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

46,XX testicular DSD; 46,XX gonadal dysgenesis; XX male syndrome

Clinical features

• 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

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

• Hypoplasia of the uterus
• Hypoplasia of the vagina
• Micropenis
• Perineal hypospadias
• Scrotal hypoplasia
• Sex reversal
• True hermaphroditism

Diagnosis

• 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

The consequences to the girl with XX gonadal dysgenesis:

1. Her gonads cannot make estrogen, so her breasts will not develop and her uterus will not grow and menstruate until she is given estrogen.
2. This is often given through the skin now.
3. Her gonads cannot make progesterone, so her menstrual periods will not be predictable until she is given a progestin, still usually as a pill.
4. Her gonads cannot produce eggs so she will not be able to conceive children naturally.
5. 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

Gonadal dysgenesis

NIH genetic and rare disease info

• NIH info on XX gonadal dysgenesis

XX gonadal dysgenesis is a rare disease.

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XX Gonadal Dysgenesis

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  Ovary as compared to streak gonad