Rare Case of Congenital Adrenal Hyperplasia: A Woman’s Shocking Discovery

2024-04-17 09:44:36

A 27-year-old woman in Wuhan, Hubei Province was preparing to get married to her boyfriend. A pre-marital examination found that she was chromosomally biologically male. It turned out that he was suffering from the rare “congenital adrenal hyperplasia”. Not only was his gender recognition misaligned, but the related complications could also be life-threatening. The testicles hidden in his abdomen could easily become cancerous and needed to be surgically removed as soon as possible.

Domestic media reported that a 27-year-old woman in Wuhan, Hubei Province was preparing to marry her boyfriend. A pre-marital examination found that she was chromosomally male. It turned out that he was suffering from the rare “congenital adrenal hyperplasia”. Not only was his gender recognition misaligned, but the related complications could also be life-threatening. The testicles hidden in his abdomen could easily become cancerous and required surgical removal.

When I was 18, I never had my period and my breasts didn’t develop.

After girls of the same age entered puberty, Li Yuan (pseudonym) never had menstruation and her breasts did not develop. When he was 18 years old, Li Yuan went to the hospital because he had never had menstruation. His hormone levels and progesterone results were abnormal. The ultrasound examination showed that he had a primordial uterus and there was a possibility of congenital absence of ovaries. The doctor considered that it might be premature ovarian failure. It was suggested that she get a chromosome test, but she and her family didn’t care at the time.

This year, Li Yuan planned to get married to her boyfriend, who was in a stable relationship, and was planning to thoroughly check the gynecology program, so she found Duan Jie, director of the gynecology department at the Optics Valley Campus of Hubei Maternal and Child Health Hospital. After examination, it was discovered that Li Yuan was suffering from a rare “congenital adrenal hyperplasia”. Not only was his gender recognition misaligned, but related complications could also be life-threatening. The testicles hidden in his abdomen were very easy to become cancerous and needed to be treated as soon as possible. Surgery.

“The chromosomal sex is male”

“Li Yuan’s social gender is female, but his chromosomal sex is male.” Duan Jie said that Li Yuan suffered from 17α-hydroxylase deficiency in the rare congenital adrenal hyperplasia (CAH). For individuals with the male karyotype 46,XY, a deficiency in this enzyme will cause the body to be unable to produce enough male hormones to develop typical male sexual characteristics. Therefore, these individuals may have ambiguous or more skewed sexual characteristics. Female appearance.

After living as a woman for 27 years, Li Yuan was actually a man. Li Yuan could not accept the reality for a while, but “she” had to solve the problem at hand as soon as possible. In early April, the doctor performed a single-port laparoscopic gonadectomy on Li Yuan. The postoperative pathological examination showed that he had dysplastic testicular tissue. Three days after the operation, Li Yuan was discharged from the hospital smoothly. After being discharged from the hospital, “she” still needs to take adrenocortical hormone drugs regularly, and at the same time go to the endocrinology department and gynecology department for regular follow-up.

Duan Jie reminded parents of girls that if their children have delayed menstruation or have external genital tract malformations, they must seek medical treatment in time and receive early diagnosis and treatment. If congenital adrenal hyperplasia is diagnosed, relevant surgeries and treatments should be carried out as soon as possible.

The original article was published on AM730

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