Bilateral congenital adrenal cortical hyperplasia

　　The etiology of this disease is not yet clear. Most scholars do not agreeAdrenocorticotropic hormone (ACTH). The pathogenesis of the transition from ACTH-dependent to non-dependent. It has been confirmed that ACTH-dependent macronodular hyperplasia (AIMAH) can be caused by factors other than ACTH, and it has been found that the abnormal expression of gastrin-releasing peptide (GIP), arginine vasopressin (AVP), and β2-adrenergic receptor in the adrenal glands can cause AIMAH. The most common congenital adrenal cortical hyperplasia is 21-hydroxylase deficiency, accounting for more than 95%. The 21-hydroxylase gene has been cloned and located at the human leukocyte antigen site on chromosome 6, and 95% of patients with congenital adrenal cortical hyperplasia have a deletion in the 21-hydroxylase gene. It is now possible to diagnose point mutations or deletions as early as the blastocyst stage using polymerase chain reaction (PCR) probes. Early diagnosis is very important, otherwise, salt-losing patients may be at risk of life-threatening conditions. In patients with a family history, an accurate diagnosis can start from the early pregnancy period. If intracavitary steroid hormone injection treatment is started at 6 weeks of pregnancy, it is very effective in preventing the masculinization of female fetal external genitalia. In the future, it may be possible to use normal embryo selection and implantation technology as a treatment strategy. After birth, it is possible to suppress ACTH secretion by supplementing an adequate amount of adrenal cortical hormones to inhibit the overproduction of androgens by the adrenal glands, maintain electrolyte balance, and prevent premature ossification of the epiphyses. During treatment, attention should be paid to growth and bone age. For patients with external genitalia malformations, surgical correction is required, including clitoral reduction surgery while preserving the clitoris' blood vessels and nerves, and vaginoplasty and vulvoplasty. After adulthood, pregnancy can be achieved by regulating the dose of adrenal cortical hormones to induce ovulation.

　　Congenital defects in certain adrenal enzymes lead to abnormal production of steroids. In females, it causes pseudohermaphroditism, with a large male reproductive organ. The enzyme defect is accompanied by excessive androgen products in the fetus, leading to normal development of the female Müllerian duct structures (i.e., ovaries, uterus, and vagina), while excessive androgens exert their masculinizing effects in the urogenital system and reproductive nodules, resulting in the connection of the vagina and urethra, a low and open clitoris, and often hypertrophied labia. In severe cases, there may be hypospadias and cryptorchidism. The adrenal cortex causes varying degrees of cortisol deficiency due to the majority of secretion being androgenic steroids with anabolic metabolism. Delayed treatment inevitably leads to growth retardation, which may be accompanied by coronary heart disease, leading to early death from myocardial infarction.

　　Bilateral congenital adrenal cortical hyperplasia can manifest asAdrenocorticotropic hormone (. Increased secretion of ACTH causes bilateral adrenal cortical hyperplasia. The hyperplastic cortex continuously synthesizes large amounts of androgens and salt皮质 hormones that cause hypertension.

　　Deficiency of 20-22 carbon chain enzyme leads to rare congenital lipoid adrenal hyperplasia, often with complete impairment of steroid hormone production. Without sufficient substitute treatment, infants may die early.

　　3β-hydroxysteroid dehydrogenase isomerase deficiency leads to synthesis disorders of progesterone, aldosterone, and cortisol, with excessive production of dehydroepiandrosterone. This unusual syndrome is characterized by hypotension, hypoglycemia, and male pseudohermaphroditism. Women are uncommonly hirsute with variable melanin deposition.

　　Insufficient or lack of 21-hydroxylase prevents the conversion of 17-carboxypregnenolone to cortisol, and the most common deficiencies have two forms:

　　1. Various types of sodium loss, low or lack of aldosterone;

　　2. Commonly, it is the non-sodium-losing type, with common symptoms such as hirsutism, masculinization, hypotension, and hyperpigmentation.

　　Deficiency of 17α-hydroxylase is most common in female patients, and some may present with low cortisol levels in adulthood, with compensatory increased ACTH. Primary amenorrhea, infantilism, and rare male pseudohermaphroditism are observed. Excessive secretion of salt皮质激素 causes hypertension, mainly due to increased 11-deoxycorticosterone.

　　Deficiency of 11β-hydroxylase inhibits the formation of cortisol and corticosterone, causing excessive ACTH release and deep melanin deposition. Excessive secretion of 11-deoxycorticosterone can cause hypertension, with no obvious sexual characteristic abnormalities.

　　Deficiency of 18-hydroxysteroid dehydrogenase leads to rare skin symptoms, which are caused by specific blockage at the final step of aldosterone biosynthesis. Therefore, patients may lose a lot of sodium in urine, leading to dehydration and hypotension.

　　After puberty, male characteristics such as hirsutism and amenorrhea are rarely found, and occasionally, male characteristics may appear in middle age, which is called adrenal cortical benign masculinization phenomenon due to the acquired mild enzyme abnormality of the adrenal cortex.

　　Newborn female infants may have severe hypospadias and cryptorchidism of the external genitalia, while boys are mostly normal at birth. In utero, the fetus has an excess of androgens, so there are already obvious abnormalities.

　　Untreated patients may experience hirsutism, muscular development, amenorrhea, and breast development, with male patients having abnormally large reproductive organs. Excess androgens inhibit the secretion of gonadotropins, leading to testicular atrophy. In extremely rare cases, the presence of hyperplastic adrenal cortical remnants in the testes can cause the testes to enlarge and become harder, with the majority of patients having no seminal fluid after puberty. Due to adrenal cortical hyperplasia, patients may experience a sudden increase in height between the ages of 3 to 8 years, much taller than their peers. Around the age of 9 to 10, excessive androgens can cause early epiphyseal fusion, stopping growth, and making the patients shorter than average when they reach adulthood. Both males and females have increased aggressive behavior and libido, leading to social and disciplinary problems, which are particularly prominent in some boys.

　　If bilateral congenital adrenal hyperplasia is diagnosed early, even before the organ malformation is corrected by surgery, it can be suppressed.Adrenocorticotropic hormone (. ACTH) secretion, the appearance can be normal, and development can be very good. Delayed treatment inevitably leads to growth retardation, can be complicated with coronary heart disease, and can die early from myocardial infarction. In some female pseudohermaphroditism, menstruation may occur after treatment. When the malformation is not serious or the patient may become pregnant and give birth after surgical correction.

　　The urinary 17-ketosteroid levels of patients with bilateral congenital adrenal hyperplasia are higher than those of normal individuals of the same gender and age. The level of urinary孕酮 increases early (this is more sensitive than the level of urinary 17-KS, because孕酮 is the precursor of androgens), and the increase in blood 17-hydroxyprogesterone level is the most sensitive indicator, suitable for children. Chromosome examination is normal, and X-ray examination will find early ossification of the bone age. Lateral urethro-vesical urography will show the vagina, urethra, and bladder. CT scan can see highly hyperplastic adrenal glands. Cystoscopy can see the vagina opening on the posterior wall of the urethra, and can also enter the vagina and see the uterus.

     The diet of patients with bilateral congenital adrenal hyperplasia should be light and nutritious, and attention should be paid to dietary balance. Eat more grains, and eat less salty and greasy foods. Eat more vegetables and fruits, and eat less meat and spicy刺激性 foods.

　　Early diagnosis of bilateral congenital adrenal hyperplasia is absolutely necessary. Rational treatment is to provide glucocorticoids, i.e., take dexamethasone 0.5～1.5mg orally at 11 p.m. each night to correct the deficiency and inhibitAdrenocorticotropic hormone (. The secretion of ACTH). Fludrocortisone can help maintain blood pressure and weight in patients with severe hyponatremia, and can be used at a dose of 0.05～0.3mg, depending on the severity of the disease and age. After development, surgery can be performed to separate the vagina from the urethra and position the vaginal orifice at the normal location in the perineum. If the clitoris is frequently erect, clitoridectomy may be considered. Estrogen should be administered with caution, or medication can be used for adjustment immediately after birth, which can help patients with pseudohermaphroditism maintain a female appearance and improve their psychological state.