Endocrine Abstracts

Introduction: Congenital pituitary stalk interruption syndrome (PSIS) is a rare condition, characterized by the triad (not always complete): absence/hypoplasia of the pituitary stalk, hypoplasia/aplasia of the anterior pituitary and absence or ectopy of the posterior pituitary high signal intensity, on magnetic resonance imaging (MRI). PSIS implies a permanent GH deficiency, in 77% associated with other pituitary hormones deficiencies. The aetiology remains uncertain, but some...

Introduction: Type 1 diabetes mellitus (T1DM) and multiple sclerosis (MS) are organ-specific autoimmune diseases. Their association, first described in a study in Sardinia, left questions about their clustering, clarified by the Familial Autoimmune and Diabetes Study, which showed for the first time an highly increased prevalence of MS in adults with T1DM, reinforced by further epidemiological studies that also revealed increased risk of T1DM in MS patients.<p class="abste...

Introduction: Primary thyroid angiosarcoma (TAS) is a rare malignancy that arises from endothelial cells, and nearly all reported cases originate from the Alpine region of central Europe. Most of the patients are female, elderly, with a history of goiter. Generally, TAS arises as a painless infiltrating mass and patients present with compression symptoms due to the brisk tumor growth. Other TAS clinical presentations are varied and highly non-specific. Metastasis occur early i...

Introduction: Hypercalcemia can be caused by a variety of pathologies/factors. Vitamin D plays a central role in calcium homeostasis, where a tight control of its metabolism is necessary. Inadequate 24-hydroxylase-enzime (CYP24A1) activity leads to failure of 25-hydroxyvitamin and 1,25-dihydroxy-vitamin D3 inactivation, resulting in hypercalcemia.Case report: An asymptomatic, 22-year-old woman was admitted in an Endocrinology appointment for evaluation o...

We present the case of a 24-year-old melanodermic male patient from Angola referred to the Endocrinology department of a central hospital, in Lisbon, Portugal. He presented skeletal deformities and joint laxity, and numerous mucosal neuromas of the oral cavity since early childhood. Recurrent diarrhea was also reported but elevated blood pressure was not observed at that time. Multinodular goiter (nodules>40 mm) was identified in physical examination and microcalcification...

We report the case of a Caucasian woman presenting with a challenging differential diagnosis of ophtalmopathy. The patient was diagnosed with Graves’ disease during postpartum at the age of 28 (TSH<0.001 U/ml; FT3 6.7 ng/dl; FT4 2.2 ng/dl; TSAb 15 U/l). Besides 16 pack-year smoking history, no other previous disease was known. At examination, exophthalmos grade I/III with bilateral lid retraction was evident. Persistency of the disease despite optimal use of medical a...

Introduction: Cushing’s disease (CD) is responsible for 80% of endogenous Cushing’s syndrome (CS). However, distinguishing the cause of ACTH-dependent CS – CD vs ectopic CS – can be extremely difficult. Bilateral inferior petrosal sinus sampling (IPSS) has the highest diagnostic accuracy in this evaluation.Objectives: The aims of this study were to determine the accuracy of bilateral IPSS in the differential diagnosis of ACTH-dependen...