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The mystery of 11β-hydroxylase deficiency: Why does it cause changes in the reproductive organs of infants?
11β-hydroxylase deficiency (11β-OH CAH) is a congenital adrenal hyperplasia caused by the deficiency of 11β-hydroxylase, an enzyme that controls cortisol synthesis, resulting in excessive production of androgens. This disease has a significant impact on the development of the reproductive organs of newborns. The complexity of this disease lies not only in its physiological effects, but also in its impact on gender identity and gender roles in society. This article will delve into the clinical manifestations, pathophysiology, diagnostic process, and management of this disease.
Clinical manifestations11β-OH CAH may cause the reproductive organs of female fetuses to become androgenic due to excessive production of androgens.
In this disease, potassium deficiency in the adrenal glands, which plays an important role in cortisol synthesis, leads to excess production of androgens, including dehydroepiandrosterone (DHEA), androstenedione, and testosterone
. This results in varying degrees of variability in the fetal and postnatal periods. In a female fetus, the external genitalia may be of unknown sex, while the internal genitalia usually develop normally.PathophysiologyIn this disorder, the external genitalia of an XX (genetically female) fetus may appear more masculine than that of a normal male fetus, while an XY (genetically male) fetus generally has no obvious deformities.
11β-hydroxylase plays an important role on the inner mitochondrial membrane of the adrenal cortex by converting 11-deoxycorticosterone to corticosterone and 11-deoxysteroids to cortisol. This loss of function results in adrenal hyperplasia, with a persistent increase in ACTH. This surge in adrenaline levels further causes symptoms such as high blood pressure.
Diagnostic Process
The diagnosis of 11β-OH CAH relies primarily on blood tests for high levels of 11-deoxycortisol and 11-deoxysteroids. Compared with other forms of congenital adrenal hyperplasia, this disorder is easily recognized by the presence of hypertension. Early genetic testing can also effectively identify different mutations of the disease and help provide treatment in a timely manner.
The diagnosis and management of this disorder are similar to those of 21-hydroxylase deficiency, but mineralocorticoid supplementation is not required.
Management methods
The mainstay of treatment for 11β-OH CAH is lifelong glucocorticoid replacement therapy to prevent glandular insufficiency and reduce excess androgen production. Treatment of salt loss in the neonatal period usually includes intravenous fluids and high-dose hydrocortisone. As we age, high blood pressure can be improved by controlling hormone production.
ConclusionAs a rare congenital disease, 11β-hydroxylase deficiency not only causes many physiological changes, but also involves the patient's mental health and social adaptation. As our understanding of this disease deepens, an important question that healthcare professionals will need to face is how to better care for and support families and patients affected by this disease?
