A 27-year-old girl found out before marriage that she was a "boy" Expert: Parents should pay attention to the physiological development of the baby girl

Wuhan Radio and Television Station

2024-04-16 17:00Posted on the official account of Hubei Wuhan Radio and Television Station

Reporter Zheng Wei Ren Miao Correspondent Ding Xiaoting

27-year-old Li Yuan (pseudonym) was about to marry her boyfriend, and a premarital examination found that he was actually a male chromosome. It turned out that Li Yuan was suffering from a rare "congenital adrenal hyperplasia", which not only had a misplaced gender perception, but also related complications that could be life-threatening.

Li Yuan is the second daughter in the family, but after all girls of the same age have entered puberty, she has not had menstruation for a long time, and her breasts have not developed. At the age of 18, Li Yuan had been in the local hospital because she had not had menstruation, and the hormone levels and progesterone results were abnormal, and the ultrasound examination showed that it was the primordial uterus, and there was a possibility of congenital ovarian absence.

This year, Li Yuan planned to marry her boyfriend who was in a stable relationship, and was going to thoroughly check the gynecology project, and after many inquiries, she found Duan Jie, director of the gynecology department of the Optics Valley Branch of the Hubei Provincial Maternal and Child Health Hospital.

Hearing about Li Yuan's previous medical experience, Duan Jie carefully checked her previous sex hormone results, and FSH increased, and progesterone also increased. Based on her rich clinical experience, Duan Jie preliminarily judged that Li Yuan's problem was not as simple as premature ovarian failure and primary amenorrhea, but may be a rare 17α-hydroxylase deficiency in adrenal hyperplasia.

This time, Duan Jie persuaded Li Yuan with a thorough analysis, and she perfected the tests of sex hormones, adrenal cortex function, chromosomes, 17-OHP and gynecological B-ultrasound, and whole exome gene testing.

After anxiously waiting for nearly 1 month, the results of the examination confirmed Duan Jie's diagnosis, Li Yuan is indeed a very rare 46xy 17α-hydroxylase deficiency, because it has not been diagnosed and treated at an early stage, and there are still serious problems of osteoporosis and vitamin D deficiency.

In other words, Li Yuan's social sex is female, but the chromosomal sex is male. Duan Jie said that Li Yuan suffered from a rare congenital adrenal hyperplasia (CAH) with 17α-hydroxylase deficiency. For individuals with a male karyotype of 46,XY, a deficiency of this enzyme can cause the body to not produce enough male hormones properly to develop typical male sex characteristics, and as a result, these individuals may develop ambiguous or more feminine appearance.

After living as a woman for 27 years, he turned out to be a man, and Li Yuan couldn't accept this reality for a while. But she had to solve the problem as soon as possible, because the testicles hidden in her abdomen were very cancerous and needed to be surgically removed as soon as possible.

Due to 46xy 17α-hydroxylase deficiency, Li Yuan is more susceptible to surgical infections and bleeding than the average patient, as well as life-threatening adrenal crisis. After being admitted to the hospital, the multidisciplinary diagnosis and treatment team formulated a detailed personalized surgical plan and perioperative drug treatment for Li Yuan. At the beginning of April, Director Duan Jie and Dr. Zhang Lingli performed single-port laparoscopic gonadectomy for Li Yuan, and the postoperative examination results showed that the testicular tissue was dysplasia.

After the careful care and care of the nursing team, Li Yuan was successfully discharged from the hospital 3 days after surgery. After she was discharged from the hospital, she also needed to take adrenocorticosteroid drugs regularly, and at the same time regularly visit the endocrinologist and gynecology department for follow-up.

Congenital adrenal hyperplasia is an autosomal recessive disorder in which both parents carry the recessive gene that causes the disease, and each child conceived has a 1 in 4 chance of being positive. The disease can be identified through prenatal diagnosis in a specialized hospital to determine whether the fetus has the disease, and the child must be screened for neonatal diseases after birth, so as to achieve early detection, early diagnosis and early treatment.

Duan Jie reminded parents who have a daughter to have a baby if their child does not menstruate for a long time, or has malformations of the external genital tract, they must seek medical attention in time for early diagnosis and treatment, such as the diagnosis of congenital adrenal hyperplasia should be carried out as soon as possible.

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