What is gonadal dysgenesis?

What is gonadal dysgenesis?

(goh-NA-dul dis-JEH-neh-sis) Abnormal development of a gonad (ovary or testicle). Men with gonadal dysgenesis have a greater risk of developing testicular cancer. Gonadal dysgenesis is usually part of a genetic syndrome.

Is Klinefelter syndrome a gonadal dysgenesis?

They include gonadal dysgenesis (i.e., Turner syndrome, mosaic variants, structural abnormalities of the second sex chromosome, and pure gonadal dysgenesis), polysomies, reversal sex, and Klinefelter syndrome.

What is gonadal dysgenesis in females?

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.

What can gonadal dysgenesis cause?

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 is gonadal dysgenesis diagnosed?

According to these reviews, the diagnosis of XY gonadal dysgenesis is established based on physical examination, hormonal evaluation, imaging studies, genetic studies including karyotype, and gonadal histology (see discussion below and Figures 1 and ​ 2).

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 does Klinefelter syndrome do?

Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue.

How does Klinefelter syndrome occur?

In a typical situation, if an X sperm meets an egg holding an X, the resulting baby will be a female (46, XX). If the sperm holds a Y chromosome when it meets the egg, the resulting baby will be a male (46, XY). Klinefelter syndrome happens when there is an extra X chromosome in the genetic code.

What does gonadal mean?

(gō′năd′) n. An organ in animals that produces gametes, especially a testis or ovary. [New Latin gonas, gonad-, from Greek gonos, procreation, genitals; see genə- in Indo-European roots.]

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 causes Klinefelter syndrome?

Klinefelter syndrome is caused by an additional X chromosome. This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual.

How is Klinefelter’s diagnosed?

Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Chromosome analysis. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape and number of chromosomes.