What can gonadal dysgenesis cause?

What can gonadal dysgenesis cause?

Gonadal Dysfunction Gonadal dysgenesis caused by chromosomal abnormalities is the most common cause of primary amenorrhea in young women, accounting for approximately 50% of cases. The most common of these chromosomal abnormalities is Turner’s syndrome, in which a woman is missing an X chromosome (45, X).

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.

What is gonadal dysgenesis?

Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female. It is the atypical development of the gonads in an embryo, with reproductive tissue replaced with functionless, fibrous tissue, termed streak gonads.

How does Turner syndrome occur?

Turner Syndrome occurs when one of the X chromosomes is missing, either partially or completely. Turner syndrome often causes short stature, typically noticeable by age 5. It usually doesn’t affect intelligence but can lead to developmental delays especially with calculations and memory. Heart problems are common, too.

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 does phenotypically XY mean?

Phenotypic sex refers to an individual’s sex as determined by their internal and external genitalia, expression of secondary sex characteristics, and behavior.

How often does mixed gonadal dysgenesis occur?

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.

Which is the most common karyotype for mixed gonadal dysgenesis?

Mixed gonadal dysgenesis refers to asymmetric gonadal dysgenesis with ambiguous genitalia (see Fig. 97.7) and a mosaic karyotype with an XY cell line. The most common karyotype is 45,X/46,XY. There is a wide spectrum of phenotypes, ranging from a female with clitoral enlargement to a male with hypospadias.

Is it possible to remove a dysgenetic gonad?

In addition, the dysgenetic gonad is at risk for development of a tumor and should be removed, particularly if the gonad cannot be brought down into the scrotum (Forest, 2001). However, sex assignment is likely to be guided by the degree of virilization, with the more virilized cases being assigned as males.

Are there fallopian tubes on the side of the streak gonad?

Fallopian tubes are always found on the side of the streak gonad and often on the side with the dysgenetic gonad. Wolffian structures may be developed on the side with the dysgenetic gonad. A genitourethrogram is likely to demonstrate internal müllerian structures that can be confirmed at laparoscopy.

What can gonadal dysgenesis cause? Gonadal Dysfunction Gonadal dysgenesis caused by chromosomal abnormalities is the most common cause of primary amenorrhea in young women, accounting for approximately 50% of cases. The most common of these chromosomal abnormalities is Turner’s syndrome, in which a woman is missing an X chromosome (45, X). How common is mixed…