XX male syndrome

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XX male syndrome
File:Human karyotype (259 34) Karyotype Human 46,XX (woman).jpg
Synonyms	De la Chapelle syndrome, 46,XX testicular disorder of sex development
Pronounce	N/A
Specialty	N/A
Symptoms	Hypogonadism, Gynecomastia, Infertility, Ambiguous genitalia
Complications	N/A
Onset	Prenatal
Duration	Lifelong
Types	N/A
Causes	SRY gene translocation
Risks	Infertility, Hormonal imbalance
Diagnosis	Karyotype, Genetic testing
Differential diagnosis	Klinefelter syndrome, Androgen insensitivity syndrome
Prevention	N/A
Treatment	Hormone replacement therapy, Surgery
Medication	N/A
Prognosis	N/A
Frequency	1 in 20,000 to 25,000 male births
Deaths	N/A

File:PBB Protein SRY image.jpg

SRY protein structure

File:Translocation of chromosomes (close-up) illustration.jpg

Translocation of chromosomes illustration

Other Names

46,XX testicular DSD; 46,XX gonadal dysgenesis; XX male syndrome; 46, XX gonadal sex reversal; XX sex reversal See Less 46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, 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. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy.

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 dominantinheritance
• 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.

NIH genetic and rare disease info

• NIH info on XX male syndrome

XX male syndrome is a rare disease.