Searchable abstracts of presentations at key conferences in endocrinology

ea0083domno1 | Diabetes, Obesity, Metabolism and Nutrition | EYES2022

Relation of HLA system genes in patients with type 1 diabetes and other autoimmune diseases

I Lekic , R. Marusic , S. Marczi , T. Bacun

Background: Type 1 diabetes mellitus (T1DM) is caused by destruction of pancreatic beta cells. Children and adolescents with type 1 diabetes have an increased risk of developing other autoimmune diseases, most commonly autoimmune thyroiditis and celiac disease.Objectives: To examine the frequency of individual human leukocyte antigen (HLA) alleles in people with T1DM and associated autoimmune (AI) diseases of the thyroid, digestive system, and skin, and ...

ea0083rdp2 | Reproductive and Developmental Endocrinology | EYES2022

Late-discovered mosaic Klinefelter syndrome with severe osteoporosis and obesity

I Samle , J Andric , M Mustapic , V Pandzic Jaksic

Background: Bone mineral density measurement sometimes reveals osteoporosis that is a consequence of undiagnosed or neglected long-standing health disorders. These secondary causes of osteoporosis should be carefully investigated, especially in men.Case Presentation: A 63-year-old male complained of back pain and was referred to endocrinology clinic due to a poor densitometry finding indicating osteoporosis. He presented with severe obesity (body mass in...

ea0083pnp2 | Pituitary and Neuroendocrinology | EYES2022

An unusual cause of hypopituitarism with An even more unusual presentation – a case report

K Stepanovic , T Icin , I Bajkin , M Manojlovic , M Lekin

Background: Hypopituitarism is a rare clinical condition which can present as partial or complete absence of pituitary hormones. The most common cause is a sellar or parasellar mass, particularly tumour, and the golden standard for differential diagnosis is magnetic resonance imaging. Intrasellar aneurysm is an unusual cause of hypopituitarism with an estimated incidence of 0,17% of cases.Case presentation: We report a case of a 72-year-old male who was ...

ea0085p27 | Gonadal, DSD and Reproduction | BSPED2022

Delayed puberty is very common in boys with duchenne muscular dystrophy on daily glucocorticoid-implications for management and age to initiate testosterone

Denker M , Dunne J , Horrocks I , Joseph S , Wong SC

Objectives: Delayed puberty is thought to be common in boys with Duchenne muscular dystrophy [DMD]. To date, studies addressing its frequency are not available. This study aims to report the frequency of delayed puberty in DMD from clinical examination.Methods: All boys with DMD aged at least 14 years in January 2022 known to the Glasgow paediatric neuromuscular service (2015-2022) were included. Thirty-seven boys were identified. All 37 boys had at leas...

ea0064034 | An unusual case of pubertas tarda: IGSF-1 deficiency syndrome | BES2019

An unusual case of pubertas tarda: IGSF-1 deficiency syndrome

Matthys I , Taes Y , Callewaert B , De Schepper J

Background aim of the work: IGSF-1 encodes a plasma membrane immunoglobulin superfamily glycoprotein that is abundant in the pituitary and testis. Loss-of-function causes an X-linked syndrome which is mainly characterized by congenital hypothyroidism and macroorchidism.[1,2] Because of its relatively recent discovery and its very rare incidence, the time to diagnosis is often long. We present a case of IGSF1 deficiency case where it took 6 years before diagnosis was made. With...

ea0062p22 | Poster Presentations | EU2019

A rare variant of Hashimoto’s thyroiditis

Eid Hatem , Andrabi Basharat , Kurera I , Bano G

HashimotoÂ’s thyroiditis (HT) is the most common inflammatory condition of the thyroid gland. In addition to the classic variant of HT, several other subtypes have been identified, such as the fibrous variant (HTFV).Case history: A 38 years old man noticed a rapidly enlarging lump in his neck month ago. This resulted in discomfort with choking sensation and mild dysphagia. He mentioned weight loss, tiredness and night sweats. He was a smoker and dran...

ea0062p23 | Poster Presentations | EU2019

Pancreatic lesions in von Hippel–Lindau (vHL) disease: A diagnostic and management challenges

Kurera I , Andrabi B , Ismail R , Snape K , Bano G

vHL disease is commonly inherited in an autosomal dominant fashion. Pancreatic lesions in vHL are generally asymptomatic or associated with mild nonspecific symptoms.Case history: A 40 year old Asian female was seen in genetic/endocrine clinic for Predictive vHL mutation. She was married to her first cousin and had a 19 years old daughter. Her sister was diagnosed with vHL in Canada. She presented with Renal cell carcinoma and renal cysts. Her mother die...

ea0062p52 | Poster Presentations | EU2019

A rare case of pituitary extraventricular neurocytoma presenting with visual field defects

Naseem A , Khan I , Kochhar R , Robinson A , Mukherjee A , Kearney T

Case report: Central neurocytomas are well-differentiated rare central nervous system tumours. These tumours when identified in brain parenchyma or spinal cord are termed as extra ventricular neurocytomas. We report a case of 40 year old lady with mild hypertension who presented with long standing history of intermittent headaches which got worse 2 months before presentation, mainly affecting her forehead and left retro-orbital region. She also noted blurring of vision in her ...

ea0063p912 | Diabetes, Obesity and Metabolism 3 | ECE2019

1,25-dihydroxyvitamin D3 (1,25-(OH)2D3) and lipid accumulation in liver cells: A role for epigenetic mechanisms?

Perez Francisca Salas , Martinez J Alfredo , Milagro Fermin I

Context: Vitamin D is a fat-soluble vitamin which requires the hydroxylation into 1,25-dihydroxyvitamin D (1,25-(OH)2D3) to be fully active. Vitamin D deficiency is a worldwide health problem associated to a wide range of acute and chronic diseases. On other hand, vitamin D supplementation has been proposed to reduced the risk of metabolic dysfunctions including obesity, type 2 diabetes and cardiovascular disease. Vitamin D interacts with the epigenetic m...

ea0063p914 | Diabetes, Obesity and Metabolism 3 | ECE2019

miRNAs-target genes, miRNA-lncRNA, and miRNA-small molecules interactions involved in metabolic diseases

Assmann Tais Silveira , Milagro Fermin I , Martinez J Alfredo

Context: Metabolic diseases affect millions of people in both developed and transition countries. In addition to genetic inheritance of risk alleles, emerging evidence has shown that these diseases are also linked to lifestyle and inherited epigenetic pattern interactions. The strong link between epigenetics and metabolism may offer attractive clinical applications to counteract and manage the escalating prevalence of metabolic diseases, such as obesity, type 2 diabetes mellit...