hrp0092fc1.5 | Diabetes and Insulin Session 1 | ESPE2019

FADES: A Birth Cohort to Understand the Mechanisms Underlying Accelerated Onset of Autoimmunity in Children with Down's Syndrome

Williams Georgina , Mortimer Georgina L. , Leary Sam D. , Williams Alistair J.K. , Gillespie Kathleen M. , Hamilton - Shield Julian P.

Background and Aims: Children with Down's syndrome (DS) are at increased risk of autoimmune conditions including type 1 diabetes (T1D), coeliac and thyroid disease. We previously examined the clinical and immunogenetic characteristics of these conditions in children with DS. An earlier age-of-onset of diabetes was observed compared with children with T1D from the general population despite having decreased frequencies of the established genetic susceptibil...

hrp0086p2-p720 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Familial Williams Syndrome

Isguven Sukriye Pinar , Aydin Dilek Bingol , Karkucak Mutlu

Background: Williams Syndrome (WS) is a multisystemic genetic syndrome, which includes characteristic appearance of “elfian face”, growth retardation, mild mental retardation, hypersociality, infantile hypercalcemia, and other endocrine, cardiovascular, and urinary abnormalities. WS is caused by the microdeletion of chromosome 7q11.23; it is usually sporadic but rare autosomal dominant familial cases have been reported in the literature. We present a boy and his moth...

hrp0084p3-673 | Bone | ESPE2015

Successful Treatment of Severe Hypercalcemia in an Infant with Williams Syndrome Using a Single Infusion of Pamidronate Followed by Low Calcium Diet

Odeh Rasha , Albaramki Jumana , Alassaf Abeer

Background: 15% of patients with Williams syndrome develop hypercalcemia that is described as mild and transient. There are, however, reported cases with severe hypercalcemia that did not respond to traditional therapy. Pamidronate was used in the treatment of this condition, and was successful in the few reported cases in the literature.Case presentation: We report a 9 month old female who presented with failure to thrive, polyuria and polydipsia. She h...

hrp0086p2-p146 | Bone & Mineral Metabolism P2 | ESPE2016

Bone Mineral Status and Metabolism in Patients with Williams-Beuren Syndrome

Stagi Stefano , Scalini Perla , Chiarelli Francesco , Verrotti Alberto , Giglio Sabrina , Ricci Franco , Lapi Elisabetta , Romano Silvia , Martino Maurizio de

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...

hrp0084p3-1172 | Thyroid | ESPE2015

Central Hypothyroidism and GH Deficiency in a Boy with Williams–Beuren Syndrome

Ciccone Sara , Fumarola Adriana , Bigoni Stefania , Bonifacci Valentina , Marrella Elisa Maria Gabriella , Buldrini Barbara , Host Cristina

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...

hrp0082p3-d2-860 | Growth (3) | ESPE2014

Clinical Expression of Familial Williams–Beuren Syndrome in a Turkish Family

Parlak Mesut , Nur Banu Guzel , Mihci Ercan , Durmaz Erdem , Karauzum Sibel Berker , Akcurin Sema , Bircan Iffet

Background: WBS is a rare genetic disorder characterized by distinctive facial features, intellectual disability, cardiovascular anomalies, and infantile hypercalcemia.Objective and hypotheses: Majority of WBS cases occur sporadically, only five families with clinically confirmed WBS have been identified by molecular cytogenetic analysis. Here, we report on the three molecular cytogenetically confirmed familial WBS detected in a family with familial shor...

hrp0094p2-310 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Incidental pituitary adenoma detection in two patients affected by Williams Syndrome: only a coincidence?

Ciancia Silvia , Madeo Simona F. , Cattini Umberto , Bruzzi Patrizia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo ,

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal...

hrp0084p3-1222 | Thyroid | ESPE2015

Seven Cases with Williams Beuren Syndrome: Endocrine Evaluation and Long-Term Follow-Up

Guven Ayla

Objectives: Hypercalcaemia, hypothyroidism, and early puberty are the most common endocrine disorders defined in Williams-Beuren syndrome (WBS). Here, endocrine evaluation and long-term follow-up of seven patients with WBS are given.Methods: Data were obtained from patient’s medical records. WBS was diagnosed by demonstration of the deletion on chromosome 7 by using FISH method (7q11.23). OGTT were performed in four patients. Thyroid ultrasonography...

hrp0089p3-p193 | GH & IGFs P3 | ESPE2018

Growth Hormone Deficiency Intwo Children with Williams-Beuren Syndrome: The Long-Term Response to Growth Hormone (GH) Therapy

Soliman Ashraf , Adel Ashraf , Alyafiei fawzia

Background: Pre- and postnatal growth retardation of unknown pathogenesis is a common clinical feature in patients with Williams-Beuren syndrome (WBS). However, growth hormone deficiency (GHD) has not been considered a major cause of growth retardation.Case reports: We report two female patients with confirmed WBS who had defective GH secretion in response to two provocative tests and low IGF-I level and their growth response to GH therapy for 9 years. T...

hrp0089p2-p058 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Validation of an Automated Method (BoneXpert) for the Determination of Bone Age in Paediatric Endocrinology – A Single Centre Experience

Calder Alistair , Dastamani Antonia , Spoudeas Helen , Dattani Mehul

Background: The BoneXpert method is an automated determination of bone age, which employs deformable models of each bone to locate the bones, and extracts the component of the bone appearance related to maturity in a holistic, statistical manner. The BoneXpert has been validated on normal children and children with diagnoses typical of pediatric endocrinology. Multiple clinical studies suggested that BoneXpert has adequate accuracy, precision, and efficiency to be clinically u...