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Difference Between Turner Syndrome and Klinefelter Syndrome

Last updated date: 09th Apr 2024
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Chromosomal Aberration

A syndrome is a term used to describe a medical condition with various signs and symptoms associated with a particular disease or disorder. With increasing age and decreasing immunity, humans tend to get affected by diseases and disorders. There are various disorders that are distinct in males and females that cannot be cured by medicines.

Turner syndrome and Klinefelter syndrome are among them that occur in males and females respectively and are caused due to the absence or presence of an extra chromosome.

Genes are important because during pregnancy they are passed from parent to child making each of us unique. Chromosomes are responsible for making each of us different in other words they make you which is why having the correct number of chromosomes is very important for having a successful pregnancy.

Turner Syndrome in Females

If your embryo does not have the correct number of chromosomes any of the chromosomes are missing then your baby may fail to develop completely leading to any disorder.

Turner Syndrome also known as Congenital Ovarian Hypoplasia Syndrome is a genetic disorder that occurs in females. In this condition, a sex chromosome X is completely missing or partially.

Congenital is a term used to describe a person who is born with the disease.

A female is born with two X chromosomes and a male is born with one X and one Y chromosome.

There are three types of Turner Syndrome depending on the problem associated with the X chromosome.

  • Monosomy X: In this type, each cell has only one X chromosome instead of two. It is derived either from a mother's egg or a father's sperm forming randomly without an X chromosome. About 45% of the people having this syndrome have Monosomy X type. When fertilisation will take place the baby will bear this defect.

  • Mosaic Turner Syndrome: This type includes about 30% of the Turner Syndrome cases. In this type, some of the baby cells have only one chromosome while the others have a pair of chromosomes. This takes place during cell division in early pregnancy.

  • Inherited Turner Syndrome: In this type, the baby has inherited Turner Syndrome which means their parent was born with it and passed it on.


  • Short stature

  • Delayed puberty

  • Breast development

  • May not experience menstrual cycle

  • Smaller ovaries

  • Not enough sex hormones

  • Broad Chest

  • Cubitus valgus

  • Drooping eyelids

  • Dental problems

  • Low hairline


  • Heart Problems: There's a higher risk of infants born with Turner Syndrome to develop heart-related abnormalities which include high blood pressure, problems with the supplying of the oxygen-rich blood to the body. These may increase the rate of serious complications.

  • Hearing Loss: Due to the loss of nerve function, hearing loss is quite common in Turner Syndrome.

  • Pregnancy Complications: Since cardiovascular diseases are associated with turner syndrome, women during pregnancy can develop a serious condition that can affect both mother and the child. It is advisable to consult a cardiologist and a highly skilled pregnancy doctor to prevent any complications.


There is no cure developed for turner syndrome as such, but there are therapies related to growth hormone therapy and estrogen therapy.

Klinefelter Syndrome in Males

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

Males with a normal number of chromosomes have the typical XY chromosomes, whereas Klinefelter syndrome people have XXY chromosomes with an extra copy of the X chromosome.In Klinefelter syndrome chromosome number is increased as there is extra X chromosome.

The additional sex chromosome is a result of a random error in the formation of sperm or the egg.

Types of Klinefelter Syndrome

  • The most common type is an extra X chromosome in every cell.

  • An extra X chromosome in only some cells which is also called mosaic Klinefelter.

  • More than one extra X chromosome, which is the very rare and more severe type.


  • Weak muscles, delay in speaking

  • Small testicles and penis

  • Low sperm count or none at all

  • Low energy levels

  • Incomplete puberty

  • Less facial hair

  • Less muscular body

Risk factors

Since Klinefelter syndrome is associated with the chromosome number, it is likely to affect the growth of the sex organs which includes testicular growth, low production of testosterone.


  • Anxiety, depression, low self-esteem

  • Cardiovascular problems such as high blood pressure, type 2 diabetes, hyperlipidemia, heart disease, abnormalities in blood vessels

  • Infertility

  • Lung disease

  • Breast Cancer

  • Autoimmune disorders

  • Dental problems


The different types of treatment for Klinefelter Syndrome are as follows:

  • Fertility treatment.

  • Psychological counseling.

  • Removal of excess breast tissue.

  • Hormonal Replacement Therapy.

  • Support and Educational evaluation.

  • Testosterone Replacement Therapy.

Difference Between Turner Syndrome and Klinefelter Syndrome

Turner Syndrome

Klinefelter Syndrome

A syndrome that occurs in females in which a sex chromosome X is completely or partially missing.

A syndrome that occurs in males in which they are born with an extra copy of a chromosome.

Turner syndrome chromosome number- There are in total 45 chromosomes present.

Klinefelter chromosome number- There are in total 47 chromosomes present.

Caused due to monosomy of the X chromosome.

Caused due to trisomy of the X chromosome.

Turner syndrome takes place during birth.

Klinefelter syndrome takes place during adolescence.

Smaller ovaries, Not enough sex hormones, Broad Chest, Cubitus valgus, Drooping eyelids, Dental problems, Low hairline

Weak bones, taller height, enlarged breast tissue, increased body hair, and small penis or testis are the signs and symptoms of Klinefelter syndrome.

Interesting Facts

  • In cell division, the chromosomes are divided first which takes place in two different ways, Mitosis and Meiosis.

  • All humans have 46 chromosomes which are known as the diploid human number.

Important Questions

1. How many chromosomes are present in Turner and Klinefelter syndrome?

Ans: In turner syndrome, since the chromosome is missing it has 45 chromosomes whereas in Klinefelter syndrome males are born with an extra copy of chromosomes with a total of 47 chromosomes.

2. What are the major disorders of turner and Klinefelter syndrome?

Ans: The major disorders of turner include cardiovascular problems such as high blood pressure, increased heart rate, hearing loss, and complications related to pregnancy, and Klinefelter syndrome includes Lung disease, Breast cancer, Autoimmune disorders, and Dental problems.

Key Features

  • Klinefelter syndrome is very common in males and boys yet it is said that 69% of the cases go undiagnosed.

  • Males with Klinefelter syndrome have 0 counts of sperms produced in the sperm as testicles are not completely developed which results in the low production of sperms.

  • In females, turner syndrome results in the abnormal size of the chest where one breast is slightly lower than the other.

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FAQs on Difference Between Turner Syndrome and Klinefelter Syndrome

1. What are the chances of having Klinefelter Syndrome?

The chances of getting Klinefelter Syndrome is 1 in 660 males. It is not a hereditary disorder that is passed down through genes, but a random condition that takes place during cell division. As a result, the chances are less but the disease is getting more common. 

2. Is Turner Syndrome and Klinefelter syndrome caused due to Mother or Father?

Turner syndrome and Klinefelter Syndrome is not associated with parents but with an error that occurs either in the mother's egg or the father's sperm during the cell division.

3. Do Turner syndrome and Klinefelter syndrome affect brain functions?

Males and females with Klinefelter and Turner syndrome have been observed with a lack of visual and hearing abilities due to the affected nerve functions in the brain. They are also said to be having memory loss or recognition difficulties due to the syndrome.