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XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
The XX/XY sex-determination system is the most familiar, as it is found in humans. The XX/XY system is found in most other mammals, as well as some insects. In this system, females have two of the same kind of sex chromosome (XX), while males have two distinct sex chromosomes (XY).
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present).
46,XX/46,XY is an example of tetragametic chimerism because it requires four gametes – two sperm and two ova. 46,XX/46,XY is most commonly explained during in conception combination of two fertilized eggs zygotes. Two ova from the mother are fertilized by two sperm from the father. One sperm contains an X chromosome; the other contains a Y ...
In humans, the presence of the Y chromosome is responsible for triggering male development; in the absence of the Y chromosome, the fetus will undergo female development, except with various exceptions such as individuals with Swyer syndrome, that have XY chromosomes and a female phenotype, and de la Chapelle Syndrome, that have XX chromosomes ...
46,XX testicular disorder of sex development, also called XX male syndrome, is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia.
48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). 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 or female sex characteristics.
The common pathway of sexual differentiation, where a productive human female has an XX chromosome pair, and a productive male has an XY pair, is relevant to the development of intersex conditions. During fertilization, the sperm adds either an X (female) or a Y (male) chromosome to the X in the ovum. This determines the genetic sex of the embryo.