Unusual case: Woman in Hubei possesses male chromosomal characteristics

A 27-year-old woman in Hubei province discovered a chromosomal disparity during a pre-marital medical examination, according to a report Saturday by Cover News.

Li Yuan, as identified in the report, was diagnosed with Congenital Adrenal Hyperplasia (CAH), a rare condition resulting in a mismatch between her chromosomal sex and external genitalia. This condition also carries potential health risks.

Unlike other women her age, Li did not experience menstruation or breast development during puberty. At 18, she sought medical attention for the lack of menstruation, with doctors suspecting premature ovarian failure due to an underdeveloped uterus. However, she did not pursue further investigation at that time.

Motivated by an upcoming marriage, Li underwent a comprehensive gynecological exam at the Hubei Provincial Maternal and Child Health Hospital. Testing revealed a deficiency in the enzyme 17α-hydroxylase, a key component in CAH. This deficiency disrupts typical male hormone production, leading to ambiguous or feminine physical characteristics in individuals with a male genotype.

In essence, Li identifies as female but possesses a male chromosomal makeup. The condition also presents additional health concerns, such as osteoporosis and vitamin D deficiency.

Facing this unexpected reality, Li acknowledged the need to address her situation. The presence of undescended testes within her abdomen posed a high cancer risk, necessitating immediate surgical removal.

A multidisciplinary medical team at the hospital developed a personalized surgical plan. In early April, Li underwent laparoscopic gonadectomy, a minimally invasive procedure to remove the underdeveloped testicular tissue.

After receiving post-operative care, Li was discharged three days later. Her ongoing treatment plan includes regular hormone replacement therapy and follow-up appointments with endocrinology and gynecology specialists.