Genetic Disorders in Females 

Genetic disorders result from changes (mutations) in a person’s DNA.  A genetic disorder is an illness that’s caused by a change (mutation) in the normal sequence of a person’s DNA. Certain types of genetic disorders are exclusive to women, such as Turner syndrome. Also known as congenital ovarian hypoplasia syndrome, this disorder occurs when one of the X chromosomes is either missing or incomplete. 

Causes of Genetic Disorders in Women  

Genetic disorders are caused by a change in normal DNA sequencing, which often occurs in one of two ways: 

  • Someone can inherit a gene mutation from their mother or father. 
  • Someone can develop a gene mutation throughout the course of their life, possibly through environmental exposure to a harmful substance like cigarette smoke or radiation. 

Symptoms of Genetic Disorders in Females 

The symptoms of a genetic disorder will vary depending on the specific type of gene mutation present. Turner syndrome, for example, can cause girls to grow more slowly than their peers and prevent them from experiencing normal sexual development (girls with this disorder may not menstruate or develop breasts).  

Girls with Turner syndrome may also have: 

  • A low hairline at the back of their head 
  • Lazy eyes or drooping eyelids 
  • Low-set ears 
  • A high, narrow palate (roof of the mouth) 
  • A small or receding lower jaw 
  • A wide or webbed neck with extra skin folds 
  • A broad chest 
  • Scoliosis 
  • Arms that point outward at the elbows (cubitus valgus) 
  • A missing knuckle in a finger or toe 
  • Narrow fingernails and toenails 
  • Swelling within their hands and feet 

Diagnosing Genetic Disorders in Women  

Physicians use numerous tests to diagnose genetic disorders, including: 

  • Blood tests
  • Magnetic resonance imaging (MRI) scans 
  • Ultrasounds 
  • Urine tests 
  • X-rays 

Turner syndrome, for instance, is often diagnosed by drawing blood and then performing a genetic test known as a karyotype analysis. 

Treatment for Female Genetic Disorders  

Treatment will depend on the specific type of genetic disorder present, and the specialists at Tampa General Hospital will develop a plan that’s suited to your unique needs. For example, treatment for Turner syndrome often involves: 

  • Cyclic progestin therapy 
  • Estrogen hormone replacement therapy 
  • Human growth hormone (HGH) injections