Gonadal Dysgenesis
Gonadal dysgenesis is a condition where the ovaries or testes (gonads) did not develop properly.
What Is Gonadal Dysgenesis?
Gonadal dysgenesis, also known as 46XY gonadal dysgenesis and Swyer syndrome, is a condition where a baby's ovaries or testes (gonads) did not form the right way during pregnancy. Children with gonadal dysgenesis may:
- Go through puberty late.
- Have genitals that don't look normal.
- Make hormones differently.
What Causes Gonadal Dysgenesis?
If certain genes change, it can cause gonadal dysgenesis. It is usually caused by changes in the sex-determining region of the Y chromosome (SRY).
What Are the Signs and Symptoms of Gonadal Dysgenesis?
- Baby is born a different gender than prenatal genetic testing showed
- Genitals did not develop like they should have and don't look male or female (atypical genital appearance)
- Late puberty
- Missed periods (primary amenorrhea)
- Not able to have children (infertile)
How Is Gonadal Dysgenesis Diagnosed?
- Chromosome analysis (karyotype) and other genetic testing
- Hormonal testing
- Pelvic ultrasound and/or MRI
How Is Gonadal Dysgenesis Treated?
- Surgery (laparoscopic bilateral gonadectomy)
- People with dysgenetic gonads are at higher risk for tumors, like gonadoblastoma, dysgerminoma, and choriocarcinoma. These are usually noncancerous (benign).
- The risk for cancer increases with age. Surgery may be recommended to reduce this risk.
- Hormone therapy
- People with gonadal dysgenesis usually need hormone therapy so their body will go through puberty.
- A patient may have estrogen and progesterone replacement or testosterone replacement.
What Should I Expect for My Child With Gonadal Dysgenesis?
Individuals with gonadal dysgenesis will require lifelong hormone replacement therapy. Fertility counseling is also recommended as patients grow older and desire to start a family.
- People with gonadal dysgenesis need hormone replacement therapy for the rest of their life.
- Patients may also need fertility counseling as they get older if they plan on starting their own family.
Why Nationwide Children's?
At Nationwide Children's Hospital, we have a team of members from different departments called Differences of Sexual Development (DSD). We make sure each child's needs are met with a personalized care plan.
We care for your child, from their diagnosis to their treatment and management. We know this can be an overwhelming diagnosis. Each visit is special based on each family's needs, the patient's age, the level of understanding, and symptoms.
Nationwide Children's Hospital is part of the DSD Translational Research Network (DSD-TRN). This is a national network of children's hospitals that work together to improve care for patients with DSD conditions like gonadal dysgenesis.
