The care of children with inborn androgenital syndrome caused by a deficiency of 21-hydroxylase and their families — the analysis of selected clinical cases

Background. Congenital adrenal hyperplasia (CAH) is a heterogeneous disease entity, which is caused by abnormal enzyme steroidogenesis. This disorder begins during fetal and neonatal revealed. It is a congenital and inherited autosomal recessive disorder. Symptoms of this disease include hermaphroditism alleged female sexual development disorders and somatic, hypertension, salt wasting syndrome and other associated disorders. Early prenatal diagnosis of CAH allows the introduction of treatment with dexamethasone in pregnant women to prevent virilization of female fetuses. The aim of treatment is to stop virilization symptoms, normalization of blood pressure and the growth process, to achieve normal growth and adult body proportions and getting the proper development and function of the gonads.

Aim. The aim of this work is the analysis of selected cases of CAH in terms of the diversity of the clinical picture, depending on the period of initiation of therapy and presentations the roles and tasks of nurses in terms of nursing - educational taken the child with CAH and his family.

Material and methods. The study involved two girls with CAH who were treated in the Department of Paediatrics, Haematology, Oncology and Endocrinology Medical University of Gdansk. The work concerns the study of the individual case and includes an assessment of the clinical status of children.

Results and conclusions. Award of genetic counseling and early diagnosis of pregnancy after dexamethasone supplementation prevents fetal virilization. Proper care of the child allows for good health and improves the quality of life of the child and his family.