hrp0082fc13.3 | Thyroid | ESPE2014

Overexpression of Supressor Tumoral PTEN, but not DREAM, was Detected in Multinodular Goiter in Humans

Shinzato Amanda , Lerario Antonio M , Danilovic Debora S , Marui Suemi , Lin Chin J , Trarbach Ericka B

Background: A high proliferative status of thyroid follicular cells and goiter were observed in mutants mice with Ptenāˆ’/āˆ’ or Dream overexpression. In humans, patients with Cowden disease have goiters or other thyroid abnormalities associated with germ-line PTEN mutations.Objective and Hypotheses: The aim of this study was to investigate the tissue expression of PTEN and DREAM, as well as germ-line ...

hrp0082p1-d2-41 | Bone | ESPE2014

Young Adults with Klinefelter Syndrome and Congenital Anorchia Treated with Testosterone Have Normal Bone and Muscle Mass but Increased Central Adiposity

Wong S C , Scott D , Tandon S , Ebeling P , Zacharin M

Background: Decreased bone density using DXA is reported in mixed cohorts of testosterone treated and testosterone naïve men with Klinefelter syndrome (KS). Bone mass and body composition in men with congenital anorchia (CA) have never been previously reported.Objective and hypotheses: Men with KS and CA treated with testosterone from adolescence have normal bone mass and body composition.Method: Whole-body DXA and tibial (66%...

hrp0082p1-d3-49 | Bone (1) | ESPE2014

Vertebral Fracture Assessment in a Paediatric Population using Dual-Energy X-ray Absorptiometry

Kyriakou Andreas , Shepherd Sheila , Shaikh Guftar M , Ahmed Syed Faisal , Mason Avril

Background: Vertebral fractures (VF) are recognised as an important aspect of bone health in children and adolescents, yet most of them are not clinically apparent. The clinical utility of vertebral fracture assessment (VFA) using dual-energy X-ray absorptiometry (DXA) for vertebral morphometry has not been evaluated in the paediatric population.Method: VFA was performed independently by two non-radiologist observers in 110 patients (52M/58F) as part of ...

hrp0082p1-d1-236 | Thyroid | ESPE2014

Genome-Wide Promoter Methylation Analysis in Cytologically Indeterminate Thyroid Nodules

Trarbach Ericka B , Shinzato Amanda , Lin Chin J , Marui Suemi , Lerario Antonio M

Background: Differentiating potentially malignant thyroid nodules among those undetermined by cytology avoid unnecessary surgical procedures. Aberrant DNA methylation is ubiquitous in human cancers, including thyroid tumors. Biomarkers based on methylation profiles have been successfully used to diagnose early stage malignancy in many human cancers.Objective and hypotheses: To determine the genome-wide promoter methylation status of cytologically indeter...

hrp0082p2-d2-306 | Bone (1) | ESPE2014

Effects of Recombinant Human GH on Bone Mass and Body Composition in Paediatric Inflammatory Bowel Disease

Altowati M A , Shepherd S , McGrogan P , Russell R K , Ahmed S F , Wong S C

Background: rhGH therapy may improve linear growth in children with inflammatory bowel disease (IBD). Poor bone health and abnormal body composition are recognised complications in paediatric IBD.Objective and hypotheses: To investigate the effects of rhGH on bone health and body composition.Method: Sub-analysis of 13 children with IBD (12CD; 1UC) in a randomized controlled trial. Either rhGH (0.067 mg/kg per day) as daily s.c. inj...

hrp0082p2-d3-307 | Bone (2) | ESPE2014

Suppression of Bone Turnover and its Determinants in Children Receiving Bisphosphonate Therapy

Kyriakou Andreas , McNeilly Jane D , McMillan Martin , Shaikh Guftar M , Mason Avril , Ahmed Syed Faisal

Background: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Method: Markers of bone metabolism were evaluated in 15 children (9M/6F) undergoing BPT for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX), alkaline phosphatase (AL...

hrp0082p2-d1-418 | Growth Hormone | ESPE2014

Response to GH Treatment in Patients with Silver Russell Syndrome

Smeets C C J , Renes J S , van der Steen M , Hokken-Koelega A C S

Background: Silver Russell syndrome (SRS) is characterized by low birth weight, severe postnatal short stature and distinctive facies. In ~50% of patients, (epi)genetic alterations can be detected (~40% hypomethylation of H19 on chromosome 11, ~10% maternal uniparental disomy (UPD) 7). As SRS patients are usually born small for gestational age (SGA), they are treated with GH to improve height. However, data on long-term effects of GH treatment in SRS patients are very limited....

hrp0082p2-d1-453 | Growth | ESPE2014

New Reference for Height in Swedish Boys and Girls

Albertsson-Wikland Kerstin , Niklasson Aimon , Gelander Lars , Holmgren Anton , Nierop Andreas F M

Background: The actual Swedish growth references are based on a cohort born 1974.Objective and hypotheses: Due to secular changes there is need for new height references.Method: Material: Height measurements from birth to adult height (AH) in a cohort of healthy, Nordic and born full term 1990, 20.796 from 1647 boys, 19.202 from 1501 girls were used (ALL) and compared to both a subgroup with puberty close to mean (PHV &#17...

hrp0082p2-d1-514 | Pituitary | ESPE2014

Urinary Gonadotrophins for Assessment and Management of Pubertal Disorders

Lucaccioni Laura , McNeilly Jane , Mason Avril , Giacomozzi Claudio , Shaikh M Guftar , Iughetti Lorenzo , Ahmed S Faisal

Background: With improvements in assays and an increasing need for non-invasive out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (uGn) for assessing pubertal progress.Objective and hypotheses: This study aims to establish the correlation between serum and urinary LH and FSH in patients with pubertal concerns.Method: 36 boys and girls aged 14.9 years (range 7.8Ā–17.3) and 9.5 yea...

hrp0082p2-d2-544 | Puberty and Neuroendocrinology (1) | ESPE2014

Impact of Being Born Small or Large for Gestational Age on Pubertal Onset and Progression

Loredana Marcovecchio M , Di Giovanni Ilaria , de Giorgis Tommaso , Polidori Nella , Chiavaroli Valentina , Mohn Angelika

Background: Perinatal factors seem to influence the onset of puberty. There is some evidence suggesting that being born small for gestational age (SGA) is associated with early puberty, whereas the effect of large size at birth on timing of puberty is not clear.Objective and hypotheses: To evaluate the timing of puberty in children born SGA and large for gestational age (LGA) compared to children born appropriate for gestational age (AGA).<p class="a...