Turner’s and Klinefelter’s syndromes

Introduction

Syndrome is a set of medical symptoms and signs that are correlated with each other and often caused by a particular disorder or disease. It is a concern for all as they get undiagnosed by most of the time. In this article, we will focus on the Turner’s and Klinefelter’s syndromes which is due to the reason of missing or presence of extra X chromosome in the female and male respectively.

Turner’s and Klinefelter’s syndromes definition

• Turner’s and Klinefelter’s syndromes can be defined as a genetic disorder in female/ males. It is caused not because of heredity but due to loss or extra X and Y chromosomes. Turner’s and Klinefelter’s syndromes are both related to the genetic disorder but are different
• A genetic disorder in females was first described by Henry Turner in 1938. It is caused due to the complete or partial loss of one of the chromosomes, X. Monosomy of the X chromosome is another name for Turner’s syndrome. It is the only viable monosomy chromosomal anomaly. It is found in 1 out of 2500 females
• Klinefelter Syndrome is another genetic disorder, but it is in males. It is caused when the born male baby has extra or more than required X Chromosomes. This extra chromosome can cause extra physical traits in males which is not appropriate for them. It is found in 1:1000 in male births

Turner’s and Klinefelter’s syndromes causes

Turner syndrome is due to complete or partial loss of the sex chromosome. It is a genetic disorder. 1 X chromosome is missing in some or all the cells. Turner syndrome is only found in female babies. In contrast, Klinefelter syndrome is due to the presence of an extra X chromosome. It happens when the genetic element divides unevenly in the egg or the sperm. It is also a genetic disorder, but it is only found in male babies.

Turner’s and Klinefelter’s syndromes Symptoms

There are no major symptoms of Klinefelter syndrome. Some of the symptoms are enlarged breasts, thin hair, small testicles, underdeveloped penis, and wide hips.

A few of the symptoms of turner syndrome are as follows:

• Facial features like the narrow palate, low-set prominent earlobes, drooping eyelids and small jaws
• Delayed puberty, irregular growth, or growth spurts
• Short stature in comparison to other females
• Females may have some learning difficulties, for example, difficulty in learning math, difficulties in memorizing, and difficulty in learning spatial concepts
• Delayed or absence of the menstrual cycle, poorly developed breasts, and infertility 
• Abnormal heart murmur or sound due to narrow aortic and other abnormalities related to kidney, liver and heart
• They might find difficulty in non-verbal communication and understanding others emotions
• They might find difficulty in understanding others’ emotions and communicating in non-verbal form
• Hypertension and Hypothyroidism are normal and frequent
• Inadequate estrogen resulting in osteoporosis
• Chronic middle ear infection resulting in hearing loss

Turner’s and Klinefelter’s syndromes Treatment

There is no treatment for turner syndrome, but the complications related to the condition can be lessened.

There are several treatments for Klinefelter’s syndrome that vary based on the symptoms of the patient. The treatment involves :

1. Psychological counseling.
2. Hormonal Replacement Therapy.
3. Fertility treatment.
4. Support and Educational evaluation.
5. Removal of excess breast tissue.

Turner’s and Klinefelter’s syndromes Classification

Monosomy of X: In this condition, half of the cases related to the Turner Syndrome have a complete lack of one X chromosome. This was caused due to the abnormal cell division during the formation of the gamete. Sperm or eggs lack a sex chromosome. Individuals suffering from this form of Turner syndrome contain all the cells that lack one X chromosome, which means they have 45 chromosomes in every cell. Individuals with XO have no sex chromatin that means the X chromosome is not activated but is present. For the proper development and growth of the individual, active pairs are needed in pairs.

Mosaicism: In this condition, cases related to the Turner Syndrome have a partial loss of sex chromosomes. It was lost during mitosis after fertilization. This means when the zygote was developing, some cells had normal 46 chromosomes while some cells had 45 chromosomes. If loss of sex chromosomes happens during the early stage, it develops into Turner Syndrome, and if the loss of sex chromosomes happens in the later stage of development, then the severity of the symptom is less or reduced.

Trisomy of X: In this condition, cases related to the Klinefelter’s Syndrome have an extra sex Chromosome instead of normal XY chromosomes. This was caused due to random error in the formation of an egg or a sperm. Maximum cases from this syndrome are due to the error in sperm formation while remaining due to the error in egg formation.

Difference between Turner’s Syndrome and Klinefelter’s Syndrome

Conclusion

In this article, we have discussed Turner’s and Klinefelter’s syndromes, their definition, causes, symptoms, treatment and the difference between Turner’s and Klinefelter’s syndromes. Although with the extensive deformities, due to the developing technologies, these disorders are manageable.