XX gonadal dysgenesis
- XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to induce puberty in an otherwise normal girl whose karyotype is found to be 46,XX.
- With nonfunctional streak ovaries, she is low in estrogen levels (hypoestrogenic) and has high levels of FSH and LH.
- Estrogen and progesterone therapy is usually then commenced.
- This syndrome is inherited as an autosomal disease.
- It affects both males and females, but the phenotype differs.
- In both sexes, sensorineural deafness occurs, but in females ovarian dysgenesis also occurs.
Other names[edit | edit source]
46,XX testicular DSD; 46,XX gonadal dysgenesis; XX male syndrome
Clinical features[edit | edit source]
- People with this condition have male external genitalia, ranging from normal to ambiguous.
- Other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone.
- Less often, affected people may experience abnormalities such as undescended testes and hypospadias.
- Gender role and gender identity are normally reported as male.
- This condition may occur if the SRY gene (which is usually found on the Y chromosome) is misplaced onto the X chromosome.
- This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation).
- Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene.
- In some affected people, the underlying cause is unknown.
- In most cases, the condition occurs sporadically in people with no family history of the condition.
Symptoms[edit | edit source]
80%-99% of people have these symptoms
- Ambiguous genitalia
- Decreased testicular size
- Male hypogonadism
- Polycystic ovaries
5%-29% of people have these symptoms
- Ovotestis
- Percent of people who have these symptoms is not available through HPO
- Autosomal dominant inheritance
- Azoospermia
- Bifid scrotum
- Decreased serum testosterone level
Less common symptoms[edit | edit source]
- Hypoplasia of the uterus
- Hypoplasia of the vagina
- Micropenis
- Perineal hypospadias
- Scrotal hypoplasia
- Sex reversal
- True hermaphroditism
Diagnosis[edit | edit source]
- Making a diagnosis for a genetic or rare disease can often be challenging.
- Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis.
- The following resources provide information relating to diagnosis and testing for this condition.
- If you have questions about getting a diagnosis, you should contact a healthcare professional.
Treatment[edit | edit source]
The consequences to the girl with XX gonadal dysgenesis:
- Her gonads cannot make estrogen, so her breasts will not develop and her uterus will not grow and menstruate until she is given estrogen.
- This is often given through the skin now.
- Her gonads cannot make progesterone, so her menstrual periods will not be predictable until she is given a progestin, still usually as a pill.
- Her gonads cannot produce eggs so she will not be able to conceive children naturally.
- A woman with a uterus but no ovaries may be able to become pregnant by implantation of another woman's fertilized egg (embryo transfer).
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
XX gonadal dysgenesis is a rare disease.
XX gonadal dysgenesis Resources | ||
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