Endocrine Abstracts

Introduction: Insulin autoimmune syndrome (IAS) is a clinical condition characterized by the presence of autoantibodies to insulin or insulin receptors in patients not previously treated with insulin. This syndrome has been reported mainly in Asia, and it is a rare cause of hypoglycemia in Caucasians. So far there are no reports of IAS in patients with type 2 diabetes mellitus never treated with insulin.Case report: The authors describe a 59-year-old Cau...

Protein ubiquitination modulates many physiological processes (e.g. cell proliferation). The ubiquitin-based signalling consists in both proteolytic and non-proteolytic functions: the first ones require modification of the target protein with polyubiquitination, a modification that induces the activation of the 26S-proteasome, whereas the second ones can be based on protein monoubiquitination. The recognition of ubiquitination diversity is dependent on specific Ub receptors th...

Osteoporotic fractures are the main clinical manifestations of skeletal fragility and are associated with decreased survival and impaired quality of life in the general population. At the beginning of COVID-19 spread in Europe, despite several studies investigated COVID-19 clinical characteristics, no data were reported on the prevalence of vertebral fractures (VFs) in patients affected and disease impact on osteoporotic patients. We performed a retrospective study at San Raff...

Introduction: Type 1 autoimmune polyglandular syndrome is a rare entity, presenting typically during childhood and comprising a variable combination of autoimmune endocrine and non-endocrine diseases that differ in their immunological features. This phenotypical heterogeneity may difficult the identification of this syndrome.Clinical case: 33 year-old female, presenting with secondary amenorrhoea at the age of 13, and by that date diagnosed with hypergon...

IntroductionMyxedema coma is a rare condition with an estimated incidence of 0.22 per million per year in the western world and a mortality rate around 30–50%. It can occur as the result of severe longstanding hypothyroidism or be precipitated by an acute event, such as infection. We present a rare case of myxedema coma in an elderly woman with SARS-CoV-2 infection.Case reportAn 82-year-old woman, with n...

Introduction: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of disorders that have in common end-organ unresponsiveness to parathyroid hormone (PTH). The most frequent form, PHP type 1, results from different genetic/epigenetic changes in the GNAS gene.Case 1: Woman, 25 years-old, sent to Endocrinology from Genetics consultation after her daughter had been diagnosed with PHP type 1a (heterozygous pathogenic variant at exon 13 of...

Introduction: Thyrotoxicosis after total thyroidectomy (TT) is mostly iatrogenic. Rarely, an hyperfunctional thyroid remnant or ectopic tissue may be the cause. We report a case of Graves’s disease in a mediastinal thyroid mass presenting 7 years after TT for nontoxic goitre.Case report: A 67-year-old woman presented with palpitations, fatigue and weight loss. She had a history of TT for nontoxic multinodular goitre at the age of 60 without any sign...

Introduction: Cyclic Cushing syndrome (CCS) involves rhythmic fluctuations in ACTH secretion resulting in a cyclic variation of adrenal steroid production.Case presentation: A 37-year-old woman was referred to our Pituitary Clinic in 1999, for evaluation of galactorrhea and irregular menses that had started four months ago. She also complained of depression, facial hirsutism, alopecia and progressive obesity. Blood pressure was normal. Endocrinological e...

Introduction: There are limited data on the incidence and prevalence of pituitary adenomas (PA). Although classically considered rare, systematic assessments from autopsy and radiological studies have shown a prevalence of 17% in the general population.Objective: We describe the epidemiologic of PA in Braga, the third most populous district of Portugal (860 000 inhabitants, 2673 km2), over the last 20 years.Methods: We r...

Introduction: Hyperprolactinemia is associated with suppression of the hypothalamic-pituitary-gonadal axis and it’s a frequent cause of infertility, occurring in about 30–40% of infertile women. The bioactive fraction of prolactin is a 23-kDa monomer. However, there are other isoforms with reduced or absent bioactivity, such as macroprolactin, which can be detected by the precipitation reaction by polyethylene glycol. Macroprolactinemia should be suspected in the pre...