How do genetic diseases affect male fertility?

How do genetic diseases affect male fertility?

Some hereditary diseases are related to fertility. Common ones include: sexual immaturity-anosmia syndrome, which is a luteinizing hormone-releasing hormone release disorder caused by hypothalamic dysfunction. It may be a hereditary disease. But it has not yet been determined. Nowadays, it is mostly believed to be caused by abnormal development of the central nervous system during the embryonic stage. Typical clinical manifestations of this syndrome are: underdevelopment of secondary sexual characteristics during puberty, tall stature with delicate skin, small testicles, loss of smell, color blindness, neurological deafness, and cleft lip. These symptoms vary widely between individuals.

Men with this syndrome have no sperm and low levels of all hormones. The most effective treatment for this syndrome is direct injection of luteinizing hormone-releasing hormone. After treatment, the patient\’s sexual organs will gradually mature and normal sperm production will occur. It is also effective to inject Pugna injection (containing human menopausal gonadotropin) into patients. The earlier the syndrome is diagnosed, the higher the chance of successful treatment.

Klinefelter syndrome accounts for 1% to 2% of male infertility cases. Men with Klinefelter syndrome have at least one extra X chromosome, and sometimes more. Among chromosomal diseases with a low incidence rate, this syndrome is the most common, affecting approximately 1 in every 800 boys born. Most of these patients are unaware that they have the disease because physical examination reveals that male sexual characteristics are present, and the immature testicles are not noticed until puberty. Patients often present with small testicles and slightly bulging breasts. Usually such patients come to see a doctor because of infertility. Unfortunately, there is nothing that can be done to treat patients with XXY chromosomes. These patients will be infertile for life; their libido is also low due to reduced testosterone secretion. Testosterone supplementation can usually increase the libido in these patients. The chromosome type is XXY/XY, that is, mosaic type, which means that some cells in the body carry XXY chromosomes, and other cells are normal XY type. In this case, hormone therapy is expected to mature sperm production and the patient may be able to have children.

Testicular Sertoli cell syndrome is rare. Patients may be born without spermatogonia. Clinically, except for azoospermia and slightly high hormone levels, the rest were normal. The cause of this syndrome is currently unknown, but it is estimated to be related to genetic factors. There is no effective treatment for this disease. The best treatment for such patients is artificial insemination.


This article is provided by Baidu Reading and is excerpted from \”The Clear \”Conception\” Plan\” Author: Sun Jianqiu and Xie Yingbiao

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