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Genetic Endocrine Conditions

Meaning

Genetic Endocrine Conditions are a distinct category of disorders that result from inherited or spontaneous de novo mutations in specific genes encoding for hormones, their corresponding receptors, or the critical enzymes involved in hormone synthesis, transport, or metabolism. These conditions invariably lead to primary dysfunction within the endocrine glands or peripheral tissues, resulting in chronic and often severe imbalances in systemic hormonal signaling. Clinical management requires precise diagnosis of the molecular defect, as seen in examples like congenital adrenal hyperplasia.