Searchable abstracts of presentations at key conferences in endocrinology

ea0027s20 | Symposium 2–Pubertal Disorders | BSPED2011

Clinical management of late puberty

Dunkel Leo

Constitutional delay of growth and puberty (CDGP) is the most common diagnosis among males and females with pubertal delay, but it can be diagnosed only after exclusion of other underlying conditions. Most of the boys with delayed puberty have CDGP, but about 5–10% have hypergonadotropic hypogonadism (including Klinefelter), 10% have permanent hypogonadotropic hypogonadism (including Kallmann syndrome and idiopathic hypogonadotropic hypogonadism), and 10% have a transient...

ea0081ep780 | Pituitary and Neuroendocrinology | ECE2022

Null cell adenoma with low Ki-67 presenting as recurrent pituitary mass

Tiu Leo , Montano Carolyn

Background: Approximately one-third of pituitary adenomas are identified as nonfunctioning pituitary adenomas (NFPA) which have a heterogenous profile and an increased potential for relapse one to five years after pituitary surgery. In a retrospective analysis by Almeida et al, multiple surgical resections, elevated ki-67 and cavernous sinus invasion were predictive of recurrence. They typically present with symptoms of mass effect and most are macroadenomas at time of diagnos...

ea0081ep172 | Calcium and Bone | ECE2022

Acute hypercalcemic crisis in an elderly with granulomatous disease

Tiu Jr Leo , Capellan Maria Leonora

Background: Tuberculosis rarely leads to clinically significant hypercalcemia. However, elderly patients remain predisposed due to advanced age, multiple comorbidities and polypharmacy.Clinical Case: An 81-year-old female presented with 1 month history of bilateral weak hand grip and sluggish mastication. She was initially managed as progressive Parkinson’s Disease. After 3 weeks, she was now reported to have episodes of fall from imbalance. After f...

ea0038fp5 | (1) | SFEBES2015

Generation of GnRH neurons from human embryonic stem cells and induced pluripotent stem cells of healthy individuals and patients with Kallmann’s syndrome

Poliandri Ariel , Miller Duncan , Dunkel Leo

GnRH neurons are vital for reproductive competence. These neurons originate mainly in the nasal epithelium and migrate to the preoptic region of the hypothalamus during foetal development. Defective migration may result in Hypogonadotropic Hypogonadism (HH), a condition in which puberty is never or only partially achieved.Little is known about the molecular ontogeny and regulation of GnRH neurons. Their anatomical localisation and small numbers (about 10...

ea0033p29 | (1) | BSPED2013

Prevalence and screening of thyroid and coeliac disease in type 1 diabetes mellitus

Arkush Leo , Williams Emma , Hakeem Vaseem

Introduction: Children with type 1 diabetes mellitus are at increased risk of autoimmune thyroid and coeliac disease. Reported prevalence figures for thyroid and coeliac disease in this population has been reported in European studies as 3–8%1 and 1–10%2 respectively. Current NICE guidelines (June 2009) recommend screening for both conditions at diagnosis, and then screening annually for thyroid disease thereafter. We aimed to: i) estimate preva...

ea0028p45 | Clinical practice/governance and case reports | SFEBES2012

A protocol for avoidance of post-thryoidectomy hypocalcaemia, results of first 12 months’ audit

Alexandre Leo , Pain Simon , Turner Jeremy

Background: Total and completion thyroidectomy are commonly performed operations for the treatment of thyroid disease. Post-operative hypocalcaemia is a frequent complication of this surgery, and is associated with morbidity and prolonged length of stay (LOS).Methods: In January 2010 we introduced a protocol for the avoidance and management of post-operative of hypocalcaemia based on risk-stratification by post-operative PTH levels in patients undergoing...

ea0013s1 | Society for Endocrinology Dale Medal Lecture | SFEBES2007

The ever expanding role of somatostatin receptors in endocrine disease

Lamberts Steven WJ , Hofland Leo J

Studies on the distribution of Somatostatin Receptor (sst)-subtypes on endocrine tumors, the development of sst-subtype specific analogues, the elucidation of phenomena like receptor desensitization and ligand-receptor internalization, and the potential consequences (and reversal) of the epigenetic silencing of sst offer new diagnostic and therapeutic modalities in endocrine diseases:1. apart from sst2 activation, Somatostatin analogues target...

ea0051oc4.1 | Oral Communications 4 | BSPED2017

Patients with self-limited delayed puberty harbour mutations in multiple genes controlling GnRH neuronal development

Howard Sasha , Andre Valentina , Guasti Leo , Cabrera Claudia , Barnes Michael , Cariboni Anna , Dunkel Leo

Objectives: Abnormal pubertal timing affects >4% of adolescents and is associated with adverse health outcomes. Up to 80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but in the majority the neuroendocrine pathophysiology and genetic regulation remain unclear. Mis-regulation of the embryonic migration of GnRH neurons has been implicated in the pathogenesis of DP (Howar...

ea0078oc4.1 | Oral Communications 4 | BSPED2021

Dominant mutations in CCDC141 are found by ehole rxome dequencing to be a common cause of self-limited delayed puberty

Howard Sasha , Saengkaew Tansit , Dunkel Leo , Guasti Leonardo

Puberty is a fascinating transition period in the mammalian lifespan, but the biological control of pubertal timing remains poorly understood. Developmental abnormalities of the gonadotropin-releasing hormone (GnRH) neuronal network have been shown to be responsible for disorders of pubertal timing, in a spectrum of conditions ranging from idiopathic hypogonadotropic hypogonadism (IHH) to self-limited delayed puberty. We hypothesized that important regulators of pubertal timin...

ea0065p139 | Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer | SFEBES2019

Clinical spectrum of endocrine toxicities of Immune checkpoint therapy: single centre experience

Joshi Mamta , Duffy Leo , Velusamy Anand , Papa Sophie , Carroll Paul

Introduction: Checkpoint inhibitor (CPI) related endocrine toxicities are increasingly commonly with the use of these new cancer agents. With one of the largest cancer departments in UK, we studied the clinical management and outcome of patients who developed different endocrine toxicities over the last five years, with the use of CTLA-4, PD-1 and PDL-1 agents.Methods: All patients treated with CPI between 1 Jan 2014 to 31 Jan 2019 were included for the ...