Other Variations

/Other Variations

Klinefelter Syndrome and Other Sex Chromosomal Aneuploidies

The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although [...]

October 28th, 2016|

Clinical research: Extra X impairs awareness of others’ minds

Kate Yandell Published: June 13, 2014 References: 1.) van Rijn S. et al. Genes Brain Behav. Epub ahead of print (2014) 2.) Bishop D.V. et al. Arch. Dis. Child 96, 954-959 (2011) Girls and boys born with an extra X chromosome both tend to have difficulties understanding the minds of others, but for different reasons than children [...]

October 17th, 2016|

Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

Abstract Aim: The aim of this investigation was to ascertain whether an early course of androgen treatment (three injections testosterone enanthate, 25 mg) could have a positive impact on any domains of neurodevelopmental function in boys with 49,XXXXY. Methods: A total of 22 boys with a karyotype of 49,XXXXY participated in a multidisciplinary assessment of neurocognition, [...]

October 17th, 2016|

48,XXYY, 48,XXXY and 49,XXXXY Syndromes: Not Just Variants of Klinefelter Syndrome

Tartaglia, Ayari, Howell, D'Epagnier, Zeitler ePublished: April 9, 2011 ABSTRACT Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. [...]

October 17th, 2016|

What is Intersex?

Organisation Intersex International Published: 2010 INTERSEX is congenital difference in anatomical sex. That is, physical differences in reproductive parts like the testicles, penis, vulva, clitoris, ovaries and so on.  Intersex is also physical differences in secondary sexual characteristics such as muscle mass, hair distribution, breast development and stature.  Intersex can include things that are invisible to the eye such as chromosomal and hormonal differences. [...]

October 14th, 2016|