Searchable abstracts of presentations at key conferences in endocrinology

ea0032p817 | Paediatric endocrinology | ECE2013

Williams syndrome: report of a case

Coles Diana , Teleanu Raluca , Sandu Magdalena , Matei Margarita

Introduction: Williams–Beuren syndrome is a rare genetic condition with clinical manifestations that include a distinct facial appearance, cardiovascular anomalies that may be present at birth or may develop later in life, idiopathic hypercalcemia, and a characteristic neurodevelopmental and behavioral profile.Case report: We present a particular case of a 3.5 years old boy, born SGA at 39 weeks of gestation with neonatal hypoxia, diagnosed at 1.6 y...

ea0078oc1.1 | Oral Communications 1 | BSPED2021

Severe hypercalcaemia in Williams-Beuren syndrome.

Bell Karen , Abid Noina

Background: Hypercalcaemia is a well-recognised feature amongst children with Williams-Beuren syndrome with a reported incidence between 0-43%1. In most cases this is mild however in some, reportedly 6.1% (Sindhar et al.1) it is severe enough for it to be actionable and cause nephrocalcinosis. We present 2 cases of severe hypercalcaemia requiring treatment with bisphosphonates. Case 1: A 16 month old male admitted following...

ea0073ep223 | Thyroid | ECE2021

Prominent multinodular goiter in a patient with Williams-Beuren Syndrome

Maria del Pino Perez-Garcia , Esther Hernandez-Felipe , Paula Gonzalez-Diaz , Alba Lucia Tocino-Hernandez , Esperanza Perdomo-Herrera , Kuzior Agnieszka , Paula Maria Fernandez-Trujillo-Comenge , Alba Hernandez-Lazaro , Ricardo de Leon-Durango , Francisco Javier Martinez-Martin

ObjectivePresentation of multinodular goiter as an unusual feature in a patient with Williams-Beuren Syndrome.MethodsReview of the patient’s clinical records and of the relevant literature.IntroductionThe Williams-Beuren Syndrome is a multisystem disorder caused by a microdeletion of 1.5–1.8 megabase pairs on chromosome 7q11-123, with loss of 26–28 ...

ea0051p029 | Miscellaneous/other | BSPED2017

Bisphosphonate therapy in Williams-Beuren syndrome: case series

Maduemem Kene , Kennedy Elaine , Morrissey Rose , Riordan Michael , O'Riordan Stephen M P

Introduction: Hypercalcaemia in Williams-Beuren syndrome (WBS) is usually mild and transient, but may be severe in about 5% of new presentations. Often some children will not respond well to traditional therapies.Case report: We describe three cases of acute hypercalcaemia and their management in a regional Paediatric unit. Case 1: A 16-month-old known WBS girl, presented with irritability, reduced feeding. Corrected serum calcium was 4.51 mmol/l. She wa...

ea0090ep923 | Reproductive and Developmental Endocrinology | ECE2023

Response to Growth Hormone Therapy in A Patient with Williams-Beuren Syndrome

Ragbi Sara , Essabah Haraj Nassim , El Aziz Siham , Chadli Asma

Introduction: Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder with distinctive facial appearance, cardiovascular anomalies, impaired somatic growth and infantile hypercalcemia. Growth retardation is a common clinical feature in patients with Williams-Beuren syndrome. We report a boy with Williams-Beuren syndrome, who was found to have growth hormone deficiency and is responding well to growth hormone therapyObservation : The patient ...

ea0025pl6biog | Society for Endocrinology Medal Lecture | SFEBES2011

Society for Endocrinology Medal Lecture

Williams G R

G R Williams, Imperial College London, London, UK. AbstractGraham R Williams obtained a BSc in Anatomy and MBBS from St Thomas’s Hospital, London and undertook PhD studies in Molecular Endocrinology at Birmingham University. He trained as a Howard Hughes and MRC Fellow at Harvard Medical School, USA and was an MRC Clinician Scientist Fellow in Birmingham. He was appointed Senior Lecturer at the Royal Postgraduate...

ea0077lb8 | Late Breaking | SFEBES2021

An atypical case of hypercalcaemia extending into adulthood in a patient with Williams-Beuren Syndrome

Culling Annabelle , Richardson Tristan

A 33 year old man with Williams-Beuren Syndrome (WBS) was admitted following the finding of symptomatic hypercalcaemia (calcium 3.12 mmol/l (2.2-2.6)). Infantile hypercalcaemia is characteristic of WBS, however almost always, calcium levels return to the normal range by ~12 months of age. The patient also had an acute kidney injury (eGFR 39ml/min/1.732, creatinine 178 mmol/l (59-104)), secondary to hypercalcaemia. The patient complained of polydipsia. Past medical h...

ea0033p32 | (1) | BSPED2013

Diabetes mellitus related to Williams syndrome: first report of childhood onset

Lucaccioni Laura , Shaikh Guftar M , Craigie Ian , Giacomozzi Claudio

Introduction: Williams syndrome (WS) is a multi-systemic disorder caused by a deletion in the region 7q11.23. Childhood endocrine follow-up is mainly aimed to monitor hypercalcemia and thyroid function. A high prevalence (63–71%) of impaired glucose tolerance (IGT) and diabetes mellitus (DM) in young adults with WS is reported. WS guidelines recommend Oral Glucose Tolerance Test (OGTT) starting from 30 years of age. We demonstrate evidence of IGT and DM in WS at a much ea...

ea0026p723 | Diabetes (epidemiology, pathophysiology) | ECE2011

High prevalence of impaired glucose metabolism in young adult patients with Williams syndrome

Masserini B , Bedeschi M F , Bianchi V , Lunati M E , Lalatta F , Beck-Peccoz P , Orsi E

Introduction: Williams syndrome (WS) is a rare, multisystemic genomic disorder. While the natural history of the disease in childhood is quite well-known, few descriptions of the adult WS medical complications have been published.Method: Twenty-two young adult patients with WS (13 females, 9 males, age: 29.2±5.4 years) were studied. A 75 g oral glucose tolerance test (OGTT) was performed in all but one with known diabetes mellitus (DM). β-Cell ...

ea0005p37 | Clinical Case Reports | BES2003

A case of ectopic ACTH with severe opportunistic infection

Hatfield E , Pal S , Meeran K , Williams G , Todd J

A case of ectopic ACTH with severe opportunistic infectionECI Hatfield, S Pal, K Meeran, G Williams, JF Todd.Endocrine Unit, Imperial College, Hammersmith Hospital, London, UKA twenty six year old female presented with symptoms and signs suggestive of Cushing's Syndrome. Initial investigations showed hypokalaemia (potassium 2.3nmol/L), elevated urinary free cortisols, (3400, 18,000, 31,000 nmol/24 hour (NR <270)), diabetes (fasting glucose =9 mmol/L), loss of di...