Among the 66.7% of chromosomally abnormal 3PN embryos, all of them were 69, XXY
, and 13.3% of them showed mosaicism.
Some intersex conditions are known to run in families, though that's rare for XXY
chromosomes, said Dr.
Klinefelter and variants###*LH receptor defect###*Partial gonadal dysgenisis###*Partial###*Testicular DSD
Patients with Klinefelter syndrome (47, XXY
), which is a germline chromosomal abnormality, rarely develop TGCT.
The trisomy (47, XXY
) corresponds to 80-90% of cases, being considered the most common sexual chromosomopathy, even though there are also tetrasomies (48, XXXY or 48, XXYY) and even pentasomies (49, XXXXY) .
Chromosomal analysis of the patient indicated 47, XXY
, while his parents had normal karyotypes.
It is the most common aberration of sex chromosome after Klinefelter syndrome (47, XXY
),, as found in 1 out of 1000 male live births. The 47, XYY syndrome could show different influences on men's sperm counts, ranging from normal to even azoospermia. For those who have difficulty achieving pregnancy, the treatment of in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) with medical genetics counseling seems to be a good choice.
Indeed, early diagnosis is essential to address age-specific challenges with timely treatment and rehabilitation to minimize the problems that patients with XXY
face with and to mitigate some of the complications seen in late diagnosed cases.
The sex chromosome DSD includes 45, X (Turner syndrome and variants), 47, XXY
(Klinefelter syndrome and variants), 45, X/46, XY (mixed gonadal dysgenesis), and individuals with mosaic 46, XX/46, XY cell lines (1).
In the present study, Klinefelter syndrome was found in 80 patients (71 patients had the homogeneous chromosomal formula (47 XXY
) and 9 patients had the mosaic karyotype (46 XY/47 XXY
y eds.), Mercados en comun: estudios sobre conexiones transnacionales, negocios y diplomacia en las Americas (siglos xxy
XX), El Colegio de Mexico, Mexico, 2016, 698 pp.
Note that [??] separates the points of XxY
since A separates the points of Y and B separates the points of X.