Endocrine causes of pediatric hypertension are relatively rare but important because of their distinct treatment options. Adrenal diseases accompanied by an excess of mineralocorticoids, glucocorticoids, and catecholamines are major causes of endocrine hypertension. Typical causes of mineralocorticoid-related hypertension include primary aldosteronism, congenital adrenal hyperplasia (11β- and 17α-hydroxylase deficiencies), and apparent mineralocorticoid excess. Cushing syndrome and pheochromocytoma/paraganglioma are the primary causes of glucocorticoid- and catecholamine-related hypertension, respectively. This review provides an overview of the diagnostic evaluations, including hormonal assays and imaging studies, used to identify the underlying causes of pediatric endocrine hypertension, focusing on adrenal disorders. It presents details regarding the major adrenal disorders and recommended therapeutic approaches, emphasizing the importance of early detection and disease-specific management to prevent cardiovascular and metabolic complications in affected children.
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Diamond-Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome that manifests as anemia in early infancy. Blood transfusion is a critical factor for survival. However, blood transfusions can result in iron overload. Endocrinopathies, hepatic cirrhosis, and cardiomyopathy are the most common complications of iron overload. Here, we report the case of an 18-year-old boy with DBA with hyperglycemia, short stature, and absence of puberty. The patient showed endocrine dysfunction associated with iron overload caused by repeated transfusions. He was eventually diagnosed with acquired hypopituitarism and was placed on testosterone replacement therapy. Endocrine dysfunction is common in patient with DBA, with an early manifestation of symptoms, even in teenage years. Patients receiving corticosteroid treatment or those in remission may also exhibit endocrine dysfunction, although its prevalence is the highest among chronic transfusion patients. Ongoing monitoring and evaluation of growth and pubertal development are needed for better management of these disorders.
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