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What is 46,XY?

What is 46,XY?

A 46, XY disorder of sex 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 causes Turner syndrome 45 X0?

Overview. Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing.

Is XO a Turner syndrome?

Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partially or completely missing an X chromosome. Signs and symptoms vary among those affected.

How is Swyer syndrome diagnosed?

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.

What does XO chromosome mean?

Definition. XO syndrome is a disorder of the sex chromosomes, occurring in females, in which one of the two X chromosomes is completely or partially absent. XO syndrome causes a number of symptoms that vary greatly among individuals, but generally include small stature, amennorhea and infertility.

What gender is Swyer syndrome?

People with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue.

Will a patient with Swyer syndrome have pubic hair?

Swyer syndrome patients are normal-to-tall, present with small or undeveloped breasts, with normal axillary and pubic hair development. The external genitalia are typical of females. Upper part of the vagina and tubes are normal or reduced, and the uterus is small or rudimentary.

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