Searchable abstracts of presentations at key conferences in endocrinology

ea0078OC5.1 | Oral Communications 5 | BSPED2021

Evaluating UK Referral Criteria for Children with Short Stature in a Tertiary Paediatric Endocrinology Centre

White Gemma , Cosier Shakira , Andrews Afiya , Willemsen Ruben H. , Savage Martin O. , Storr Helen L.

Background: Childhood growth monitoring aims to identify growth failure and detect underlying pathology. According to UK guidance, height <-2.7 standard deviation score (SDS) (<0.4th percentile) is used as the referral threshold. Additional referral criteria include height deficit (HSDS-target height SDS) <-2.0 and height velocity (HV) SDS <-1.3. Lack of routine HV and mid-parental height calculation, combined with stricter cut-offs compared to other European c...

ea0033oc1.9 | Oral Communications 1 | BSPED2013

Genetic characterisation of short children with potential defects of GH action by single gene sequencing

Kowalczyk Julia , Gevers Evelien F , Savage Martin O , Dunkel Leo , Metherell Louise A , Storr Helen L

Background: GH resistance or primary IGF1 deficiency (PIGFD) presents with growth failure, low serum IGF1 and normal/elevated serum GH. PIGFD comprises a spectrum of phenotypic and biochemical abnormalities for which genetic GH–IGF1 axis defects may be causative.Objective: Genotyping of PIGFD patients referred for sequencing of candidate genes.Methods: From 2008 to 2013, 62 patients (42 males and 20 females), median age 6.9 ye...

ea0045oc6.6 | Oral Communications 6- Endocrine | BSPED2016

Predictive factors of an underlying genetic defect in children with short stature and suspected growth hormone insensitivity (GHI)

Chatterjee Sumana , Shapiro Lucy , Davies Kate M , Savage Martin O , Metherell Louise A , Storr Helen L

Background: GH insensitivity (GHI) presents with growth failure, IGF-1 deficiency and normal/elevated GH (basal >5 μg/l and/or peak >10 μg/l). GHI encompasses a spectrum of clinical and biochemical abnormalities. Associations between phenotypic characteristics and genetic defects remain obscure.Objective: Identify phenotypic predictors of underlying genetic defects in GHI.Methods: In total of 102 children (62M) me...

ea0063p734 | Pituitary and Neuroendocrinology 2 | ECE2019

A phase 2 study assessing osilodrostat in children and adolescent patients with Cushing’s disease – Rationale and methods

Storr Helen L , Shah Nalini , Wojna Judi , Han Kevin , Roughton Michael , Pierre Combes Francois , Pultar Philippe , Savage Martin O

Background: In children, Cushing’s disease (CD) presents with a combination of weight gain and slowed linear growth. First-line pituitary surgery is the treatment of choice for most patients. In paediatric patients, the transsphenoidal surgical success rate is 60%–98% when performed by an expert pituitary surgeon. There is a need for additional pharmacological interventions to control hypercortisolaemia, which are currently limited, in children and adolescents. In ph...

ea0036P11 | (1) | BSPED2014

The accuracy of 24-h urinary free cortisol as a screening test in the diagnosis of Cushing's syndrome in children

Shapiro Lucy , Elahi Shezan , Bailey Joe , Martin Lee , Drake William M , Savage Martin O , Storr Helen L

Background: Endogenous Cushing’s syndrome (CS) in children remains a challenge to diagnose and exclude. 24-h urinary free cortisol (UFC) measurements are a convenient, non-invasive test for paediatric patients.Objective: To assess the screening accuracy of 24-h UFC measurements in paediatric patients referred to our centre for evaluation of possible CS.Methods: A retrospective review of children referred to our centre between ...

ea0030p2 | (1) | BSPED2012

Outcome of endoscopic transsphenoidal pituitary surgery in four paediatric Cushing's disease patients: a new therapeutic approach

Storr Helen L , Drake William M , Akker Scott A , Monson John P , Savage Martin O , Alusi Ghassan , Sabin H Ian

Selective transsphenoidal adenomectomy remains the accepted first line treatment for Cushing’s disease (CD), until recently by microscopic (sublabial) transsphenoidal pituitary surgery. Endonasal transsphenoidal endoscopic surgery is emerging as a novel, less invasive treatment for pituitary adenomas with lower postoperative complications and morbidity. The safety of endoscopic surgery has been extensively reviewed in adult patients and is now considered best practice for...

ea0022p713 | Obesity | ECE2010

Gastric inhibitory polypeptide (GIP) suppresses circulating ghrelin in humans: plasma metabolome based correlation network analysis for support of hormone-to- hormone interactions

Rudovich Natalia , Nikiforova Victoria J , Otto Baerbel , Pivovarova Olga , Gogebakan Ozlem , Weickert Martin O , Nauck Michael A , Pfeiffer Andreas F H

Aims: We investigate the influence of GIP on ghrelin secretion in normal glucose tolerant individuals with the use of the firstly applied correlation network analysis on human plasma metabolome data.Methods: To address this issue, we employed a GIP-infusion test and euglycemic- and hyperglycemic glucose clamp experiments combined with infusion of GIP or placebo in a cross-over manner in non diabetic obese male subjects (n=14). Moreover, we firstly...

ea0016p201 | Diabetes and cardiovascular diseases | ECE2008

No genetic impact of the SOCS3-gene on T2DM

Fischer Antje , Fisher Eva , Moehlig Matthias , Osterhoff Martin , Weickert Martin O , Pfeifer Andreas FH , Boeing Heiner , Spranger Joachim

The diabetic epidemic is increasing worldwide. The suppressor of cytokine signaling 3 (SOCS3) provides a link between cytokine action and their negative consequences on insulin signaling. This potential influence on the development of T2DM makes the gene a potential candidate gene for type 2 diabetes.We investigated the one haplotype tagging single nucleotide polymorphism (htSNP) rs4969168 to examine the impact on T2DM in two independent study population...

ea0016p515 | Obesity | ECE2008

Glucose-dependent insulinotropic polypeptide (GIP) receptor knock-out prevents ovariectomy-induced obesity in mice

Isken Frank , Pfeiffer Andreas FH , Nogueiras Ruben , Osterhoff Martin A , Ristow Michael , Thorens Bernard , Tschop Matthias H , Weickert Martin O

Objectives: Premature estrogen deficiency and menopause are associated with increases in body weight and fat mass. Ovariectomized (OVX) mice also show reduced locomotor activity. Because glucose-dependent-insulinotropic-polypeptide (GIP) is known to play an important role both in fat metabolism and locomotor activity, we hypothesized that effects of estrogen on the regulation of body weight, fat mass and spontaneous physical activity could be mediated in part by GIP signaling....

ea0016p540 | Obesity | ECE2008

Retinol-binding protein 4 is independently associated with insulin resistance in PCOS women

Mohlig Matthias , Weickert Martin O , Ghadamgahi Elham , Arafat Ayman M , Spranger Joachim , Pfeiffer Andreas FH , Schofl Christof

Objective: Adiposity, insulin resistance, and hyperandrogenism are features of the polycystic ovary syndrome (PCOS). Retinol-binding protein 4 (RBP4) secreted from adipose and liver tissue has been linked to insulin resistance. We here address the impact of RBP4 on insulin resistance in PCOS and its usability to identify women with metabolic syndrome or impaired glucose metabolism (IGT or diabetes).Design: RBP4 was determined in plasma of 115 PCOS...