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.
How do you know if you have gonadal dysgenesis?
Testing is not typically indicated for gonadal dysgenesis unless a diagnosis of gonadal dysgenesis or a syndrome that has gonadal dysgenesis as a symptom is suspected. Most patients with gonadal dysgenesis will begin a necessary workup for their symptoms, including an FSH and LH level and possibly pelvic imaging.
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.
Is gonadal dysgenesis intersex?
Mixed gonadal dysgenesis is an intersex syndrome characterized by a unilateral streak gonad, persistent müllerian duct structures and ambiguous genitalia.
Which of the following are examples of gonadal dysgenesis?
Clinical manifestation include primary amenorrhea, hypergonadotropic hypogonadism, streak gonads, infertility and failure to develop secondary sex characteristics.
What is gonadal streak mean?
Underdeveloped gonads are called “dysgenetic” or “streak” gonads. These gonads may not work or make sex hormones before birth. One or both gonads may also have testis tissue and / or ovary tissue. These gonads may make some hormones.
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.
How do you know if you have Swyer syndrome?
A diagnosis of Swyer syndrome is usually made when young adults are tested for delayed puberty. Molecular genetic testing can determine whether one of the specific gene mutations that are associated with Swyer syndrome is present in an affected individual.
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.
Where are your gonads?
Both men and women have gonads. In males, they are the testes, or testicles, the male sex glands that are part of the male reproductive system. They are located behind the penis in a pouch of skin called the scrotum. The female gonads, the ovaries, are a pair of reproductive glands.
What are the two gonads?
The gonads, the primary reproductive organs, are the testes in the male and the ovaries in the female.
Where are the gonads?
What is XX gonadal dysgenesis?
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.
What causes gonadal dysgenesis in Turner syndrome?
In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development of gonadal dysgenesis.
Can gonadal dysgenesis be diagnosed with a karyotype?
The karyotype reveals XX chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). At this point it is usually possible for a physician to make a diagnosis of XX gonadal dysgenesis.
What are the signs and symptoms of Klinefelter syndrome?
Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and low libido. Often, these symptoms are noticed only at puberty. An estimated 60% of fetuses with Klinefelter syndrome end in miscarriage.