What to do about congenital testicular dysgenesis

There are some things we have no choice about, such as genetic diseases. Congenital dysgenesis is a chromosomal genetic disease. Congenital dysgenesis patients have no abnormalities in childhood, and often show abnormalities in adolescence or adulthood. Patients are tall, with slender lower limbs, fine white skin, sparse pubic hair and beards, and often no armpit hair. They have a leopard-like body shape. About half of the patients have enlarged breasts on both sides. The following will introduce how to prevent and care for congenital dysgenesis.

1. Prevention

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 make marriage inappropriate.

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

2. 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 the disease suffered by children, it is necessary to distinguish whether it is caused by intrauterine environmental factors, delivery injuries and hypoxia-ischemia or genetic factors. Therefore, it is necessary to understand the medical history of the child's parents (such as taking medicines, nature of work, etc.), the mother's pregnancy history, the child's birth history, etc. in order to rule out various physical, chemical and biological factors that may damage 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 combined with relevant laboratory tests. If it is a chromosomal abnormality, karyotype analysis must be performed to confirm it.

(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 diagnostic techniques used are: ① amniotic fluid cell culture and related biochemical tests (amniocentesis is preferably performed at 16 to 20 weeks of pregnancy); ② determination of alpha-fetoprotein in pregnant women's blood and amniotic fluid; ③ ultrasound imaging (can be applied at around 4 months of pregnancy); ④ X-ray examination (after 5 months of pregnancy), which is beneficial for diagnosing fetal skeletal deformities; ⑤ determination of sex chromatin of chorionic villus cells (40 to 70 days after conception), to predict the sex of the fetus to help diagnose X-linked genetic diseases; ⑥ application of gene linkage analysis; ⑦ fetal microscopy.

The above introduces how to prevent and care for congenital testicular dysgenesis. We remind you to do a good job of pre-pregnancy check-up to nip this genetic disease in the bud. You should also take care of your body during pregnancy and not miss prenatal check-ups. Once you find any problems with the fetus, deal with it in time to avoid affecting the child's lifelong happiness.