Endocrine Abstracts

Objective: Incidence of paediatric type 2 diabetes appears to be increasing. We describe our cohort of paediatric type 2 diabetes at Barts Health NHS Trust in East London (UK) over the period 2008-2018 to gain insight in incidence, complications and outcomes.Methods: Retrospective cohort study. Data collection from Twinkle (electronic database for diabetes) and paper notes.Results: Fourty patients (25 female) were diagnosed with T2...

Neuroendocrine neoplasias (NENs) are a heterogeneous group of tumors that differ in appearance, growth patterns, and clinical symptoms and develop from neuroendocrine cells and, accordingly, unusually similar cytological characteristics. Pheochromocytoma is considered as not epithelial type of NENs. We would like to present a clinical case of pheochromocytoma with difficulties in laboratory diagnosis and morphological verification. Female patient P., 60 years old, for 10 years...

Background: Chronic hypoparathyroidism is a relatively rare disease associated with various complications. The analysis of large databases of patients with chronic hypoparathyroidism is a necessary tool to enhance quality of medical care, as well as to determine the therapeutic approaches and prognostic markers of the disease.Aims: To describe complications associated with chronic hypoparathyroidism and determine predictors of their development according...

Objective: Neurofibromatosis type 1 is an autosomal dominant inherited neurocutaneous condition characterized with multipl cafe-au-lait spots, neurofibromas, predisposition to malignancies, and the incidence of disease is 1:3000. Patients are diagnosed according to diagnostic criteria and 97% of the patents meet the criteria before 8 years of old. Diagnosis and follow-up of patients for manifestations of neurofibromatosis is important for early diagnosis and treatment of malig...

Background: Parathyroid cancer (P?) in children is extremely rare, more often sporadic, but may be associated with a germline mutation. The only effective treatment is surgical approach due to the chemo-radio-resistance of PC.Clinical case: A 6-years-old girl presented with weakness, gait disturbance, pain in the limbs, an X-shaped curvature of the legs. At the age of 12, the patient’s well-being worsened sharply. The laboratory examination revealed...

Carney complex is a rare hereditary syndrome with an autosomal dominant inheritance pattern that manifests itself with a set of specific symptoms. Case presentation. 32-year-old woman was admitted to the endocrinological hospital with an active stage of acromegaly. From the anamnesis it is known that at the age of 11, the height was 172 cm. The diagnosis of acromegaly was established at the age of 28 years: IGF-1 673.8 ng/ml (78–311), pituitary gland with para(d)-sellar s...

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: To access clinical charact...

Background: Graves’ disease (GD) is the commonest cause of primary hyperthyroidism in iodine-sufficient areas. First-line treatment is a 12-18 month course of anti-thyroid drugs (ATD). However, around 50% of GD patients will relapse, requiring further assessment and definitive treatment with radioactive iodine or thyroidectomy. Identifying risk factors that predict relapse or treatment failure after stopping ATD is important in guiding management. Several risk factors hav...

Objective: The SH2B3 gene encodes the src homology-2B adaptor protein 3, also known as lymphocyte adaptor protein (LNK), and is a negative regulator of T lymphocyte activation and the cytokine signalling pathways involved in inflammation and haematopoiesis. rs3184504, a non-synonymous SNP (R262W) in exon 3 of the SH2B3 gene, has been associated with numerous autoimmune conditions including type 1 diabetes, rheumatoid arthritis and coeliac disease. Th...

Background: Congenital adrenal hyperplasia (CAH) is the commonest genetic endocrine disorder, affecting 1 in 18 000 UK births. The 2010 CaHASE Study identified a myriad of health problems associated with CAH and its treatment, and a lack of consensus on treatment strategies in adults. Endocrine Society guidelines (2010, revised 2018) have since been published to support management. As one of the original CaHASE centres, we have audited our recent practice against these new sta...