Difference between Turner Syndrome and Klinefelter Syndrome


A group of traits or abnormalities that are intended to occur together to result in specific diseases is known as a syndrome. In simple words, the syndrome is a collection of traits that have distinctive features and that have run together. The syndrome is derived from the Greek word syn means together and drome stands for a run. Most of the syndromes were named after the scientist who first discovered them.

For example, Down syndrome and Marfan syndromes are two syndromes that are discovered by the respective scientists Dr Down and Dr Marfan. Both turner syndrome and Klinefelter syndrome are chromosomal disorders. Turner syndrome and Klinefelter syndrome are affected women and men respectively. In this tutorial, we will learn about tuner and Klinefelter syndrome in depth.

Turner syndrome

Turner syndrome is a chromosomal disorder that affects females. It affects the development of the reproductive organ of females and is evident at the age of five. The ovary's function is affected by this syndrome. In the beginning, the ovaries developed normally but most of the ovarian tissues, and oocytes are destroyed and completed disappear before birth. Hormonal therapy is given to the affected girls to attain puberty. Most women having turner syndrome are infertile.

The girl or woman affected by this syndrome may show the following symptoms

  • Skin in the neck has extra folds
  • Back of the neck low hairline are present
  • Inflammation of the hands and feet
  • Problem in excretory organ kidney
  • Obstacles in heart
  • Reproductive organ is not well developed
  • May not have menstrual periods

Although most of the affected females have normal intelligence but delays in development. Learning difficulties and behavioural problems are also common. But these symptoms vary from person to person. This condition is present in 1 in 2500 newborn girls around the world.


As we know human beings have a pair of sex chromosomes. Males have XY chromosomes while females have XX chromosomes. In Turner syndrome out of two X chromosomes, one X chromosome is normal while another is either missing or structurally deformed. The deformed or missing X chromosome affects development before or after birth. About half of the individuals which are affected by this syndrome have only one X chromosome instead of two X chromosomes. This condition is known as monosomy X. This syndrome can also appear if one of the X chromosomes partially missing or have a structural abnormality. The chromosomal changes have only been seen in some of the cells in females that condition is known as mosaicism. Mostly the Turner syndrome is not inherited.


Normally parents notice symptoms of Turner syndrome- swelling in the feet and hands and webbing in the neck which can be recognized after the birth. Growth and menstrual periods are delayed. Turner syndrome can be diagnosed by a genetic test called a karyotype. The test diagnosed whether one of the X chromosomes is partially or mutually missing.

Treatment of Turner Syndrome

  • Human growth hormone
  • Estrogen therapy
  • Cyclic progestins

Klinefelter syndrome

Klinefelter syndrome is a chromosomal disorder that affects men and boys. It may affect physical and mental health. Generally, the affected men are infertile and their height is more than average and their breasts are enlarged. However, the symptoms are varied among boys and men. Sometimes the symptoms are so mild that it is undiagnosed till adulthood.

The section of boys and men that has suffered from this disorder generally have small testes and they produce testosterone in less amount. As the production of testosterone is less it affects puberty, and muscle formation reduced the amount of body and facial hair and finally leads to infertility. The other problems faced with these low muscle tones are delayed development in motor neuron skills, learning, and speech delay. An individual with this type of syndrome tends to have type 2 diabetes, hypertension, obesity, and attention deficit. Some of these have also autism disorders. This condition is present in 1 in 650 newborn boys around the world.


As we know human beings have 46 chromosomes out of these one has a pair of sex chromosomes. Males have XY chromosomes while females have XX chromosomes. The boys and men who suffered from this syndrome have extra X chromosomes in addition to as usual X and Y chromosomes. The presence of an extra X chromosome affects many aspects of development. In some of the affected people, the extra X chromosome is present in certain cells whereas other cells have X and Y chromosomes. This is described as mosaic Klinefelter syndrome. Mostly the Klinefelter syndrome is not inherited.


  • Testing after abnormal growth during childhood, puberty, and throughout teenage.

  • Prenatal screening

  • Fertility test in case of fertility-related issues.

Treatment for Klinefelter syndrome

It cannot be cured as it's a genetic disorder but it can be managed to a certain extent by hormonal replacement, surgery, and therapy.

Similarities between Turner and Klinefelter Syndrome

Both Turner and Klinefelter Syndrome are genetic disorders with sex chromosomes, leading to gonadal dysgenesis and infertility.

Difference between Turner and Klinefelter Syndrome

Turner syndrome Klinefelter syndrome
Lack of one X sex chromosome Presence of one extra X sex chromosome
Present in female Present in male
Extra fold in the neck, swelling in hands and feet's Height is more, enlarged breasts and underdeveloped sex organs
Treated with growth hormone, estrogen therapy, and cyclic progestins Treated with hormonal replacement, surgery, and therapy.
1 in 2500 phenotypic females. 1 in 1100 phenotypic males.


Both Turner and Klinefelter syndrome are genetic disorders of sex chromosomes. In the Turner syndrome, one of the X sex chromosomes is missing or partially present leading to infertility in women. While Klinefelter's syndrome has extra X sex chromosomes in addition to as usual X and Y chromosomes. This Klinefelter syndrome is seen in men and leads to infertility. These genetic disorders cannot be completely cured but to some extent, they can be managed.


Q1. What is estrogen therapy?

Ans. It is a female hormone which given to girls to help in the development of breasts and begin the menstruation cycle. It is also used to treat menopause.

Q2. What are cyclic progestins?

Ans. If in the blood test reports hormone deficiency is present then cyclic progestins are used. It is generally given to girls whose age is between11-12. Progestins will induce cyclic menstrual periods. Treatment starts with low dosed and slowly the dosages are increased to prompt normal puberty.

Q3. What is Down’s syndrome?

Ans. Down’s syndrome is a genetic disorder in which individuals have one extra chromosome. The individuals suffering from this type of disorder have learning disabilities, developmental delays, growth abnormalities, heart, and gastrointestinal disorders.

Q4. What is prenatal screening?

Ans. Prenatal screening can able to identify whether babies have certain birth defects or not. It is done through a series of blood tests, ultrasound, and DNA screening.

Q5. What is type 2 diabetes?

Ans. In this type, the body is unable to produce enough insulin or resists the production of insulin.

Updated on: 01-Dec-2022


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