Klinefelter Syndrome

According to Los and Ford (2019), Klinefelter Syndrome also known as KS is the
most common form of aneuploidy. This occurs when a person has an abnormal number
of chromosomes in a cell. This Syndrome occurs mainly to newborn males and has an
estimated prevalence between 1:500 to 1:1000 males. It is not recognized prior to
adulthood and may be diagnosed later. However two-thirds of the cases may go
undiagnosed.

Klinefelter Syndrome is a genetic condition that results when a male is born with
an extra copy of X chromosome. It’s a random error called nondisjunction during cell
division, particularly in Meiosis I. It is important to know that this is not an inherited
condition. Normally, Humans have 46 chromosomes including two sex chromosomes
that are mainly for a person’s sex. Females have 2 X sex chromosomes (XX) and males
have an X and a Y sex chromosome (XY). This Syndrome can be caused by, one extra
copy of the X chromosome in each cell (XXY) which is the most common cause ; An
extra X chromosome in some of the cells – referred to as the Mosaic Klinefelter
Syndrome; this has fewer symptoms. The last one which is rare but results in a severe
form is the more than one extra copy of the X Chromosome. Extra copies of the genes
on the X Chromosome basically interferes with male sexual development and of course,
fertility (Pruthi, 2016).

The signs and complication from infants, boys and teenagers to men would
mainly show weak muscles and bones, slow motor development, delay in speaking,
docile personality , difficulty in expressing taller than average stature, longer legs,
broader hips than that of the other boys, delayed or incomplete puberty, testicles that
have not descendent into the scrotum, , low sperm count or no sperm, small penis, low
sex drive, decreased facial and body hair, enlarged breast tissue and increased belly
fat. This syndrome may also increase the risk of anxiety and depression, osteoporosis,
breast cancer, lung disease, hypothyroidism, autoimmune diseases and tooth problems.
A lot of complications are mostly related to hypogonadism – low testosterone level (O’
Neil, 2013).

According to Nielsen (1991), researchers and scientists are not sure what factors
increase the risk of KS. The non disjunction occurs at random, meaning the error is not
hereditary or passed down from parent to child. Although, research suggests that older
mothers might be slightly more likely to have a son with KS. But, the extra X
chromosome comes from the father about half of the time.

Klinefelter Syndrome is an error in a genetic event so it can’t be prevented but, it

can be treated if diagnosed earlier. Through hormone testing and chromosome
analysis, the doctors will be able to diagnose KS. Although, a small percentage are
diagnosed before birth via the amniotic fluid. Treatments that can be done are the
Testosterone Replacement theraphy, Breast tissue removal, Speech and physical
therapy, Fertility treatment., Educational evaluation and support and the psychological
counselling (Ross, 2017).
BIOCHEMISTRY GROUP 6
NU – 102

Leader: Pamintuan, Aica Dominic L.

Members:

Tayag, Trisha Louise G.

Gonzales, Jorell M.

Mercado, Marjorie

Dabu, Fatima Eren

Mercado Tristine Cayle

Reyteran Johncarlos

References:

Los, E. and Ford, G. (2019). Klinefelter Syndrome. [online] Ncbi.nlm.nih.gov. Available

at: https://www.ncbi.nlm.nih.gov/books/NBK482314/ [Accessed 26 Aug. 2019].

National Human Genome Research Institute. Learning about Klinefelter Syndrome.

Retrieved on June 5, 2012 from http://www.genome.gov/19519068

Nielsen, J., & Wohlert, M. (1991). Chromosome abnormalities found among 34,910
newborn children: Results from a 13-year incidence study in Arhus,
Denmark. Human Genetics, 87(1), 81–83. Available at:
https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/risk

O' Neil, D. (2013). Human Chromosomal Abnormalities: Sex Chromosome

Abnormalities. [online] Www2.palomar.edu. Available at:
https://www2.palomar.edu/anthro/abnormal/abnormal_5.htm [Accessed 26 Aug.
2019].

Pruthi, S. (2016). Klinefelter syndrome - Symptoms and causes. [online] Mayo Clinic.
Available at: https://www.mayoclinic.org/diseases-conditions/klinefelter-
syndrome/symptoms-causes/syc-20353949 [Accessed 26 Aug. 2019].

Ross, J. (2019). Klinefelter Syndrome (for Parents) - KidsHealth. [online] Kidshealth.org.

Available at: https://kidshealth.org/en/parents/klinefelter-syndrome.html
[Accessed 26 Aug. 2019].