To the best of our knowledge, to date, only four reports are available on patients with Klinefelter syndrome
and an additional sSMC.
(KS): genetics, clinical phenotype and hypogonadism.
Outcomes of 13 ICSI-PGD cycles with ejaculated spermatozoa in patients with Klinefelter syndrome
. Asian J Androl 2016;18:498-9.
The genetic origin of Klinefelter syndrome
and its effect on spermatogenesis.
[15.] Morris JK, Alberman E, Scott C, Jacobs P (2008) Is the prevalence of Klinefelter syndrome
Although IP is mostly a male lethal syndrome, it rarely occurs in males with Klinefelter syndrome
or a genomic mosaicism.
Three weeks later, the pediatrician called Mark and his parents to tell them that the testing revealed that he had Klinefelter syndrome
, or an extra X chromosome in a male.
Individuals with primary hypogonadism due to Klinefelter syndrome
consistently present with lower BMD compared to that of age-matched controls [113-119], though two smaller studies did not demonstrate any difference in BMD [98, 120].
Thus, SHOX haploinsufficiency is associated with short stature (as seen with Turner syndrome), and additional SHOX genes (as seen with sex-chromosome polyploidies such as Klinefelter syndrome
, triple X syndrome, and XYY syndrome) are associated with tall stature .
must be ruled out in cases of gynecomastia or, alternatively, rarer cases of disorders of sexual development.
Birmingham Children's Hospital found he had a strand of Klinefelter Syndrome
only found in 10 other people.
Microspherophakia is usually associated with systemic disorders such as Weill-Marchesani syndrome (WMS), homocystinemia, Marfan syndrome, Alport syndrome and Klinefelter syndrome
. (2,3,4,5,6,7,8,9,10) Less commonly, it has been reported with other disorders such as Lowe syndrome, Peter's anomaly, cri-du-chat syndrome, hyperlysinaemia, and rhizolemic form of chondrodysplasia punctata.