What to do if the testicles are not well developed

If the testicles do not develop properly, they will become deformed. This is a congenital disease. Most patients find out that they have this problem when they are born. Many older women are very likely to give birth to children with this deformity. After it happens, there is no way to improve it. The only way is to undergo surgery to correct the testicles, and this treatment method is not very effective.

Chromosomal abnormalities of congenital testicular dysgenesis are more likely to occur in older women during pregnancy. Please refer to the relevant preventive measures for genetic diseases:

1. Prohibit consanguineous marriage and avoid pregnancy at advanced age.

2. Premarital examination to detect genetic diseases or other diseases that may prevent marriage.

3. Determine whether it is a genetic disease and the mode of inheritance through population census, family investigation, pedigree analysis, laboratory testing, etc.

4. Genetic consultation

(1)Target of genetic consultation:

① Patients diagnosed with genetic diseases and their relatives.

② Families with continuous occurrence of unexplained illnesses.

③ Those with congenital primary mental retardation, suspected to be genetically related.

④Carriers of balanced translocation chromosomes or pathogenic genes.

⑤Women with unexplained recurrent miscarriages.

⑥ Those with abnormal sexual development.

⑦ Those who have a family history of genetic diseases and plan to get married and have children.

(2) The main goals of genetic consultation:

① For the patient:

A. Determine the diagnosis, cause, inheritance, treatment and prognosis of the disease, and further analyze whether the patient's pathogenic gene or chromosomal abnormality is caused by a new mutation or inherited from the previous generation.

B. Reduce the patient's physical and mental pain and anxiety.

C. Provide early attention and necessary treatment to patients who are not ill.

②For parents and relatives:

A. Detect carriers and latent cases in the family.

B. Determine the risk of illness for a family member.

C. Help couples who are at risk of having children with genetic diseases to consider family planning scientifically and in accordance with family planning regulations.

(3) Genetic estimation of pediatric diseases:

① For children's diseases, it is necessary to distinguish whether they are caused by intrauterine environmental factors, birth injuries, hypoxia-ischemia or genetic factors. Therefore, it is necessary to understand the medical history of the parents of the child (such as medication, nature of work, etc.), the mother's pregnancy history, the child's birth history, etc., in order to exclude various physical, chemical and biological factors that may harm the embryo and fetus.

② Asking about family history and analyzing family tree is one of the basic methods of genetic counseling.

③ Make a clear diagnosis based on clinical manifestations and related laboratory tests. If it is a chromosomal abnormality, it must be combined with karyotype analysis to be confirmed.

(4) Clarify the genetic characteristics of each genetic disease: This is of great significance for guiding reproductive studies.

5. Prenatal diagnosis

Prenatal diagnosis or intrauterine diagnosis is an important measure of preventive eugenics. The prenatal diagnosis techniques used are:

① Amniotic fluid cell culture and related biochemical tests (amniocentesis should be performed between 16 and 20 weeks of pregnancy);

② Determination of alpha-fetoprotein in pregnant women’s blood and amniotic fluid;

③Ultrasound imaging (can be used around 4 months of pregnancy);

④X-ray examination (after 5 months of pregnancy) is helpful for diagnosing fetal skeletal deformities;

⑤ Determination of sex chromatin of chorionic villus cells (40-70 days after conception) to predict the sex of the fetus to assist in the diagnosis of X-linked genetic diseases; ⑥ Application of gene linkage analysis; ⑦ Fetal microscopy.

Through the application of the above technologies, the birth of fetuses with serious genetic diseases and congenital malformations can be prevented.