2024年10月29日 · Klinefelter syndrome is a genetic condition that occurs before birth, but it often isn't diagnosed until adulthood. Klinefelter syndrome may affect testicular growth. This results in smaller testicles, which can lead to making less of the hormone testosterone.

Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual.

2024年10月28日 · Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. It can affect physical and mental development.

Klinefelter syndrome, also called 47,XXY, is a chromosomal condition that affects male development. The signs and symptoms of Klinefelter syndrome vary. In some cases, the features are so mild that the condition is not diagnosed until puberty or adulthood.

Klinefelter syndrome is a genetic disorder in which males have an additional X chromosome in their genetic code. Most males have 46 chromosomes (packages of DNA). This includes one copy of an X chromosome and one copy of a Y chromosome (46, XY). People with Klinefelter syndrome have a total of 47 chromosomes (47, XXY).

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.

47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature. We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years.

2024年3月29日 · 47,XXY (Klinefelter syndrome) is a chromosomal variation in males where one extra X chromosome is present which then results in a 47,XXY. The extra X chromosome typically affects physical, neurodevelopmental, behavioral and neurocognitive functioning.

2025年3月4日 · XXY syndrome, also known as Klinefelter syndrome (KS), is a genetic condition characterized by the presence of an extra X chromosome (47, XXY). Humans have 22 pairs of numbered chromosomes and one pair of sex chromosomes, resulting in a …

Most cases of Klinefelter syndrome (KS) have 47,XXY karyotype. We reported the first case of 46,XX/47,XXY KS whose genital ambiguity was detected prenatally with postnatal confirmation of the mosaicism and ovotesticular disorder of sex development (OT-DSD).