Endocrine Abstracts

Introduction: Germline mutations in tumour suppressor gene PTEN cause heterogeneous phenotypes, that comprise the spectrum of PTEN-hamartoma tumour syndrome (PHTS). Manifestations include macrocephaly, developmental delay, cutaneous lesions, intestinal polyposis and increased risk of neoplasms. Thyroid nodules are identified in about 75% of patients and follicular cell-derived cancer affects 35% of cases, some of which diagnosed as early as 7 years old.C...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by hypercalcemia due to an unregulated overproduction of parathyroid hormone (PTH). PHPT is most commonly caused by a single adenoma of the parathyroid gland, usually located just behind the thyroid gland. However, in rare cases, they can have an ectopic location, including intrathyroid adenomas. In some cases, the measurement of intact PTH in the wash out fluid obtained by US-Fine Ne...

Introduction: About 50% of patients with medullary thyroid carcinoma (MTC) have persistent or recurrent disease after surgery.For a calcitonin (ct) value greater than 150 pg/ml, it is suggested by international guidelines performing additional imaging exams (AIE) for evaluating the presence of distant metastasis. It is often difficult to assess the presence of nodal disease and secondary liver lesions (often miliary) by ‘morphological’ imaging ...

Introduction: Treatment of differentiated thyroid carcinoma (DTC) remains a challenge in the setting of locally advanced or metastatic disease refractory to radiodine (RAI) therapy. SELECT trial demonstrated that Lenvatinib improved progression free survival (PFS) comparing to placebo.Objective: Our aim is to report the efficacy and safety of lenvatinib in our population with aggressive DTC.Methods: We retrospectively reviewed the ...

Introduction: Cushing Syndrome have long been recognised to predispose patients to infection diseases, a consequence of the immunosuppression induced by corticosteroids. There is a predisposition to viral, bacterial, parasitic and especially fungal diseases. Opportunistic infections, particularly invasive fungal infections, represent a serious complication associated with an increased risk of mortality.Clinical case: We represent a 55 years-old woman, po...

Introduction: Thyroglobulin (Tg) measurement in needle washouts from fine-needle aspiration biopsies (FNA-Tg) increases the sensitivity of lymph node (LN) metastasis diagnosis in differentiated thyroid cancer (DTC). However, the cutoff value for FNA-Tg has not been clearly established and there are large differences between clinical studies, which hinders its interpretation. Our study aimed to investigate the optimal cutoff value of FNA-Tg and evaluate its utility in the diagn...

Introduction: Familial partial lipodystrophy (FPL) is an autosomal dominant disease characterized by selective loss of subcutaneous fat from the extremities and gluteal region, with lipohypertrophy of the face, neck and trunk. It is usually tightly linked with severe metabolic complications. FPL type 3 results from peroxisome proliferator-activated receptor gamma (PPARG) mutations.Case presentations: Fifty three-year-old woman, referred to endocrinology ...

Introduction: Type 1 diabetes (T1D) is an important endocrine disease in the pediatric age group. The shift from pediatrics to adult health care providers is a critical period for adolescents with diabetes.Objective: Characterization of a pediatric population with T1D moved to adult health care between January/2001–April/2015.Methods: Cross-sectional study with retrospective analysis of medical records.R...

Introduction: Fragility fractures are the main consequence of osteoporosis. It results in increased morbidity and mortality. The incidence of fractures has been increasing steadily in Portugal. Hip fragility fractures have been estimated to occur in up to 572/100,000/year in women and up to 232/100,000/year in men.Methods: A retrospective study of hospitalized patients for femoral neck fracture in our institution in 2018 was performed to evaluate their p...

Introduction: The combination of chemotherapy with prophylatic cranial radiotherapy (C-RT) allowed the improvement of survival rates of pediatric acute lymphoblastic leukemia (ALL) survivors while putting them at risk of develeping long-term endocrine deficiencies, like growth hormone deficiency (GHD).Current evidence suggests that the prevalence of GHD in children treated with radiation doses ≥ 30–50 Gy for non-pituitary brain tumors is...