hrp0082p2-d1-460 | Growth | ESPE2014

Skeletal Disproportion and Final Adult Height in Childhood-Onset Crohn’s Disease

Mason Avril , Iljuhhina Jelena , Laird Susan , Ross David , Ahmed Syed Faisal , Gaya Dan R , Gerasamidis Konstantinos

Background: Short stature is a recognized complication of Crohn’s disease (CD) in children. Less is known on the impact of disease on final adult height and body proportions.Objective and hypotheses: To assess height and body proportions in 48 adults (F: 30; M: 18) with childhood (ACO) or adult (AAO) onset CD and 44 children (C) (F:22; M:22) with CD.Method: Standing, sitting height (SH) and leg length (SILL) were measured and ...

hrp0082p2-d1-516 | Pituitary | ESPE2014

Neuroendocrine Dysfunctions Following Traumatic Brain Injury in Children: a 12-Month Prospective Study

Rojo Pilar , Carcavilla Atilano , Ortiz Irene , Arjona David , Borrego Raul , Aragones Angel

Background: Traumatic brain injury (TBI) is a frequent cause of endocrine dysfunctions. However, studies in children are scarce.Objective and hypotheses: To determine pituitary function in children after TBI. To analyze risk factors related with endocrine dysfunctions after 12 months follow up.Method: A prospective study of endocrine function in children after head injury was performed. Data was collected for baseline Glasgow coma ...

hrp0082p2-d1-572 | Sex Development | ESPE2014

Anogenital Distance, Penis Growth, and Masculine Behaviour Evidence for Independent Neurobehavioral Effects of Foetal Versus Postnatal Androgen Exposure in Boys

Pasterski Vickie , Acerini Carlo , Dunger David , Ong Ken , Hughes Ieuan , Thankamony Ajay , Hines Melissa

Background: Associations between foetal androgen deficiency and variations in anogenital distance (AGD) suggest that AGD is a reliable indicator of foetal androgen exposure. Similarly, variation in postnatal penis growth associated with variations in testosterone show penis growth to be a potential biomarker of early postnatal androgen exposure. Though variation in early androgen exposure is also hypothesized to underlie neurobehavioral masculinisation, until now, no reports h...

hrp0082p2-d2-576 | Sex Development (1) | ESPE2014

The Utility of AMH for Predicting Testosterone Response to hCG Stimulation in Children with Suspected DSD

Kyriakou Andreas , McNeilly Jane D , Shaikh Guftar M , Mason Avril , Shapiro David , Ahmed Syed Faisal

Background: In children undergoing investigation of testicular function the relationship between serum anti-Mullerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Method: 75 children (3F, 72M) with a median age of 1.08 years (range, 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an additional prolonged HST. Normal te...

hrp0084wg6.4 | Turner Syndrome | ESPE2015

Management of Middle Ear and Hearing Problems in Turner Syndrome – How Can We Do Better?

Lim David , Donaldson Malcolm , Gault Emma Jane , Clement Andrew , Kubba Haytham , Mason Avril

Background: Otological problems in Turner syndrome (TS) are notoriously common and troublesome, often requiring intervention with adeno-tonsillectomy, insertion of ventilation tubes and occasionally resulting in serious disease such as cholesteatoma.Survey of otological problems in the West of Scotland: A case note review of 174 girls attending the Turner clinic in Glasgow, Scotland from 1989–2015 found that of 155 patients in whom data were availab...

hrp0084fc2.6 | Bone & Mineral Metabolism | ESPE2015

A Contextual Feature-Based Recognition Approach to Quantify Trabecular Microstructure Using 1.5T Axial-MRI: An Innovative Methodology

Dimitri Paul , Lekadir Karim , Hoogendoorn Corne , Armitage Paul , Whitby Elspeth , King David , Eastell Richard , Frangi Alejandro

Background: In-vivo skeletal MRI imaging remains challenging due to the extremely short MR relaxation times (<1 ms) of protons bound to water in bone. However, each MRI sequence contains properties identifiable through feature-based recognition, highlighting characteristics relating to skeletal configuration. We thus present a novel statistical method for clinical 1.5 Tesla (T) MRI in quantifying trabecular microstructure and use HRpQCT to determine its accuracy.<...

hrp0084p1-9 | Adrenal | ESPE2015

Founder Effect and the Clinical and Molecular Characteristics in a Cohort of Classical and Non-Classical Congenital Lipoid Adrenal Hyperplasia Due To StAR Mutations

Abu-Libdeh Abdulsalam , Shokrun Ariella Weinberg , Levy-Lahad Ephrat , Admoni Osnat , Tenenbaum-Rakover Yardena , Zangen David

Background: Classical and non-classical congenital lipoid adrenal hyperplasia (CLAH) are extremely rare condition caused by mutations in StAR. The degree of enzyme activity impairment determines the clinical phenotypes.Objective and hypotheses: To identify the genetic cause of primary adrenal insufficiency in a cohort of patients from 13 unrelated families with classical and non-classical CLAH, to correlate genotype to phenotype and to identify ...

hrp0084p1-20 | Bone | ESPE2015

24-Hydroxylase Polymorphism as a Possible Contributor to the Increased 1,25(OH)2D in African Americans

Carpenter Thomas O , Cole David E C , Ardeshirpour Laleh , Salehpour Shadab

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

hrp0084p2-355 | Fat | ESPE2015

Berardinelli Seip Congenital Lipodystrophy: A Light of Hope

del Campo Maria Ruiz , Moreno Isabel Saenz , Gonzalez Jose Julian Revorio , Araujo-Vilar David

Background: The lipodystrophy syndromes are a heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue (lipoatrophy). Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalised lipodystrophy since birth, insulin resistance, and dyslipemia since early infancy.Case presentation: We report a 6-year-old girl who arrived from Pakistan with...

hrp0084p2-533 | Puberty | ESPE2015

The Relationship between Steriod Receptors and Aromatase in the Mouse Brain

Yilmaz Bertan , Zhao Hong , Brooks David , Fenkci Veysel , Yenicesu Gonca , Attar Erkut , Bulun Serdar

Background: Local oestrogen production in the brain regulates critical functions including neuronal development, gonadotropin secretion and sexual behaviour. In the mouse brain, a 36 kb distal promoter (l.f) regulates the Cyp19a1 gene that encodes aromatase, the key enzyme for oestrogen biosynthesis. In vitro, promoter l.f interacts with oestrogen receptor alpha (Esr1) and Progesterone receptor (Pgr) to mediate Cyp19a1 mRNA expressi...