individuals may also need surgery to repair genitalia and enlarge the vagina.
Description Last Updated: Sep 03, 2018