Endocrine Abstracts

Introduction: Primary hyperparathyroidism is the most common cause of hypercalcemia in the outpatient setting, and a single parathyroid adenoma is usually the culprit. Clinical presentation is commonly dictated by hypercalcemia. Symptoms can range from mild non-specific malaise and gastrointestinal disturbances, through bone disease, kidney stones, cardiovascular and neuromuscular dysfunction to, ultimately, coma and death. However, the vast majority of patien...

Postpartum thyroid dysfunction occurs in 5–10% of women in the general population within one year of delivery. The prevalence of postpartum Graves’ disease is estimated at 0.54%. Postpartum thyroiditis is much more common. Differential diagnosis is essential for an adequate treatment. Radioactive iodine uptake can be useful to establish the etiologic diagnosis, but is contraindicated during lactation. Elevated titers of antithyrotropin receptor antibodies (TRAbs) are...

Introduction: Hypothyroidism can affect the nervous system, commonly causing mono and polyneuropathies which show a variable frequency and pattern. Its mechanisms are not fully understood. Symptoms usually correlate better with the duration of the dysfunction rather than with its severity and typically improve significantly after medical therapy.Case report: A 58-year-old woman was admitted at our hospital with a one-year history of progressive weakness ...

Mutations in the Seipin/BSCL2 gene cause either type 2 congenital generalized lipodystrophy (BSCL) or dominant motor neuron diseases. However, we recently discovered a c.985C>T mutation in the BSCL2 gene that results in a novel fatal neurodegenerative syndrome (celia encephalopathy). This mutation induces an alternative splicing which results in skipping of exon 7 and a reading frame shift (Guillen-Navarro et al. 2013 J Med Genet <strong...

Myostatin (MSTN) is a negative regulator of skeletal muscle growth, while androgens are strong positive regulators of muscle growth and strength. Follistatin (FS) is a binding protein which inhibits MSTN action. Evidences suggest that MSTN and testosterone actions in muscle may be associated. However, the mechanisms of androgens actions are not fully elucidated. The objective of this study was to evaluate the influence of exercise training in the expression of MSTN and FS in o...

Purpose: A combined model of clinical, biochemical and radiological variables could help to predict autonomous cortisol secretion (ACS) in adrenal incidentalomas (AI).Methods: We analyzed retrospectively 100 patients diagnosed of AI between 2011 and 2015. AI was defined as an adrenal mass>1 cm, accidentally discovered by radiologic examination. ACS was ruled out (ACS-) by serum cortisol post-dexamethasone suppression test (Nugent) <3 μg/dl, ...

Introduction: Familial neurohypophyseal diabetes insipidus (FNDI) is a rare form of central diabetes insipidus (CDI) characterized by childhood-onset progressive polydipsia and polyuria due to mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene.Case description: Two male siblings were referred at 1 month of age to exclude CDI owing to a family history of CDI in the father and paternal grandfather. The proband was the fa...

Introduction: Inferior petrosal sinus sampling (IPSS) has been considered to be the gold standard for differential diagnosis of Cushing’s Disease (CD) and ectopic ACTH secretion (EAS).Aim: To describe the experience of our centre in performing IPSS, its safety and efficacy; assess remission rates from transphenoidal surgery and clinical course; approach to the difficulty in the etiological diagnosis of ACTH-dependent Cushing’s Syndrome.<p c...

Introduction: Thyrotoxic crisis is a rare endocrinological emergency with high mortality and it is more frequent in Graves’ disease.Clinical case: A 66-year-old women with schizophrenia was admitted to the Emergency Department due to altered state of consciousness, fatigue, constant moaning interspersed with unusual psychomotor agitation, heteroaggressiveness, diarrhea and anorexia. Lack of compliance with her psychiatric medication, new delusional ...

Aim: To evaluate the prevalence and incidence of type 2 diabetes in patients with nonfunctioning adrenal incidentalomas (NFAI) and autonomous cortisol secretion (ACS) coming from a cohort of adrenal incidentalomas consecutively evaluated in a tertiary hospital in a predefined period (2013-2020).Methods: In this retrospective study, adrenal incidentalomas ≥1cm with ACS and NFAI were included. ACS was defined by a post-dexamethasone suppression test ...