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Xx male syndrome, also known as de la chapelle syndrome or 46,xx testicular disorder of sex development (or 46,xx dsd) is a rare intersex condition in which an individual with a 46,xx karyotype develops a male phenotype Xx males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinization [2][3][4][5][6] in 90 percent of these individuals, the syndrome is caused by the father's y chromosome 's sry gene being atypically included in the crossing over of genetic.
Sex chromosomes are the genetic elements that define a person's biological sex The testis determining factor encoded by the sry gene located on the distal end of the y chromosome is one of the main determining factors of male sex determination of the growing fetus [12]. Learn about the xx and xy chromosomes, the sex determination system, and other chromosome combinations.
A rare disorder where individuals with two x chromosomes develop male characteristics due to sry gene translocation.
Summary the 46, xx male syndrome is a rare sex chromosomal disorder in man [1] It mostly occurs due to unequal crossing over between x and y chromosomes during meiosis [2] A 32 year old xx male with normal male phenotype and normal adrenarchal hair pattern, bilateral atrophic testes, normal phallus presented with azoospermia and infertility. 46,xx male syndrome is an unusual genetic sex reversal condition associated with a male phenotype in an individual with a 46,xx karyotype
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