Adrenal hyperplasia in women

Congenital adrenal hyperplasia is also known as adrenergic organ syndrome or adrenergic perversion syndrome. This is mainly because of the defects in the enzymes necessary for the production of adrenal hormones, which leads to abnormal production of corticosteroids. So what are the symptoms of adrenal hyperplasia in women? Let’s quickly discuss the detailed introduction of the article content.

The cause of the disease has not yet been established. Most experts and scholars do not agree with the pathogenesis of the transition from ACTH dependence to independence. It has been confirmed that AIMAH can be caused by factors other than ACTH. At present, it has been found that abnormal expression of gastric inhibitory peptide (GIP), arginine vasopressin (AVP), and β2-adrenergic kinase in the presence of adrenaline can cause AIMAH.

(I) Causes of the disease

Essentially all CYP21 mutations are the result of recombination (not interchange or conversion) between CYP21 and CYP21P. About 20% of the sudden change allele bands lack sudden changes. About 75% of alleles that suddenly change are the result of genetic changes. 32% of salt-losing patients had a large missing or abrupt change in one allele, and 56% had a point mutation in intron 2 on one allele, resulting in abnormal RNA splicing. This sudden change resulted in a complete or substantially complete loss of 21-hydroxylase specificity, as confirmed in in vitro experiments. In the simple male trait type, the most common mutation allele (35%) is a substitution mutation (Ile to Asn) at the 172nd amino acid codon, which has only 2% to 11% of the specificity of normal 21-hydroxylase. The most common (39%) abrupt change in the nonclassic phenotype was a change in carbohydrate 281 (Val to Leu).

There is a high correlation between genotype and gas performance, so DNA analysis can predict enzymatic reactions to a certain extent and then infer clinical symptoms.

2. Pathogenesis

Adrenaline produces 3 types of steroid hormones: blood pressure hormone drugs (aldosterone is the most important one); blood mineralocorticoids (aldosterone is the most critical one); androgen supplementation. Aldosterone metabolism has an autonomic nervous system and is particularly important under stress conditions; its deficiency can cause adrenal crisis including hypotension and hypoglycemia, which can cause death without immediate treatment. Excessive production of testosterone can cause masculinity in the uterus, and female babies are born with hermaphroditic genitals. At an older age, both men and women produce testosterone too early. The obstruction of the conversion of adrenaline and the sex hormone testosterone can cause men to lack masculine characteristics and lack of puberty. In CAH, steroid hormone synthase specificity is reduced to varying degrees, resulting in abnormal metabolism of hormone drugs, mineralocorticoids, and estrogens, leading to varying degrees of clinical symptoms. The degree of enzymatic degradation and clinical performance are also determined by the severity of the genetic mutation and the type of mutation. In order to understand the clinical symptoms of CAH as quickly as possible, it is necessary to briefly understand the biochemistry of adrenal steroid hormones and related genetic conditions.