Two disorders that affect only females are Turner syndrome and conditions resulting from mutations on the mitochondrial genome.
Turner Syndrome
Turner syndrome is a chromosomal condition affecting only females. It occurs when one of the two X chromosomes is missing or incomplete. This leads to a variety of physical and developmental differences. [Source: Mayo Clinic, NHS, Cleveland Clinic]
- Characteristics: Short stature, webbed neck, heart defects, infertility.
- Cause: A missing or incomplete X chromosome.
- Diagnosis: Genetic testing.
Mitochondrial Disorders
Mitochondrial DNA is inherited solely from the mother. Therefore, mutations in mitochondrial genes will only manifest in females and their offspring. While numerous specific mitochondrial disorders exist, the inheritance pattern remains consistent. [Source: MedlinePlus Genetics]
- Characteristics: Vary widely depending on the affected gene. Can affect multiple organ systems.
- Cause: Mutations in mitochondrial DNA.
- Diagnosis: Genetic testing targeting mitochondrial DNA.
It's crucial to note that while some disorders predominantly affect one sex, the possibility of rare exceptions always exists due to complex genetic and environmental factors. Further, many genetic conditions have variable expressivity, meaning symptoms can manifest differently in individuals.
