KLINEFELTER

SYNDROME
PRESENTED BY:- YASHVARDHAN SWAROOP
OVERVIEW

• Klinefelter syndrome is a genetic condition that results when a boy is born with an extra
copy of the X chromosome.
CAUSES

Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. It isn’t an inherited
condition.

Humans have 46 chromosomes, including two sex chromosomes that determine a person’s sex. Females have two X sex chromosomes (XX).
Males have an X and a Y sex chromosome (XY).

Klinefelter syndrome can be caused by:

One extra copy of the X chromosome in each cell (XXY), the most common cause

An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms
• More than one extra copy of the X chromosome, which is rare and results in a severe form
HEALTH ISSUES IN KLINEFELTER SYNDROME

Men with Klinefelter syndrome are at a slightly increased risk of developing other health problems, including:

type 2 diabetes

weak and fragile bones (osteoporosis)

cardiovascular disease and blood clots

autoimmune disorders (where the immune system mistakenly attacks the body), such as lupus

an underactive thyroid gland (hypothyroidism)

anxiety, learning difficulties and depression – although intelligence is usually unaffected

• male breast cancer – although this is very rare
INTELLECTUAL AND PSYCHOLOGICAL
SYMPTOMS OF KLINEFELTER SYNDROME CAN
INCLUDE:
Experiencing depression and anxiety.

Having social and behavioral issues.

Displaying impulsive behaviors and having emotional immaturity.

Experiencing learning disabilities (reading and language differences are common).

Having attention-deficit/hyperactivity disorder (ADHD).

Having speech delay.

Having autism spectrum disorder
KLINEFELTER SYNDROME DIAGNOSIS

Chromosome analysis. Also called karyotype analysis, this blood test looks at
chromosomes.

Hormone tests. These check hormone levels in blood or urine.

Prenatal screening.

Testing of abnormal growth during childhood, puberty or throughout the teen years.
• Testing for fertility issues and low testosterone in adulthood.
MANAGEMENT AND TREATMENT

There’s no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if
necessary.
• Possible treatments include:
• Testosterone replacement therapy
• Occupational therapy to help with any co-ordination problems associated with dyspraxia
• Fertility treatment – options include artificial insemination using donor sperm or possibly intracytoplasmic sperm
injection (ICSI), where sperm removed during a small operation are used to fertilise an egg in a laboratory
• Breast reduction surgery to remove excess breast tissue
• Testosterone replacement therapy
REFERENCES

Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances in the

Interdisciplinary Care of Children with Klinefelter Syndrome. Adv Pediatr. 2016
Aug;63(1):15-46. [PMC free article]
• Hasle H, Mellemgaard A, Nielsen J, Hansen J. Cancer incidence in men with Klinefelter
syndrome. Br J Cancer. 1995 Feb;71(2):416-20. [PMC free article]
• Ross JL, Kushner H, Kowal K, Bardsley M, Davis S, Reiss AL, Tartaglia N, Roeltgen D.
Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with
Klinefelter Syndrome. J Pediatr. 2017 Jun;185:193-199