Searchable abstracts of presentations at key conferences in endocrinology

ea0044ep79 | (1) | SFEBES2016

Pseudoacromegaly - a differential diagnostic problem for acromegaly

Spencer Rupert , Dahlqvist Per , Dang Mary N. , Johannsson Gudmundur , Korbonits Marta

Introduction: Acromegaly is usually not a difficult condition to diagnose if the possibility of this diagnosis has been raised. However, there are a few conditions presenting with some aspects of acromegaly or gigantism but without growth hormone excess. Such cases are described as ‘pseudoacromegaly’ (acromegaloidism).Methods: A female patient was first investigated for GH excess at 10 y for tall stature since infancy (over 97th perc...

ea0039oc5.10 | Oral Communications 5 | BSPED2015

Pegvisomant treatment for X-linked acrogigantism syndrome

Coxson Edward , Iacovazzo Donato , Bunce Benjamin , Jose Sian , Ellard Sian , Sampson Julian , Korbonits Marta , Burren Christine

Introduction: Chromosome Xq26.3 microduplications have recently been identified, and explained this 11-year-old girl’s marked tall stature. Her severe phenotype illustrates X-linked acrogigantism (X-LAG) and demonstrates therapeutic benefit from growth hormone receptor blockade.Case: A 5.6-year-old girl presented with growth acceleration from 3 years and appearance of secondary dentition, greasy skin and blackheads from age 4. Past medical and famil...

ea0059cc4 | Featured Clinical Cases | SFEBES2018

A novel case of primary hypogonadism in female associated with Loeys-Dietz syndrome type 5

Lim Chung Thong , Bertalan Rita , Davies Ceri , McElreavey Kenneth , Korbonits Marta

A 31-year-old female was referred to Endocrinology clinic for review of her hypergonadotrophic-hypogonadism. She had cleft palate operation at age 3. At age 15y lack of pubertal signs prompted investigations showing XX genotype, FSH:120 IU/L, LH:32 IU/L and low E2. She was started on cyclo-progynova (elsewhere). She has tall stature, span 2.5 cm longer than height, bifid uvula, arachnodactyly with positive ‘wrist sign’, mild scoliosis, pectus excavatum and reduced mu...

ea0038fp11 | (1) | SFEBES2015

Potential molecular mechanism of AIP-mediated cellular invasion

Barry Sayka , Carlsen Eivind , Saleh Jumana A , Gadaleta Emanuela , Chelala Claude , Korbonits Marta

Background: Heterozygote germline mutations in the aryl-hydrocarbon receptor interacting protein (AIP) gene play a role in the pathogenesis of pituitary adenoma development in familial isolated pituitary adenoma as well as simplex pituitary adenoma cases. AIP mutation positive patients develop often aggressively growing tumours in early teenage years.Aims: The aim of this study was to perform comparative gene expression analysis of AIP mutation-positive ...

ea0038p300 | Pituitary | SFEBES2015

The effect of AIP on AHR transcriptional activity: implications for AIP mutations pathogenicity

de Oliveira Andrade Matheus , Soare Dan Sebastian , Radian Serban , Korbonits Marta

Background: AIP mutations cause sporadic and familial pituitary adenomas, but establishing the pathogenic role of missense AIP variants with unknown significance is difficult. The AIP interaction partner AHR – a xenobiotic-activated transcription factor – regulates transcription of xenobiotic-metabolising enzymes, mediates xenobiotic toxicity, and has been implicated in tumorigenesis.Aim: To describe the effect of AIP...

ea0038p301 | Pituitary | SFEBES2015

Investigation of the invasive phenotype of AIP-mutated pituitary adenomas

Stiles Craig , Barry Sayka , Gadaleta Emanuela , Chelala Claude , Shoulders Carol C , Korbonits Marta

Background: Heterozygous germline AIP mutations can lead to young-onset invasive GH-secreting adenomas. There are no data available to explain the proliferative and invasive nature of AIP-mutation positive somatotrophinomas.Methods: Cell viability (MTS assay), invasion (single cell fluorescence invasion assay) and migration assays (Boyden chambers) were used to further characterise the phenotype of AIP-silenced GH3 cells. Affymetrix gen...

ea0038p307 | Pituitary | SFEBES2015

Silencing of aryl hydrocarbon receptor protein (AIP) up-regulates the small Rho GTPase, CDC42

Mothojakan Nadira B , Stiles Craig E , Barry Sayka , Shoulders Carol C , Korbonits Marta

: AIP mutation-positive familial isolated pituitary adenoma is commonly diagnosed in young patients who have a poor prognosis due to large, treatment-resistant tumours. Microarray analysis carried out on AIP knockdown pituitary (GH3) cells and control cells, identified CDC42 as one of the genes that was up-regulated by loss of AIP protein. This small Rho GTPase activates MAPK signalling, suggesting it may contribute to the proliferative phenotype of AIP knock...

ea0036oc1.1 | Oral Communications 1 | BSPED2014

Paediatric pituitary adenomas: rare, complex, and by no means benign

Gan Hoong-Wei , Bulwer Chloe , Jeelani Owase , Korbonits Marta , Spoudeas Helen

Introduction: Pituitary adenomas (PAs) account for <3% of all paediatric supratentorial tumours. Despite being benign, they can cause significant tumour- and treatment-related neuroendocrine and visual morbidity. Patients may be the index case for syndromes such as multiple endocrine neoplasia type 1 (MEN1).Case report: Patient R was referred at 11.9 years with longstanding headaches and bilateral visual deterioration to the point of near-blindness. ...

ea0035oc12.1 | Pituitary Basic | ECE2014

Human AIP gene rescue lethality in a Drosophila melanogaster knockout model of AIP orthologue

Aflorei Elena Daniela , Chen Chenghao , Klapholz Benjamin , Brown Nick , Stanewsky Ralf , Korbonits Marta

Introduction: Heterozygote loss-of-function mutations in AIP (Aryl hydrocarbon receptor interacting protein) predispose to young-onset pituitary adenomas. Homozygote murine knockout model of AIP leads to lethality. While the majority of the 75 published AIP mutations result in truncated or missing proteins, missense mutations are more difficult to characterise and to establish their pathogenic role. We have identified the orthologue of AIP, CG1847, in Drosophila melanogaster. ...

ea0070aep676 | Pituitary and Neuroendocrinology | ECE2020

European Society of Endocrinology audit and multi-country comparison of Adult Growth Hormone Deficiency (AGHD) treatment in clinical practice in Europe and Australia; –how closely are protocols and best practice recommendations followed

Martel-Duguech Luciana , Screen Nik , Jorgensen Jens Otto L , Korbonits Marta , Johannsson Gudmundur , Webb Susan M

Background: Current guidelines recommend that susceptible patients should be tested and treated for AGHD. Still, it is not universally recognised as a distinct entity and reimbursement of GH replacement therapy is not available in some countries.Aim: 1) to record current practice of AGHD management throughout Europe and benchmark it against existing guidelines, 2) to evaluate educational status of health care professionals.Patients...