SNP Shot: Genomic Insights

Müllerian aplasia and hyperandrogenism is a condition impacting female reproductive health. It arises from atypical development of the Müllerian ducts during embryonic stages. These ducts are responsible for forming the uterus, fallopian tubes, cervix, and upper vagina. Individuals with this condition typically exhibit an underdeveloped or absent uterus, and potentially other reproductive organ abnormalities. While external female genitalia are normal, and breast and pubic hair development occurs as expected during puberty, menstruation does not begin by age 16 (primary amenorrhea), and menstrual periods are unlikely to ever occur. Consequently, affected women are infertile, unable to conceive.

Hyperandrogenism, characterized by elevated levels of male hormones (androgens) in the blood, is also a feature of this condition. This hormonal imbalance can lead to acne and excessive facial hair growth (hirsutism). Some individuals may also have kidney abnormalities.

Inheritance:

The inheritance pattern for this condition is autosomal dominant. This means that only one copy of the mutated gene in each cell is enough to cause the disorder. Since women with Müllerian aplasia and hyperandrogenism are infertile, affected daughters do not inherit the gene from their mothers. It is currently unclear whether the mutation is inherited from the father or arises from a new spontaneous mutation. Müllerian aplasia and hyperandrogenism can occur even with no prior family history of the condition.