Klinefelter and Turner Syndrome

Turner Syndrome and Klinefelter Syndrome Psychology

Before diving into Klinefelter and Turner Syndrome in psychology, let’s be sure we know what a sex chromosome is.

Chromosomes hold vital genetic information in the form of genes, and they exist throughout the body in the cells. As you may know, humans have 23 chromosomes; typically, a person having either XX chromosomes (female) or XY chromosomes (male) determines their sex.

However, some syndromes can affect these sex chromosomes, causing many issues for those involved, known as atypical sex chromosome patterns (Klinefelter and Turner syndrome).

Although 10% of cases are diagnosed prenatally, two-thirds of people with the condition are unaware they have Klinefelter’s Syndrome. In such cases, a diagnosis is often made due to another health condition.

Individuals with Klinefelter Syndrome show reduced volume in several brain areas, including the amygdala, temporal and frontal regions, hippocampus, and insular cortex. On the other hand, they show increased volume in the sensorimotor and posterior-occipital areas of the brain.

What makes Turner’s Syndrome different?

Fig. 1 Blood testing for DNA is used to diagnose Klinefelter Syndrome and Turner Syndrome.

Turner Syndrome and Klinefelter Syndrome Symptoms

Turner Syndrome and Klinefelter Syndrome symptoms present quite differently from one another.

Klinefelter Syndrome Symptoms

So how exactly does an extra X chromosome affect males? Klinefelter syndrome has physical, psychological, and behavioural symptoms.

Physical Characteristics

• Reduced body hair.

• Slim physique.

• Tall.

• Gynecomastia (breast development at puberty)

• Softening of body contours.

• Broad hips.

• Long limbs.

• Underdeveloped genitals.

• Coordination problems (neuro-dyspraxia).

• Clumsiness.

• More susceptible to typically female illnesses such as breast cancer.

Psychological and Behavioural Characteristics

• Poorly developed reading and language skills.

• Passivity.

• Shyness.

• Lack of interest in sexual activity, infertility.

• Inability to cope with stress.

• Problems with executive functions such as memory and problem-solving.

Turner Syndrome Symptoms

How does a missing X chromosome affect a female? Here are the symptoms of Turner syndrome.

Physical Characteristics

• Amenorrhoea: a lack of menstrual cycle due to their ovaries failing to develop.

• Lack of breast development leaves them with a broad ‘shield’ chest.

• Low-set ears.

• ‘Webbed neck’ (an area of folded skin that goes from the ears to the neck)

• Low waist-to-hip ratio. Hips are not much bigger than the waist.

• Physically immature, appearing prepubescent.

• Shortness.

• Upturned nails

Psychological and Behavioural Characteristics

• Above-average reading ability.

• Reduced spatial, mathematical, and visual memory skills.

• Socially immaturity.

• Difficulty fitting in.

Evaluation of Symptoms

The existence of genetically atypical individuals means we can determine whether gender differences have a genetic basis. We can compare these individuals with chromosome-typical people. If we see psychological or physical differences between the two groups, we can infer this results from genetic differences.

Another important note is that the differences between people with atypical and typical chromosome patterns are not causal. Therefore, other factors could influence this, such as environmental or social influences.

Therefore, it is wrong to assume that all the symptoms associated with both syndromes are purely a result of atypical chromosome patterns, as the environment could influence them.

Klinefelter’s Syndrome Treatment

Unfortunately, Klinefelter’s Syndrome has no cure. However, physicians may focus on reducing the symptoms and effects of associated conditions using techniques and treatments such as:

• Testosterone Replacement Therapy

• Occupational Therapy

• Physiotherapy

• Educational and behavioural support

• Breast reduction therapy

Let’s look at what a few of these treatments might look like.

Testosterone Replacement Treatment (TRT)

Especially during adolescence, testosterone plays a crucial role in development as it’s known to help organise the brain and behaviour. Boys diagnosed with Klinefelter syndrome who underwent testosterone replacement treatment with low doses of androgen showed improvements in social functioning, visual-motor functioning, and anxiety.

TRT has also been associated with increasing hippocampal size and reducing depressive symptoms.

Fig. 2 Testosterone replacement therapy is often administered by injection.

Occupational Therapy

Neuro-dyspraxia is a unique symptom that can occur for some individuals with Klinefelter syndrome.

Occupational therapy is a common way of treating this particular condition. Klinefelter syndrome patients with this condition undergo rehabilitation with an occupational therapist who walks them through various exercises.

Klinefelter’s Syndrome Life Expectancy

Can Klinefelter’s Syndrome impact a person’s life expectancy? Sadly, it can -- but not by much. Mortality rates of men with this diagnosis are 50% higher than the average male. Still, one can expect the Klinefelter syndrome life expectancy to be around 2-5 years old shorter than the average male.

The leading causes of death associated with Klinefelter’s Syndrome are:

• Cerebrovascular disease.

• Subarachnoid haemorrhage.

• Carcinoma of the breasts.

• Aortic valve disease.

Interesting Facts About Turner Syndrome

Here are a few more interesting facts about Turner syndrome.

1 in 2000 girls will be diagnosed with Turner syndrome. Women with Turner syndrome often have fertility issues. And while spontaneous pregnancies may happen, they often carry major risks.

Similar to Klinefelter syndrome, Turner syndrome does not have a cure. Rather than receiving TRT like those with Klinefelter syndrome, women with Turner syndrome often undergo estrogen replacement therapy. They may also receive growth hormones to aid in increasing their short stature.