A mother was shocked to learn that she had been raising a son after believing she had been raising a daughter for 15 years.
CTWANT reported that Shenzhen resident Ms. Su received a shocking diagnosis after she took her 15-year-old daughter to the hospital after she failed to get her period.
Through testing, doctors found that the daughter lacked a 17α-hydroxylase enzyme, which disrupted the synthesis of sex hormones, resulting in a deficiency of male hormones.
After Ms. Su noticed that her daughter showed no signs of puberty changes, she sought out online consultations with experts who informed her that no signs of puberty by 13 years old could indicate delayed puberty, which may related to genetic, nutritional, or endocrine factors.
“My husband and I experienced puberty at a normal age, and we strived for our daughter to receive good nutrition. There shouldn’t be any issues with her development,” Ms. Su expressed after taking her daughter to the nearby hospital.
Professional examinations revealed that her daughter’s uterus and ovaries had not developed, and chromosome testing showed a result of 46XY, indicating normal male chromosomes.
After the doctors reconfirmed the results, Ms. Su was shocked. “For over ten years, my daughter’s personality, appearance, and external characteristics were all those of a girl,” she shared.
Her daughter should have developed male sex organs because of her Y chromosome, and doctors confirmed that her daughter had hidden testes internally, while her external genitalia appeared female.
After visiting an endocrinologist for further testing, the results showed her daughter lacked 17α-hydroxylase, which disrupted her sex hormone synthesis and a deficiency of male hormones.
Dr. Yang Jing, the head of the endocrinology department, explained, “During fetal development, male hormones play a crucial role in the normal differentiation of male sex and the development of the penis. If male hormones are deficient, a fetus with 46XY chromosomes can develop in a female direction, leading to conditions such as male pseudohermaphroditism or gender transition.”
A 17α-hydroxylase deficiency results in decreased synthesis of glucocorticoids and increased synthesis of mineralocorticoid precursors, which can cause symptoms such as hypertension, hypokalemia, and skin pigmentation.
According to reports, her daughter’s blood pressure is currently at a high-normal level. Her daughter’s bilateral cryptorchid testes were surgically removed, and reports indicate that her recovery went well following the procedure.
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