Seven genetic diseases that mainly affect men

Proven content

In addition to the color of the iris or hair, we can get a genetic disease in the package from the parents. Some of them show up mainly in the descendants of the male line. Meet the unfortunate seven.

1. Among the diseases that are genetically more related to the male sex, we can distinguish, among others, hemophilia and color blindness. According to various data, color blindness affects 0,5-1 percent. women and about 8 percent. men
2. Other diseases that show up in male descendants include Klinefelter’s Syndrome and Fragile X Syndrome
3. On March 10, we celebrate the International Men’s Day
4. You can find more up-to-date information on the TvoiLokony home page

Hemophilia

It is a genetic, recessive and gender-related disease. The genes affected by the mutation are associated with the X chromosome. This means that usually only males are affected, while females are asymptomatic carriers. Haemophilia belongs to the group of plasma bleeding disorders. The essence of the disease is the congenital lack or deficiency of blood clotting factors. If a blood vessel (vein, artery, capillary) is damaged in a healthy person, blood components, platelets (thrombocytes), and clotting factors form a clot and prevent prolonged bleeding. In people with haemophilia, due to the absence or deficiency of clotting factors, it is difficult for a clot to form, and bleeding time lengthens.

Daltonism

This is another hereditary, recessive X-linked disease. As a result genetic disorders the suppository dye is not produced at all or its molecule has an incorrect structure and therefore cannot fulfill its function. There are several varieties of color blindness. The most severe of them is monochromatism – in this case the patient only distinguishes between white and black. Another variation is trichromatism. As a result of weakening the work of the suppositories in the human eye, the perception of color intensity is reduced. The most common variety, however, is dichromatism. The absence of one of the photoreceptors makes it completely impossible to recognize green or red. According to various data, color blindness affects 0,5-1 percent. women and about 8 percent. men.

1. A man comes to the doctor when he feels a decrease in libido. This is a disturbing signal

Klinefelter’s syndrome

Otherwise, team 47 or XX occurs in men who have increased the number of the X chromosome in male cells. Affected men are usually sterile due to underdevelopment of the penis and testicles. Some people have zwitterionic features, such as: feminine silhouette, disproportionately long limbs and above-average height, enlarged nipples, and a tendency to breast cancer. The patient’s body produces less testosterone, which results in impaired sexual maturation, therefore the differences in appearance become apparent only in adolescence. Sometimes there is also a slight intellectual disability.

The disease is accompanied by disturbances in metabolism and, as a result, a tendency to obesity and the risk of developing diabetes. Testosterone therapy brings good results and improves the figure to be more masculine.

Duchenne muscular dystrophy

It is a genetic disease that causes progressive and irreversible muscle wasting. The diagnosis means a long-term struggle for the child’s fitness, as well as extending his life. The first symptoms of muscular dystrophy appear between the ages of 1 and 4. This starts with walking problems, the child later starts walking and his gait is unsteady, the so-called waddling. The muscles are clearly weak, his posture is uncertain, the boy is less physically fit than his peers. With time, he begins to have problems with getting up and walking up the stairs. Around the age of 20, muscle wasting leads to death from respiratory and heart failure.

Disease inheritance is gender-specific. Mothers carry a faulty gene that they can pass on to their babies. Boys are sick and girls can be carriers. Carriage itself is asymptomatic or associated with minor symptoms. It is possible to slow down the progression of the disease by keeping the child active as long as possible. Promising results in treating patients were obtained with molecular therapy using exon skipping technology.

1. It also occurs in men. The first symptoms are abdominal obesity and a decrease in libido

Fragile X syndrome (FRA X)

This is one of the most inherited syndromes leading to intellectual disability. It has one in 1200-3600 births for boys and one in 4000-6000 for girls. FRA X symptoms they are much more severe in men. The alarm signals are protruding auricles, a delay in psychomotor development and impaired speech development. After the boy reaches puberty, symptoms of moderate to severe intellectual disability are of the greatest importance. A child of this age shows emotional lability, features of autism, attention deficit disorder and motor hyperactivity. Other possible symptoms are a narrow, elongated face, flat feet, enlarged testes, and too much laxity in the interphalangeal joints in the hands.

Fragile X syndrome is diagnosed by genetic testing for the presence of a mutation in the FMR1 gene. Unfortunately, the disease of the fragile X chromosome is incurable. Treatment is based on alleviating and eliminating symptoms.

Fish scales

It is an extremely rare skin disease, genetically determined. It consists in excessive and abnormal keratosis of the epidermis with a simultaneous disturbance of the process of its removal. As a result, cracks resembling a fish scale appear on the skin. In the most severe cases, the disease covers the entire body surface, but more often it affects only parts of the skin of the arms and legs.

We can talk about several types of the disease:

1. common ichthyosis,
2. porcupine ichthyosis,
3. gender-related ichthyosis.

The latter affects mainly men, and skin lesions appear at birth or in the first 3 months and are generalized, thick scales located also in skin folds and joint bends. Unfortunately, they persist throughout the patient’s life. Treatment in all types of scales is only symptomatic and consists in regular care, hydration and lubrication of the skin and the use of external keratolytic drugs.

Hunter’s syndrome

Also known as type II mucopolysaccharidosis. The essence of Hunter’s syndrome is the lack or defect of idursulfase – the enzyme responsible for the synthesis of mucopolysaccharides. As a consequence, mucopolysaccharides accumulate in organs and lead to their failure. Hunter’s syndrome belongs to the so-called rare diseases. The frequency of its occurrence is 1 in 150 births, mostly boys.

According to the data of the MPS Association, in Poland, Hunter’s disease accounts for about 20 percent. all cases of mucopolysaccharidosis. The first symptoms appear in the 2nd to 3rd months of the year. age. The disease has two forms. In type A there is thickening of facial features, short stature, joint changes, enlargement of the spleen and liver, hernias, impaired mental development, and bone changes. In type B Mental retardation is mild or absent, dysmorphic features are less severe, and bone changes are much milder. The period of survival in the form of the classic Hunter syndrome is about 20 years. People who struggle with type B of Hunter’s syndrome survive longer.

We encourage you to listen to the latest episode of the RESET podcast. This time we devote it to the problems of the perineum – a part of the body just like any other. And although it concerns all of us, it is still a taboo subject that we are often ashamed to talk about. What do hormonal changes and natural births change? How not to harm the pelvic floor muscles and how to care for them? How do we talk about perineal problems with our daughters? About this and many other aspects of the problem in a new episode of the podcast.

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