ESPE Abstracts

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...

Background: Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. In approximately 10% of cases, POI presents early with absent puberty or primary amenorrhoea. A genetic cause for POI can be found in up to 30% of women. Identified genes often relate to the complex biological processes occurring in fetal life which underpin normal ovary development and function in later adulthood.Objective: We aim...

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...

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...

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...

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...

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...

Background: A mutation in EIF2S3 (NM_001415; Xp22.11) was previously associated with microcephaly and developmental delay in a single pedigree. EIF2S3 encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 initiates protein synthesis by forming a ternary complex with GTP and initiator methionyl-tRNA which then binds to the 40S ribosomal subunit, enabling scanning of mRNA from the 5′ end to...

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...

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...