Searchable abstracts of presentations at key conferences in endocrinology

ea0103oc9.5 | Diabetes Oral Communications 2 | BSPED2024

Socioeconomic status influencing the cessation of insulin pump therapy in children with type 1 diabetes: a cohort study

Mulhern Eilidh , Lamb Fiona , Whyte Karen , Kuehne Vaiva , Craigie Ian , Shaikh Guftar

Objectives: To identify contributing factors for insulin pump cessation in paediatric patients with Type 1 Diabetes Mellitus, together with investigating the role of socio-economic status.Design: A retrospective population-based paediatric cohort study.Setting: Royal Hospital for Children, Glasgow. Diabetes Cohort Study.Patients: 72 patients (out of 323) stopped insulin pump therapy. 1 patient was excluded wh...

ea0103p84 | Diabetes 4 | BSPED2024

Aniridia and glucose intolerance associated with PAX6 mutation; MODY, T1D or both?

Blackstock Sarah , Ghosh Sudeshna , Bound Christopher , Misra Shivani , Wassouf Samir , Logan Karen

Introduction: Heterozygous mutations of PAX6 gene are known to cause congenital eye abnormalities including aniridia. The gene is also required for islet cell development and mutations are associated with glucose intolerance. We report the case of a boy with known PAX6 mutation and aniridia who developed hyperglycaemia.Case: A 15 year old boy presented to the emergency department with hyperglycaemia after reporting intermittent testicular discomfort to h...

ea0103p98 | Diabetes 5 | BSPED2024

Type 2 diabetes mellitus in children and young people: a single uk paediatric diabetes centre experience

Ali Salma , Joy Elina , Allison Gavin , Kuehne Vaiva , Rashid Rajeeb , Shaikh Guftar , Whyte Karen

Background: Type 2 diabetes mellitus (T2DM) is increasingly prevalent in children and young people due to increasing rates of obesity. The benefits of a dedicated T2DM clinic include MDT input and standardisation of patient care. The aim of this study was to evaluate current practice for management of T2DM upon initiation of the first dedicated T2DM paediatric clinic in Scotland.Methods: Retrospective review of clinical information via electronic patient...

ea0081p231 | Thyroid | ECE2022

Congestive heart failure as a first-time presentation of thyrotoxicosis in COVID-19 positive patient

McKay Ellen , Elhilo Mousa Kalthoom , Abrar Ul Haq Muhammad , Kelly Karen , Shafi Rummun Mohamad , Fleming Sean , Pyeh Kyithar Ma

Background: The clinical manifestations of thyrotoxicosis do not always correlate with the extent of thyroid biochemical abnormalities. Here, we report the case of a COVID-19 positive patient who presented with congestive heart failure as a first-time presentation of thyrotoxicosis. Case report: A 40-year-old female presented to Emergency Department with two days history of lower limb oedema and abdominal distension. She denied dyspnoea, chest pain, palp...

ea0090rc8.4 | Rapid Communications 8: Calcium and Bone | ECE2023

Encaleret (CLTX-305) normalized mineral homeostasis parameters in patients with autosomal dominant hypocalcemia type 1: Results over 12 months in a phase 2 study (NCT04581629)

Collins Michael , Hartley Iris , Roszko Kelly , Nemeth Edward , Pozo Karen , Boykin Winsome , Mathew Arun , Roberts Mary Scott , Adler Scott

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function calcium-sensing receptor gene (CASR) variants, is characterized by low parathyroid hormone (PTH) levels, hypocalcemia, hypercalciuria, hyperphosphatemia and hypomagnesemia. Conventional therapy (calcium and active vitamin D) worsens hypercalciuria, which may result in renal complications. Calcilytics, such as encaleret, are negative allosteric modulators of the calcium-sensing receptor (CaSR). T...

ea0090p182 | Reproductive and Developmental Endocrinology | ECE2023

Sublingual estradiol only, offers no apparent advantage over combined oral estradiol and cyproterone acetate, for Gender Affirming Hormone Therapy (GAHT) of treatment-naïve transwomen: Results of a prospective pilot study

Gindis Guy , Yaish Iris , Greenman Yona , Moshe Yaffa , Arbiv Mira , Buch Asaf , Sofer Yael , Shefer Gabi , Tordjman Karen

Background: The standard approach for Gender-Affirming Hormone Therapy (GAHT) of transgender women (TW) in Israel is oral estradiol (OE) combined with the potent anti-androgen cyproterone acetate (CA). Recently, many of our non-binary patients have requested sublingual estradiol (SLE) without CA, under the unproven belief it preserves erectile function, and does not induce depression. Preliminary data in a few subjects, who self-practiced this approach, suggested it also maint...

ea0090ep1070 | Thyroid | ECE2023

A Case of Myxoedema Coma Presenting as Suspected Angioedema with Confusion

Jatinder Hayre , Etbinah Lubna , Mohamed Ayan , Mahamud Bashir , Tam Karen , Mohammed Ahmed , Nikookam Khash , Mohammed Mohammed , Mlawa Gideon

Background: Myxoedema coma although uncommon can be life-threatening in patients who are poorly compliant with levothyroxine replacement. Some of the precipitating factors include intercurrent respiratory infection, use of sedatives, and electrolyte imbalance such as hyponatremia(Wiersinga 2018). A 73-year-old man presented to the Hospital with face and tongue swelling, shortness of breath, and type 2 respiratory failure. His past medical history includes hypothyroidism, Obstr...

ea0063p303 | Reproductive Endocrinology 1 | ECE2019

Evidence for preserved ovarian reserve in transgender men receiving testosterone therapy: Anti-mullerian hormone serum levels decrease modestly after one year of treatment

Yaish Iris , Malinger Gad , Azem Foad , Sofer Yael , Golani Nechama , Tordjman Karen , Amir Hadar , Stern Naftali , Greenman Yona

Background: Although successful pregnancies carried by transgender men have been reported, long-term effects of testosterone therapy on fertility remain unknown.Aims: To study markers of ovarian reserve during testosterone therapy.Methods: Prospective open-label study of transgender men prior and during treatment with testosterone. Sampling was conducted at baseline and 12 months after treatment initiation.Ma...

ea0049ep199 | Neuroendocrinology | ECE2017

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs): clinico-pathological characteristics and disease outcome of 110 patients treated at single referral medical center

Koren Shlomit , Or Karen , Steinschneider Miri , Kummer Esther , Yarom Nirit , Shirin Haim , Lavy Ron , Gratiana Gratiana , Benbassat Carlos

Introduction: GEP-NETs incidence increased markedly over the past decades probably due to increased imaging. GEP-NETs are generally indolent but often have unpredictable biological behavior and aggressive clinical course.Aims: To collect information regarding demographics, presentation, pathology characteristics, treatment and outcome of GEP-NETs.Methods: Following approval of our institutional ethical board, pathology and clinical...

ea0049ep904 | Neuroendocrinology | ECE2017

Study of CHD7 gene in KAL 1-negative patients previously diagnosed with congenital hypogonadotropic hypogonadism that develop new pituitary deficiencies

Lecumberri Beatriz , Rodriguez Francisco Javier , Moreno Oscar , Santiago Manuel de , Nistal Manuel , Vallespin Elena , Campos Angel , Heath Karen

Introduction: Recent studies suggest that some patients initially diagnosed with congenital hypogonadotropic hypogonadism (CHH), may evolve towards a combined pituitary hormonal deficiency (CPHD). Heterozygous pathogenic CHD7 variants impair neural cell crest guidance causing CHARGE syndrome and have been associated with abnormal pituitary development/function/structure and isolated CHARGE features, including HH. We aimed to genotype CHD7 and phenotype thoroughly those adult p...