Ethical Aspects of Congenital Adrenal hyperplasia

Background. Individual variability in the human population is determined by the polymorphism of genetic material and the influence of environmental factors. Pathological changes in hereditary structures, such as chromosomal aberrations or mutations in genes encoding key proteins, can induce disturbances in the morphofunctional organization of the body. A significant portion of hereditary pathology is caused by enzyme defects leading to dysmetabolism. The phenotypic manifestations of such diseases are complex, including both visible anomalies and clinically latent dysfunctions of internal organs. One such disorder is congenital adrenal hyperplasia (CAH), also known as adrenogenital syndrome and congenital adrenal cortex hyperplasia. CAH is a rare autosomal recessive disorder of steroidogenesis caused by hereditary enzyme deficiency. The pathogenesis of the disease consists in reduced cortisol synthesis, which, through negative feedback, causes chronic hypersecretion of adrenocorticotropic hormone (ACTH). Persistent ACTH stimulation leads to compensatory adrenal hyperplasia and excessive accumulation of precursors shunted into the androgen synthesis pathway.

Case Report. We present our own clinical observation of a child with the salt-wasting form of CAH accompanied by virilization of the external genitalia. The birth of a child with atypical external genitalia (intersex variation), associated with sex uncertainty, typically becomes a serious psychological stress for the family. The need for lifelong hormone replacement therapy and the risk of acute life-threatening conditions (adrenal crises) create persistent anxiety in the parents of patients.

Conclusion. Educational work and psychological support for the parents of patients should become an important therapeutic aspect contributing to the improvement of the child’s quality of life and increasing adherence to treatment.

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