J Pediatr Endocrinol Metab
November 2024
Objectives: Estrogen insensitivity syndrome (EIS) is a rare genetic disorder characterized by an autosomal dominant inheritance pattern. The disease results from a pathogenic variant in the (estrogen receptor 1) gene, leading to estrogen resistance in individuals possessing the 46, XX karyotype. The alpha receptor, which is predominant in peripheral tissues, is responsible for estrogen action.
View Article and Find Full Text PDFKey Clinical Message: Tumor-induced osteomalacia is a rare but potentially serious disease with nonspecific misguiding manifestations that can result in a wrong diagnosis and being treated for rheumatologic or other similar diseases. In patients with unexpected fractures, resistant musculoskeletal pains, and hypophosphatemia, this diagnosis should be considered by the physicians and approached through a complete history taking, physical exam laboratory, and radiologic evaluation to give the opportunity of on-time treatment to the patient.
Abstract: Tumor-induced osteomalacia (TIO) is an uncommon mesenchymal tumor that results in disproportionate phosphorus excretion, primarily leading to bone-related symptoms.
Background And Aims: Musculoskeletal manifestations (carpal tunnel syndrome, Dupuytren's contracture, etc.) may occur in poorly controlled and longstanding diabetes. In this study, we evaluated the relationship of musculoskeletal diseases with microvascular and macrovascular complicationsin patients with diabetes.
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