Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2019

Brighton, United Kingdom
11 Nov 2019 - 13 Nov 2019

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Come and exchange knowledge, share experiences and strengthen collaborations across our global community of endocrinologists!


Bone and Calcium

ea0065oc3.1 | Bone and Calcium | SFEBES2019

A mouse model generated by CRISPR-Cas9 with a frameshift mutation in the nuclear factor 1/X (NFIX) gene has phenotypic features reported in Marshall-Smith Syndrome (MSS) patients

Kooblall Kreepa , Stevenson Mark , Stewart Michelle , Szoke-Kovacs Zsombor , Hough Tertius , Leng Houfu , Horwood Nicole , Vincent Tonia , Hennekam Raoul , Potter Paul , Cox Roger , Brown Stephen , Wells Sara , Teboul Lydia , Thakker Rajesh

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, short stature, respiratory difficulties, distinctive facial features, skeletal abnormalities (such as kyphoscoliosis, dysostosis and osteopenia) and delayed neural development, and is due to heterozygous mutations that are clustered in exons 6–10 of the transcription factor nuclear factor I/X (NFIX) gene. These frameshift and splice-site NFIX variants result in t...

ea0065oc3.2 | Bone and Calcium | SFEBES2019

Hypophosphatasia in adulthood - are patients really ‘unaffected’

Chong Zhuo Min , Toellner Hannah , Sainsbury Christopher AR , Srivastava Rajeev , Gallacher Stephen J , Ahmed Syed Faisal

Introduction: Hypophosphatasia (HPP) is a very rare systemic musculoskeletal disease characterised by low tissue non-specific alkaline phosphatase (ALP). The prevalence of HPP and its associated morbidity in an adult setting is unclear.Methods: A search for serum ALP results less than 36 IU/l within NHS Greater Glasgow and Clyde between 2017 and 2018 revealed 16 280 results. A further search for patients with two ALP <36 separated by 30 days or more ...

ea0065oc3.3 | Bone and Calcium | SFEBES2019

Generation of a long acting parathyroid hormone hybrid analogue through fusion to a binding protein

Sorour Lina , Ross Richard J , Wilkinson Ian R

Hypoparathyroidism causes severe hypocalcaemia and defective skeletal metabolism. Treatment with calcium and vitamin D supplementation can cause kidney failure whilst native parathyroid hormone (PTH) requires repeated injections and causes renal impairment paralleling high peak and low trough PTH levels. A long-acting PTH, providing constant physiological levels, is needed. LA-PTH, a hybrid of PTH and PTH related peptide, prolongs cAMP responses via altered receptor mechanisms...

ea0065oc3.4 | Bone and Calcium | SFEBES2019

Characterisation of rare GNA11 variants reveals 8 novel residues important for signalling by the calcium-sensing receptor: Relevance for FHH and ADH

Gluck Anna , Lines Kate , Gorvin Caroline , Inoue Asuka , Hannan Fadil , Breitwieser Gerda , Thakker Rajesh

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor that predominantly signals via Gαq/11-mediated pathways to regulate extracellular calcium (Ca2+e) homeostasis. Germline Gα11 inactivating and activating mutations cause familial hypocalciuric hypercalcaemia type-2 (FHH2) and autosomal dominant hypocalcaemia type-2 (ADH2), respectively. To date, four FHH2 and six ADH2 mutations have been reported. To identif...

ea0065oc3.5 | Bone and Calcium | SFEBES2019

Mutational analysis of a patient with familial hypocalciuric hypercalcaemia identifies a novel p.Ser182Cys mutation, which is predicted to disrupt the calcium sensing receptor (CaSR) extracellular domain

Healy Ultan , Olesen Mie Kronborg , Jafar-Mohammadi Bahram , Hannan Fadil M , Thakker Rajesh V

Familial hypocalciuric hypercalcaemia (FHH) is an inherited disorder of calcium homeostasis, which is caused by germline loss-of-function mutations of the calcium-sensing receptor (CaSR) in ˜70% of cases. We report a 22 year old woman who was referred with asymptomatic hypercalcaemia. Biochemical investigations revealed hypercalcaemia on 3 of 4 occasions with adjusted serum calcium ranging from 2.59–2.80 mmol/l (normal range 2.20–2.60 mmol/l). Parathyroid hormon...

ea0065oc3.6 | Bone and Calcium | SFEBES2019

The role of biased calcium-sensing receptor signalling in urinary calcium excretion and kidney stone disease

Goldsworthy Michelle , Bayliss Asha , Gluck Anna , Wiberg Akira , Turney Benjamin , Furniss Dominic , Thakker Rajesh , Howles Sarah

Nephrolithiasis is a major clinical and economic health burden. We performed a genome-wide association study in British and Japanese nephrolithiasis populations and identified twenty nephrolithiasis-associated loci, five of which (DGKD, DGKH, WDR72, GPIC1 and BCR) were predicted to influence calcium-sensing receptor (CaSR) signalling. Gain-of-function CaSR-signalling pathway mutations cause enhanced signalling via intracellular calcium ([Ca2+]...