rare!Husband and wife have consecutive childbirth and two -child.

13 years ago

A small life falls in Anxi, Quanzhou, Fujian

But Dad Huang (pseudonym )’s doubts followed

"My doll, is it a son or a daughter?"

Say it a son

The result of chromosome test is "XX"

Say it is a daughter

It looks like a "handle" doll

The local doctors are also confused

However, due to family poverty, Dad Huang could not take the child for further inspection and treatment, what he did not expect was that when a few years later, when the second child was born, the same strange thing happened again!

In recent years, Dad Huang has moved to many hospitals, but the problems of the two children have not been solved substantially.Seeing that Dawa Xiaoting (a pseudonym) entered the adolescence, the "masculinity" was obvious every day.A hospital for treatment.

It is difficult for men and women to distinguish everyone to check the cause

Last summer, Deputy Chief Physician Xu Yali, a pediatric surgeon affiliated to the First Affiliated Hospital of Fujian Medical University, accepted the special pair of special sisters.The DSD MDT team discussed with abnormal development of sexual development and launched a series of targeted examinations on it. It is found that from the perspective of genetic perspectives, the two sisters are indeed women, including ovarian, uterus and other organs.

However, the manicization of the two people is more serious. Among them, Xiaoting is youth, dark skin, short figure, throat knot, strong sound, and seeing the appearance is a typical "boy".

In addition, it is found that it has severe clitoral hypertrophy in the external genital examination, which is similar to that of adult men. It is accompanied by vaginal urethral fusion and has only one opening, (Prader graded 2-3).

In comprehensive situations, the doctors gradually emerged in their minds: abnormal antimosest secretion.

After a series of examinations, after excluding various incentives, doctors judge that they suffer from "congenital adrenal cortex hyperplasia", an ingrained vibrant genetic disease.

Double -pronged drug surgery

The two sisters restore "daughter’s body"

The cause is found, how do you treat it?

Attach a child’s surgical DSD MDT team to comprehensively evaluate the overall situation of clinical watches, genetic endocrine and sexual psychology of the two sisters, formulate an individualized treatment plan.Reconstruction of the genitals by surgery.

The chief physician of the pediatric surgery, Lin Junshan, then led the team to evaluate the direction of the two people’s surgery to restore the "daughter".

Due to the dysplasia of the two sisters and the fusion of the urethra and the vagina, the length of the common channel is only 3 cm, which brings a certain challenge to the surgery.

Fortunately, the operation was smooth.When the discharge is discharged, the outer genitals are generally the same as normal women, and there are no obvious scars.

This rare disease can actually prevent it

It is reported that the congenital adrenal cortical hyperplasia (CAH) is a rare enzyme deficiency in adrenal steroid synthesis caused by gene mutations, which leads to reinforcement in genetic metabolic disease with adrenal cortical hyperplasia.In newborns, the incidence rate is 5-10/100,000.

Some sick babies are not much different from healthy babies in the early stage, but in the later period, a series of short figures and masculine performance will appear.The most dangerous "salt -losing" baby is likely to induce hypertrophemia and hyperthyroidism. Many babies are regrettable to die because they do not have the correct treatment when they are not diagnosed.

CAH is a type of disease that can be treated and treats. It requires "early discovery, early diagnosis, early treatment".In the genetic testing of Xiaoting’s family, Xiaoting’s brother was just a carrier of the pathogenic gene.

How to prevent it?

Therefore, if one of the husband and wife is determined to be a carrier of the pathogenic gene, the other party should screen whether to carry the same pathogenic genes as the patient before pregnancy, and to receive genetic consultations at medical institutions with relevant qualifications.

If you are pregnant, you can generate genetic testing on the fetus before giving birth. The test results can be used as an important reference for whether to continue pregnancy. You can also apply IVF gene diagnosis technology to choose normal embryos before implanting the mother’s uterus to continue pregnancy.

Transfer: Fujian Health Newspaper

Source: Political and Law Channel

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