Endocrine Abstracts

Procalcitonin (PCT) is a sepsis diagnostic marker and mortality predictor, although its elevation can be related to other diseases such as medullary thyroid carcinoma (MTC). A 72-year-old woman was transferred to the intensive care unit of our institution from another center. One week before, she had been admitted with a clinical picture of progressive malaise, fever, and dyspnea. Weeks before her admission, she had consulted for dyspnea, anorexia, asthenia, and weight loss. I...

Rothmund-Thomson syndrome (RTS) usually presents with physical stigmata (poikiloderma, ectodermal dysplasia, juvenile cataracts…) and it´s associated with malignancies in patients with homozygous or compound heterozygous mutations in the RECQL4 helicase gene (RTS-II). Neoplasms include osteosarcoma in childhood and skin cancer later in life, with occasional malignancies affecting other tissues (leukemia, lymphoma and gastrointestinal adenocarcinomas). To ou...