Table of Contents
Is gonadal dysgenesis inherited?
46, XX complete gonadal dysgenesis is inherited in an autosomal recessive pattern, and several loci and genes have been implicated; however, the exact intricacies of what causes this type of gonadal dysgenesis is unclear.
What is gonadal dysgenesis?
Gonadal dysgenesis, or Turner syndrome (TS), is a condition characterized by short stature and ovarian dysgenesis. Patients are females with either a missing X chromosome (45 XO) or an abnormality of one of the X chromosomes. It occurs in 1 in 2000 to 1 in 5000 female live births.
What is treatment for gonadal dysgenesis?
Besides of removal of gonads or tumors by surgery, the treatment of patients with 46XY karyotype consists in cyclic administration of estrogens and progestagens restoring menstruation and bringing development of secondary sex attributes.
What are symptoms of gonadal dysgenesis?
Gonadal dysgenesis is characterized by Turner’s syndrome in which women preset with an XO karyotype, short stature (mean adult height 141 + 0.6 cm), primary amenorrhea, streak gonads, and sexual infantilism.
How do you test for gonadal dysgenesis?
Testing may include:
- Karyotype – This is a blood test that looks at a person’s chromosomes, including the X and Y chromosomes.
- Hormone levels – This is a blood test to check what hormones the gonads are making and how much.
- Pelvic ultrasound – This is an imaging test that looks for the gonads and for a uterus.
How common is mixed gonadal dysgenesis?
Mixed gonadal dysgenesis, a frequent cause of sexual ambiguity, occurs in approximately 1 in 20,000 births. The karyotype is usually mosaic 45,X/46,XY. Gonadal pathologic features can vary from fibrous streaks indistinguishable from those in Turner’s syndrome to normally developed testes and a normal male phenotype.
Can people with gonadal dysgenesis get pregnant?
A patient with 46, XY gonadal dysgenesis in a specially tailored fertility program, can maintain a normal pregnancy and delivery.
What is true hermaphroditism?
True hermaphroditism (TH) refers to individuals who have both unequivocal ovarian tissue and testicular elements regardless of their karyotypes; whereas mixed gonadal dysgenesis (MGD) refers to individuals who usually have a differentiated gonad on one side and a streak gonad or streak testis on the other side.