Recently, an anxious mother brought a 3-year-old girl and child (pseudonym) to the consultation room of Wei Haiyan, director of the Department of Endocrinology And Genetics and Metabolism of Henan Children's Hospital, and secretly asked: "Director Wei, how did my girlfriend grow a little Tintin like a boy?"
In fact, when the child was born, the doctor found that the child was different from other baby girls, and the clitoris was like a penis, but it was much smaller than the baby boy. The doctor suggested that Tong Tong's mother should choose to go to a higher-level hospital for treatment, which may require surgery.
In the blink of an eye, the child is 3 years old, the little Ding Ding is long, when the child's mother took the child to the surgery to prepare for surgery, the surgeon told the child's mother that the child's situation must first go to the endocrine genetic and metabolic department to test and evaluate, as far as possible to clarify the cause, and then further evaluate whether surgical intervention is needed and the effect of the intervention.
After a detailed medical history and careful physical examination, the child not only has a clitoris that resembles a penis, but is also taller than children of the same age. Now the 3-year-old child is 108.0cm tall (the median height of 3-year-old girls is 95.6cm), and the skin color is also dark. After further blood testing, the child's mother who got the results was stunned, obviously a girl, but the androgen level in the body was significantly higher than normal, and the bone age far exceeded the actual age of 3 years.
Test results of the child
Through step-by-step auxiliary examination, the cocoon is peeled off, and the child is finally diagnosed with 11β-hydroxylase deficiency.
What is 11β-hydroxylase deficiency?
11β-hydroxylasedeficiency (11β-OHD) is the second most common cause of congenital adrenal hyperplasia (CAH), accounting for 0.2%-8% of CAH, with an incidence of about 1:100,000-1:200,000, and the highest incidence in regions such as the Middle East and North Africa. 11β-hydroxylase deficiency is caused by a decrease or loss of 11β-hydroxylase activity caused by a mutation in the CYP11B1 gene.
What are the clinical manifestations of 11β-hydroxylase deficiency?
1. Hypertension: About 2/3 of the patients with the disease are mostly mild to moderate hypertension, which is caused by excessive DOC secretion caused by water, sodium retention and volume dilation.
2. Skin pigmentation: generally milder than in patients with CYP21 deficiency, which is related to the increase in ACTH levels.
3. Virilization: female patients are manifested by clitoral hypertrophy, different degrees of labia fusion, hirsutism and (or) acne. Male patients present with non-GnRH-dependent precocious puberty, premature penis development, and no enlargement of the testicles.
4. Accelerated growth: The straight-line growth of the body is accelerated, the maturity of the epiphysis is accelerated, and the bone age is advanced.
There are also some late-onset and latent symptoms, which are mild, and the external genitalia develop normally at birth without associated symptoms. Symptoms of increased androgenism occur around puberty or in adulthood, and there is generally no hypertension.
Due to the increase in androgens, girls will have clitoral hypertrophy and other masculine manifestations, which is the reason why children have "little tintin". After a definitive diagnosis, doctors immediately administer glucocorticoid therapy to the child, and after the hormone level in the body is stabilized, the enlarged clitoris can be surgically removed. If glucocorticoid therapy is not given and the enlarged clitoris is surgically removed, the androgens that continue to rise in the body after surgery will still cause the clitoris to enlarge again.
A year has passed, tong tong's mother took tong tong to the wei director's consultation room again, the child's indicators have returned to normal, and the enlarged clitoris of the child through surgery has also returned to normal.
Warm reminder: When it is found that the child's height growth rate is higher than that of the same age, and it is also found that the skin and mucosa pigmentation, external genitalia abnormalities (the boy's penis is enlarged compared to the same age, the girl's clitoral hypertrophy), or when the child's blood pressure is high, it is necessary to pay attention to the timely visit to the pediatric endocrine genetic and metabolic department, and make a clear diagnosis and standardized treatment as soon as possible to avoid blind surgery.
Department of Endocrinology and Metabolism Yang Haihua/Wen