Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep105 | Pituitary and growth | BSPED2015

Childhood somatotroph pituitary adenomas due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations

Coxson Edward , Barton John , Dang Mary , Korbonits Marta , Burren Christine

Introduction: Two childhood cases of somatotroph pituitary adenomas caused by aryl hydrocarbon receptor interacting protein (AIP) mutations highlight the importance of screening for familial isolated pituitary adenoma (FIPA) genes and wider family implications.Case 1: A 13.5-year-old girl presented with 5 years growth acceleration and size ten feet, with no headache or visual disturbance. Examination: coarse facial features, large hands and feet...

ea0059ep78 | Neuroendocrinology and pituitary | SFEBES2018

Gigantism due to two different causes in the same family – AIP mutation-positive acromegaly and Marfan syndrome

Marques Pedro , Collier David , Barkan Ariel , Korbonits Marta

Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 30% of pituitary gigantism cases. However, pathological accelerated growth and/or tall stature can be unrelated to the growth hormone (GH) axis, and may occur in isolation or as part of a syndrome, such as in Klinefelter, Marfan or Sotos syndromes. We report a five-generation kindred with two brothers with pituitary gigantism due to AIP mutation-positive GH-secreting pi...

ea0034p91 | Clinical practice/governance and case reports | SFEBES2014

Kallmann syndrome, gender dysphoria, thrombophilia and multiple sclerosis: a complex case report

Renukanthan Aniruthan , Quinton Richard , Turner Ben , Korbonits Marta

A 34-year-old male with two decades of gender identity issues considered gender reassignment and attended pre-orchidectomy sperm-banking when he was found to be azoospermic. He described a history of difficulty learning to play the piano and of deep-vein thrombosis at 19 years. He was 187 cm tall with a span of 189.7 cm, and exhibited L-sided undescended testis, R testis 1.8×2.5×3.7 cm, bilateral prominent gynaecomastia, a female body habitus, micropenis, bimanual sy...

ea0032p823 | Pituitary–Basic (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Gene expression profiling of familial and sporadic pituitary adenomas

Barry Sayka , Gadaleta Emanuela , Chelala Claude , Korbonits Marta

Background: Familial isolated pituitary adenoma (FIPA) is recently identified autosomal dominant condition with incomplete penetrance. Heterozygote mutations have been identified in the aryl-hydrocarbon receptor interacting protein (AIP) gene in 20–30% of FIPA families. AIP mutation positive patients have distinct phenotype: the disease is occurring at a younger age and have more aggressive tumours.Aims: The aim of this study was to perform comparat...

ea0031oc5.2 | Pituitary and neoplasia | SFEBES2013

The role of microRNA miR-34a in the regulation of aryl hydrocarbon receptor interacting protein

Denes Judit , Kasuki Leandro , Trivellin Giampaolo , Gadelha Monica , Korbonits Marta

Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene predispose to early onset pituitary adenoma, with a preponderance of somatotrophinomas. Patients harbouring an AIP mutation respond poorly to somatostatin analogue (SSA) treatment. On the other hand, a subset of sporadic somatotrophinomas with no AIP mutations show low AIP protein expression and exhibit a decreased response to SSA treatment as well. microRNAs are small...

ea0031p58 | Clinical practice/governance and case reports | SFEBES2013

De Novo HNF1b mutation as a cause for chronic treatment-resistant hypomagnesaemia

Stiles Craig , Kumar Ajith , Bockenhauer Detlef , Korbonits Marta

A 29y female presented with an 8y history of hypomagnesaemia. It was noted incidentally when hospitalised with mumps-related pancreatitis. Subsequently symptomatic hypomagnesaemia, with headaches and lethargy, was treated with magnesium glycerol phosphate 4 mg TDS, but she remained symptomatic with occasional need of IV Mg2+. It was thought that she was poorly compliant with her oral Mg2+ supplements. At presentation to our department for follow-up of her...

ea0031p249 | Pituitary | SFEBES2013

‘Invasion signature’ revealed by the analysis of AIP positive and AIP mutation negative human pituitary adenomas

Barry Sayka , Gadaleta Emanuela , Chelala Claude , Korbonits Marta

Background: Familial isolated pituitary adenoma (FIPA) is an autosomal dominant condition with incomplete penetrance. Heterozygote mutations have been identified in the aryl-hydrocarbon receptor interacting protein (AIP) gene in 20% of FIPA families causing young-onset aggressive tumours.Aims: The aim of this study was to perform comparative gene expression microarray analysis of familial AIP positive and AIP negative adenomas and compare them to sporadi...

ea0025p23 | Bone | SFEBES2011

Ablation of AMP-activated protein kinase (AMPK) α1 catalytic subunit in mice leads to decreased bone loss after ovariectomy and impaired bone response to intermittent PTH treatment

Shah Mittal , Viollet Benoit , Korbonits Marta , Chenu Chantal

AMPK is a key regulator of cellular and body energy homeostasis. We previously demonstrated that AMPK activation in osteoblasts increases bone formation in vitro while deletion of the AMPKα1 subunit leads to decreased bone mass in vivo. To determine whether bone turnover can be stimulated in the absence of AMPKα1 subunit, we subjected WT and AMPKα1−/− mice to catabolic (ovariectomy: OVX) and anabolic (intermittent PTH adminis...

ea0025p164 | Diabetes, metabolism and cardiovascular | SFEBES2011

Chronic GH excess is associated with adenosine monophosphate-activated protein kinase (AMPK) threonine-172 phosphorylation changes that do not lead to changes in AMPK activity

Thomas Julia , List Edward , Kopchick John , Grossman Ashley , Korbonits Marta

GH influences multiple metabolic pathways. Excess GH (acromegaly) causes a distinct form of cardiomyopathy, which may progress to fulminant heart failure. AMPK is an energy conservation enzyme that modulates multiple areas of the cell stress response, inhibiting anabolism and promoting catabolism. AMPK is activated by phosphorylation at Thr172 and measurement of Thr172 phosphorylation is thought to correlate with enzyme activity. We investigated the influence of GH on cardiac ...

ea0021p303 | Pituitary | SFEBES2009

Oncogene-induced senescence occurs in human pituitary adenomas

Khan Munayem , Chahal Harvinder , Jordan Suzzane , Korbonits Marta , Grossman Ashley

Pituitary adenomas are benign tumours, which do not involve mutations in tumour suppressor genes or oncogenes. We have shown that the canonical Raf/MAPK and PI(3)K/Akt pathways are over-activated in these tumours, but their downstream effectors are modified to a much lesser extent. It is probable that the oncogenic mutations responsible for the initiation of these tumours therefore lies proximal to the convergence of these pathways, at or even upstream to the growth factor rec...