46XX Testicular Disorder of Sex DevelopmentSymptoms, Doctors, Treatments, Advances & More
46XX Testicular Disorder of Sex Development Overview
Learn About 46XX Testicular Disorder of Sex Development
46,XX testicular difference of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern typically found in females, have a male appearance. People with this condition have male external genitalia. They generally have small testes and may also have other features such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female.
People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male-typical or female-typical sex characteristics. Females usually have two X chromosomes (46,XX), and males usually have one X chromosome and one Y chromosome (46,XY).
Approximately 1 in 20,000 individuals with a male appearance have 46,XX testicular difference of sex development.
SRY-positive 46,XX testicular difference of sex development is almost never inherited. This condition results from the translocation of a Y chromosome segment containing the SRY gene during the formation of sperm (spermatogenesis). Affected people typically have no history of the condition in their family and cannot pass on the condition because they are infertile.
Hospital De Pediatría Prof. Dr. Juan P. Garrahan
Mariana Costanzo practices practicing medicine in Argentina. Ms. Costanzo is rated as a Distinguished expert by MediFind in the treatment of 46XX Testicular Disorder of Sex Development. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Aromatase Deficiency, Intersex, 46XX Testicular Disorder of Sex Development, and Congenital Lipoid Adrenal Hyperplasia.
Maria Touzon practices practicing medicine in Argentina. Ms. Touzon is rated as a Distinguished expert by MediFind in the treatment of 46XX Testicular Disorder of Sex Development. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses 46XX Testicular Disorder of Sex Development, West Syndrome, Aromatase Deficiency, and Intersex.
Andrea Guerra-Maciel practices practicing medicine in Campinas, Brazil. Ms. Guerra-Maciel is rated as a Distinguished expert by MediFind in the treatment of 46XX Testicular Disorder of Sex Development. She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Mixed Gonadal Dysgenesis, Turner Syndrome, Intersex, and Swyer Syndrome.
Published Date: September 28, 2022
Published By: National Institutes of Health