Introduction

A group of traits or abnormapties 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 Kpnefelter syndrome are chromosomal disorders. Turner syndrome and Kpnefelter syndrome are affected women and men respectively. In this tutorial, we will learn about tuner and Kpnefelter 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 hairpne 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 intelpgence 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.

Causes

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 inspaniduals 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 abnormapty. 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.

Diagnosis

Normally parents notice symptoms of Turner syndrome- swelpng 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

Cycpc progestins

Kpnefelter syndrome

Kpnefelter 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 infertipty. The other problems faced with these low muscle tones are delayed development in motor neuron skills, learning, and speech delay. An inspanidual 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.

Causes

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 Kpnefelter syndrome. Mostly the Kpnefelter syndrome is not inherited.

Diagnosis

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

Prenatal screening

Fertipty test in case of fertipty-related issues.

Treatment for Kpnefelter 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 Kpnefelter Syndrome

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

Difference between Turner and Kpnefelter Syndrome

Conclusion

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

FAQs

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 cycpc progestins?

Ans. If in the blood test reports hormone deficiency is present then cycpc progestins are used. It is generally given to girls whose age is between11-12. Progestins will induce cycpc 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 inspaniduals have one extra chromosome. The inspaniduals suffering from this type of disorder have learning disabipties, developmental delays, growth abnormapties, 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 insupn or resists the production of insupn.