Endocrine Abstracts

Introduction: Genetic testing for Familial Endocrine Syndromes has an important role in diagnosis, timing/extent of surgery, and follow-up. Our survey explored experiences and attitudes towards genetic testing in the UK and Abroad.Methods: Attendees of 2022 Conferences of ESES, BSPED, SfE, BAETS and AsianAES were asked to participate in an online survey (31 questions on demographics; genetic testing availability and expe...

Introduction: The presence of heterophilic antibodies resulting in assay interference could lead to falsely high or low values in biochemical investigations. We present a case of a 5-year-old girl who had persistently high level of TSH despite Levothyroxine treatment.History: A five-year girl was found to have an elevated plasma TSH level (24.29 mU/L) with normal Free T4 (both measured using Abbott Alinity immunoassay) w...

Cushing’s syndrome (CS) remains a diagnostic challenge due to an overlap with other clinical conditions such as pseudo-Cushing, which can be triggered by major depression, alcoholism, and metabolic syndrome. The most prevalent cause of CS is iatrogenic. When Cushing’s syndrome is caused by endogenous cortisol secretion, most often an ACTH-secreting pituitary adenoma is the culprit and the syndrome is hence referred to as Cushing’s disease. In very rare cases CS ...

Background: Primary hyperaldosteronism (PA) is a prevalent, but underdiagnosed syndrome. Diagnosis and treatment have been relatively constant since the development of the latest Endocrine Society guidelines in 2016.Study objective: Baseline characteristics, treatment and follow-up of subjects with PA referred for adrenal venous sampling (AVS) in a tertiary hospital since 2009 are presented.Results: Thirty five subjects (M/F: 17/18...

Background: Adrenocortical carcinoma in childhood is a rare tumour which accounts for about 0.2% of all paediatric malignancies. Affected children usually present with virilization, cushingoid features, and/or mineralocorticoid excess. We present a boy with adrenal carcinoma presented with virilization and unusually suppressed cortisol at initial presentation.Case report: A two-year-old boy presented with pubic hair, acne, and increased penile growth wit...

Tributyltin (TBT) is a biocide organotin compound widely used as an antifouling in boat paints. This substance is a factor of contamination to water and food, especially marine fish. As an endocrine disruptor, TBT can interact with hormonal pathways and can induce gonadal dysfunction and glycemic dyshomeostasis; however, the effects caused by maternal exposure to TBT are scarce. Here, we investigate maternal exposure to low dose of TBT, considered safe, during pregnancy and la...

Caffeine crosses the placenta and mammary barrier and can affect the offspring metabolism and endocrine system from heavy caffeine users. Here, we tested the impact of a safe dose of maternal caffeine (200-300 mg/day) on plasma hormone of offspring from both sexes at different ages (weaning, puberty and adulthood). For this, pregnant Wistar rats received caffeine (25mg/kg/day) by gavage or vehicle during gestation (GEST group), lactation (LACT group) or both periods (G+L group...

Introduction: Amyloidosis is a disease characterized by the accumulation of an amorphous proteinaceous material, known as amyloid, in various organs and tissues of the body. Amyloid goiter is a remarkably rare pathologic condition due to thyroid massive amyloid infiltration of amyloid light chain (primary) or amyloid A (secondary amyloidosis) proteins. Case: 54 year-old male, with known history of chronic tophaceous gout medicated with anakinra and predn...

Introduction: The small-cell neuroendocrine prostate carcinoma (SCPC) is rare, highly aggressive and usually transforms from prostate adenocarcinoma (PAC) after androgen deprivation therapy (ADT).Case Report: A 66-year-old man had a three-year history of high-grade PAC with high burden disease (abdominal lymph node and bone metastasis) at presentation (09/2019). On the initial staging evaluation, the CT scan documented a 20 mm left adrenal nodule compati...

Introduction: The 22q11.2 deletion syndrome or DiGeorge syndrome (DGS) is rare and the diagnosis in adults is uncommon. The phenotype is highly heterogeneous and of variable severity, including hypoparathyroidism and epilepsy.Case Report: A 26-year-old man was admitted in the emergency room for inaugural tonic-clonic seizure. He had history of cognitive impairment and learning difficulties. Neurologic examination, brain CT and basic analysis were irrelev...