Searchable abstracts of presentations at key conferences in endocrinology

ea0066cme2.1 | Session 2 | BSPED2019

Recognition and assessment of pituitary tumours: what the clinician needs to know

Albanese Assunta

Craniopharyngiomas and pituitary adenomas are the most common benign tumours occupying the pituitary fossa. Neoplastic or infiltrative processes of the pituitary area, such as gliomas arising from the optic chiasm and surrounding region, germ cell tumors from the pituitary stalk, and granulomatous diseases, are less common. Pituitary adenomas are classified according to size, functional status, primary cell origin, and hormone secretion (Prolactin, GH, ACTH, TSH and gonadotrop...

ea0039ep9 | Adrenal | BSPED2015

Slow progressing puberty and a secreting adrenocortical tumour in a teenager.

Edate Sujata , Albanese Assunta

Introduction: SACT are rare in childhood and present with variable signs depending on the type of hormone excess. We describe the unusual presentation of a teenager with SAT presenting with slow progressing puberty.Methods: A pre-menarchal 13.5 years old girl with high BMI (28 kg/m2) presented with slow progressing puberty. She started her puberty at least 3 years previously with breast changes, then progressed to develop pubic and axillary ha...

ea0012p135 | Thyroid | SFE2006

Tri-iodothyronine, how does it get in? What if it goes wrong?

Dugal T , McEntagart M , Albanese A

Thyroid hormone is absolutely necessary for early brain development. Incidence of thyroid disorders in infancy is 1:4,000. Thyroid hormones can be deficient through hormone synthesis and action or very rarely through defective transport. Some new and exciting transporters for tri-iodothyronine (T3) have recently come to light. MCT 8 gene encodes the protein that transports T3 into neurons. Its mutation result in inability of T3 to enter a devel...

ea0036P86 | (1) | BSPED2014

Management of congenital hypothyroidism: audit of our experience over a decade vs the new national standards

Ramaswamy Priya , Bain Murray , Albanese Assunta

Background: About one in 3000 babies born in the UK have congenital hypothyroidism (CHT), which is usually due to an agenesis of the thyroid gland, but some are due to dyshormogenesis, which can be transient or permanent.Method: Retrospective analysis of medical notes of infants referred as ‘suspect’ congenital hypothyroidism from the newborn blood spot screening centre to the paediatric endocrinology service at our hospital from January 2002 t...

ea0014p186 | (1) | ECE2007

X-linked neuronal T3 transport defect: Allan Herndon Dudley syndrome

Dugal Tabinda , Albanese Assunta , Mc Entagart Muriel

Thyroid hormone is absolutely necessary for early brain development.Incidence of thyroid disorders in infancy is 1:4,000.Thyroid hormones can be deficient through hormone synthesis and action or very rarely through defective transport. Some new and exciting transporters for tri-iodothyronine (T3) have recently come to light.MCT 8 gene encodes the protein that transports T3 into neurons. Its mutation result in inability of T3 to enter a developi...

ea0081p566 | Calcium and Bone | ECE2022

High prevalence of thoracic vertebral fractures in patients with medullary thyroid cancer

Di Filippo Luigi , Albanese Lucrezia , Castellino Laura , Doga Mauro , Formenti Anna Maria , Frara Stefano , Perticone Francesca , Giustina Andrea

Medullary thyroid cancer (MTC) is a rare malignancy of the thyroid gland. MTCs originate from thyroid-C cells and account for 2-4% of all thyroid neoplasms. Originating from thyroid-C cells, the main secretory product of MTCs is calcitonin, used as sensitive and specific MTC-biomarker. Calcitonin is a hormone known to participate in calcium-bone metabolism suppressing bone-resorption by inhibiting the activity of osteoclasts, and inhibiting the kidney reabsorption of calcium a...

ea0016p458 | Neuroendocrinology | ECE2008

Effect of GH replacement on coronary flow reserve (CFR) and on some cardiovascular risk factors in adult GHD patients

Boschetti Mara , Agosti Sergio , Albanese Valeria , Casalino Laura , Vera Lara , Goglia Umberto , Paolo Bezante Gian , Ferone Diego , Minuto Francesco

GH deficiency (GHD) negatively influences cardiovascular function directly by impairing cardiac filling, performance, and contractility and indirectly by inducing atherosclerotic changes, hypercoagulability, abdominal obesity, insulin resistance, dislipidemia, endothelial dysfunction, etc. This accounts for the reduced life expectancy and increased risk of death for vascular disease in these patients.CFR represents the capacity of the coronary circulatio...

ea0013oc16 | Young Endocrinologist prize session | SFEBES2007

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) cause 46,XY disorders of sex development with normal adrenal function

Lin Lin , Philibert Pascal , Ferraz-de-Souza Bruno , Kelberman Daniel , Homfray Tessa , Albanese Assunta , Molini Veruska , Sebire Neil , Einaudi Silvia , Jameson Larry , Sultan Charles , Dattani Mehul , Achermann John

The nuclear receptor steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a key regulator of adrenal and gonadal development, steroidogenesis and reproduction, and targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal and persistent Müllerian structures in males. Consistent with this phenotype, DNA-binding mutations in SF1 have been reported in two 46,XY female patients with primary adrenal failure and uterine s...

ea0027p28 | (1) | BSPED2011

Prophylactic thyroidectomy in children with MEN2 in the United Kingdom

Prete Francesco Paolo , Morkane Clare , Watkinson J , Shaw N , Alvi S , Squire R , Harrison B , Wales J , Clayton P , Morrison P , Carson D , Brain C , Hindmarsh P , Dattani M , Spoudeas H , Buchanan C , Albanese A , Amin R , Piero A , Kurzawinski T

Introduction: Timing, extent, complications rate and long term results of paediatric prophylactic thyroidectomy (pPT) for MEN2 in the UK are unknown.Methods: All UK centers performing pPT were invited to participate in the study.Data were obtained from notes and hospitals electronic databases.Results: Fifty-one children (27 males) were included.All had genetic test at the mean age of 5 years (median 3, range 0.25–15), confirmi...

ea0094p125 | RET | SFEBES2023

National Experience of the use of the highly selective RET tyrosine kinase inhibitor Selpercatinib in children with multiple endocrine neoplasia type 2 and advanced medullary thyroid cancer: updated experience

Stoneham Sara , A Corley Elizabeth , Ross Emma , Gevers Evelien , Newbold Kate , Beale Tim , Wong Kee , Brain Caroline , Albanese Assunte , Butler Colin , Abdel-Aziz Tarek , Proctor Ian , R Kurzawinsky Tom , V Marshall Lynley

Background and Demographics: Medullary thyroid carcinoma (MTC), in the context of Multiple Endocrine Neoplasia type 2 (MEN2), is caused by mutations in the RET proto-oncogene. For children with MEN2, both 2A and 2B subtypes, and advanced MTC, the RET tyrosine kinase (TK) pathway is a target for treatment with selpercatinib, a selective RET TK inhibitor (TKI). In the United Kingdom, 7 paediatric patients have been receiving named -patient, compassionate access ...