Cornell Notes Topic/Objective: Cognitive Dysfunction

(Endocrine)
Disease: Klinefelter & Turner Syndrome

Name: Ben
Page(s):

Disease Process/Overview:

Questions:

Notes:

Klinefelter Syndrome

Background:

47,XXY or XXY syndrome is a condition caused by a chromosome

aneuploidy.

Affected individuals have at least two X chromosomes and at least one Y

chromosome.

Effects roughly 1 out of every 500 males

The principal effects are development of small, firm testicles and reduced
fertility.

A variety of other physical and behavioral differences and problems are

common, though severity varies and many boys and men with the
condition have few detectable symptoms.
Manifestations:

Affected males are almost always effectively sterile

language learning impairment may be present, and often deficits in
executive functions.

In adults characteristics vary widely and include:

little to no signs of affectedness,
a tall lanky(long legs short trunk) youthful build, facial appearance. Less
than normal amount of pubic, armpit, and facial hair, small testicles

or a rounded body type with some degree of gynecomastia in 1/3 of cases,

only 10 % require surgical correctionoverweight, and tend to be taller than
their fathers and brothers

not mentally retarded, but most have some degree of language impairment

 Increase risk breast cancer / osteoporosis

injections of the male hormone testosterone, beginning at puberty

Turner Syndrome

Background:

Chromosomal disorder affecting females in which all or part of one of the

X chromosomes is absent.

Occurring in 1 out of every 2500 girls.

Characteristic physical abnormalities: short stature, lymphedema, broad/
shield shaped chest, low hairline, low- set ears, and shorten 4th
metacarpal webbed neck.

Other symptoms may include: small lower jaw (micrognathia), cubitus

valgus (turned-out elbows), palmar crease and drooping eyelids,
horseshoe kidney (a single fused kidney on one side of the body.
Manifestations:
Girls with TS typically experience gonadal dysfunction with subsequent
amenorrhea and infertility.
Concurrent health concerns are frequently present include:

congenital heart disease, (CoArc, VSD, Aortic dissection)

hypothyroidism,
ophthalmological problems,
otological issues resulting in ear infections and hearing loss

Considerations:

The average height of a woman with Turner syndrome, is 4'7

Congenital heart disease must be explored in every female newly
diagnosed with Turner syndrome.

As adults close surveillance of blood pressure is needed to avoid a high

risk of fatal complications due to aortic dissection & rupture.

An abnormal urine-collecting system causing poor blood flow to the

kidneys.

Risk for Osteoporosis due to inadequate production of estrogen

In some, pregnancy is possible by infertility interventions ( donor eggs/
invitro fertilization etc.) however pregnancy may result in an increase risk
of cardiovascular complications for the mother especially an increased risk
for aortic dissection in pregnancy
Physical Characteristics:

Frontal baldness absent

Tendency to grow fewer chest hairs
Breast development
Female type pubic hair pattern
Small testicular size
Poor beard growth
Narrow shoulders
Wide hips
Long arm and legs