Recently, a 10-year-old girl found abnormal blood pressure during a quiet physical examination, and after a detailed examination, it was found that her biological sex was male
The reason is that JingJing suffered from a rare disease called congenital adrenal hyperplasia, and if it is not treated in time, there is even a risk of sudden death.
Congenital adrenal hyperplasia (CAH), an autosomal recessive disorder, is an autosomal recessive disorder that affects about 1 in every 15,000-20,000 people according to mainland newborn screening data.
This is a disease in which the synthesis of adrenal corticosteroids (aldosterone, cortisol, androgens, etc.) is impaired due to the lack and decreased activity of certain catalytic enzymes in the body, resulting in adrenal hyperplasia.
Congenital adrenal hyperplasia may be deficient in 6 kinds of enzymes, such as 21-hydroxylase, 11β-hydroxylase, 17α-hydroxylase, etc., the lack of different enzymes, there will be different hormone synthesis affected.
In the clinic, 21-hydroxylase deficiency is the most common, it leads to a decrease in aldosterone, cortisol production, and increased androgen production, resulting in a girl masculine, looking like a boy, and even a boy by sex.
Some early symptoms may occur in the neonatal period, but they are not obvious and typical
Generally, in the first 2-4 weeks of life or even earlier, there may be no eating, vomiting, diarrhea, dehydration, dry skin, and rapid weight loss, but these symptoms can occur in any newborn and are easy to misdiagnose.
A more characteristic manifestation is that children with congenital adrenal hyperplasia generally have dark skin.
It may also be due to higher androgens, resulting in enlarged clitoris in girls, confused with the penis, and thus misjudged as a boy's condition.
These external genital abnormalities may be gradually discovered with the age of children, generally girls are found in 6 months to 2 years old, boys are mostly found in 2-4 years old, these belong to the classic type.
In addition to this, there may be some non-classical types that will be discovered later.
In non-classical types of patients, enzyme activity may be higher than that of classical types of patients, about 20%-50%, often until puberty has heavier body hair, darker skin, acne, or precocious puberty, menstrual irregularities and other conditions before being found.
Not all patients develop high blood pressure
In the news at the beginning of the article, the sick girl Jingjing went to the hospital due to high blood pressure and was found to have congenital adrenal hyperplasia.
However, not all patients with congenital adrenal hyperplasia will have symptoms of high blood pressure.
11β-hydroxylase deficiency and 17α-hydroxylase deficiency often cause hypertension, especially the 17α-hydroxylase deficiency of girls in the news, and the onset is often manifested by low potassium and hypertension.
The most common type of 21-hydroxylase deficiency is often not spontaneous hypertension, but symptoms of hypertension due to long-term hormone replacement therapy, excessive hormone use and then high blood pressure.
Diagnosis is mainly made by the following tests
Biochemical examination
Some newborns may have hypoglycemia due to decreased glucocorticoid synthesis, so it is necessary to check for hypoglycemia; it is also necessary to check for electrolyte abnormalities, such as low sodium and high potassium.
Hormones synthesized by the adrenal glands are checked
For example, whether DHEA, androstenedione, testosterone, 17α-hydroxyprogesterone, etc. are increased or decreased, and whether hormones secreted by the hypothalamic-pituitary-adrenal axis (a way in which the body regulates adrenal secretion) are elevated, such as whether ACTH is elevated.
Gender identification checks
Through chromosome tests, or ultrasounds of the vulva, groin, or pelvis, to see if the child's gonads are the testicles of the boy or the ovaries of the girl.
Imaging studies
An ultrasound or CT scan is done to see if the adrenal glands are hyperplasia.
Congenital adrenal hyperplasia if it is not found in time and supplemented with the missing hormones, it may trigger an adrenal crisis when a cold, fever, and strenuous exercise occur, and there will be salt loss, low sodium, and high potassium, which may lead to shock, circulatory failure, heart rate disorders and even sudden death.
At present, some areas have included congenital adrenal hyperplasia in newborn disease screening, mainly on the third day after birth, through heel blood collection.
Reference: Medical Microvision official website - Chen Xiaobo Chief Physician "Congenital Adrenal Hyperplasia"