What is partial gonadal dysgenesis?
What is partial gonadal dysgenesis?
Introduction 46, XY partial gonadal dysgenesis (PGD) is a disorder of sex development characterised by an incomplete testicular development (dysgenetic gonad) which results in incomplete virilisation of external genitalia in utero and partial involution of Müllerian ducts in individuals whose karyotype is 46,XY.
How common is XY gonadal dysgenesis?
Affected Populations Swyer syndrome affects girls who have an XY chromosomal makeup, no ovaries, but functional female organs including the uterus, fallopian tubes and vagina. The exact incidence is unknown. One estimate placed the incidence at 1 in 80,000 births.
What is XY gonadal dysgenesis?
XY gonadal dysgenesis (GD) is a result of abnormal testis development in utero. There are three types of GD, pure (or complete), partial, or mixed, all of which can be differentiated by the extent of normal testicular tissue within the gonad and karyotype of the individual.
What is 46,XY male karyotype?
Summary. A 46, XY disorders of sexual development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female.
What are symptoms of gonadal dysgenesis?
Clinical manifestation include primary amenorrhea, hypergonadotropic hypogonadism, streak gonads, infertility, and failure to develop secondary sex characteristics.
What is treatment for gonadal dysgenesis?
Patients with mixed gonadal dysgenesis receive hormone replacement therapy depending on their gender. Males need treatment depending on level of testicular insufficiency. To prevent the development of malignancy in patients with XY gonadal dysgenesis, gonadectomy typically is recommended.
What is the cause of gonadal dysgenesis?
Pure 46, XX gonadal dysgenesis is typically caused by alterations to genetic information needed for ovarian development, present at the proximal Xp, and distal Xq regions of the X chromosome. These alterations include gene translocations, deletions, and mutations.
What does abnormal male karyotype mean?
If your results were abnormal (not normal,) it means you or your child has more or fewer than 46 chromosomes, or there is something abnormal about the size, shape, or structure of one or more of your chromosomes. Abnormal chromosomes can cause a variety of health problems.
What causes gonadal dysgenesis?
How is gonadal dysgenesis diagnosed?
Similar to Turner syndrome, testing is also indicated for 46 XY complete gonadal dysgenesis when clinical findings suspect the diagnosis. A patient with delayed puberty or amenorrhea that has elevated basal LH and FSH levels and other causes for amenorrhea and delayed puberty ruled out can have a karyotype performed.
Do all males have XY chromosomes?
Typically, biologically male individuals have one X and one Y chromosome (XY) while those who are biologically female have two X chromosomes. However, there are exceptions to this rule. The sex chromosomes determine the sex of offspring.
What causes chromosomal abnormalities in sperm?
Chromosome abnormalities often happen due to one or more of these: Errors during dividing of sex cells (meiosis) Errors during dividing of other cells (mitosis) Exposure to substances that cause birth defects (teratogens)
What does it mean when a male has an extra Y chromosome?
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. There are usually few symptoms. These may include being taller than average, acne, and an increased risk of learning disabilities.
What does XY mean in baby gender?
Biological sex in healthy humans is determined by the presence of the sex chromosomes in the genetic code: two X chromosomes (XX) makes a girl, whereas an X and a Y chromosome (XY) makes a boy. In this way, it is the presence or absence of the Y chromosome in a healthy human that differentiates boy from girl.