Searchable abstracts of presentations at key conferences in endocrinology

ea0044cc6 | Featured Clinical Cases | SFEBES2016

Vitamin D-Dependent Rickets Type I caused by a Novel Frameshift Mutation of the 25-hydroxyvitamin D1-alpha-hydroxylase gene (CYP27B1)

Stokes Victoria , Gorvin Caroline , Shine Brian , Thakker Rajesh

Vitamin D-dependent rickets type-1 (VDDR1) is an autosomal recessive disorder characterised by onset of rickets by 2 years of age, accompanied by poor growth and hypotonia, muscle weakness, seizures, hypocalcaemia with secondary hyperparathyroidism, hypophosphataemia and normal plasma 25-hydroxyvitamin D (25(OH2)D) concentration that distinguishes VDDR1 from vitamin D deficient rickets. VDDR1 is caused by loss-of-function mutations of the 25-hydroxyvitamin D 1-alpha...

ea0059ep93 | Reproduction | SFEBES2018

The challenge of diagnosing 5-alpha-reductase deficiency post gonadectomy

Miles Stephanie , Shears Deborah , Shine Brian , Grossman Ashley , Pal Aparna

A 35 year old woman was referred to Endocrinology after imaging investigating unexplained pyrexia demonstrated an absent uterus. She was of Pakistani origin and was born phenotypically female with reported normal female genitalia. During late teenage years she experienced virilisation with deepening voice, increased pubic and axillary hair and clitoromegaly. She had absent breast development. Her parents were first cousins and siblings were unaffected. Investigations in Pakist...

ea0013p212 | AMEND Young Investigator's Award | SFEBES2007

No change in brain natriuretic peptide levels after parathyroidectomy for primary hyperparathyroidism

Mihai Radu , James Tim , Shine Brian , Sadler Greg

Introduction: Echocardiographic studies in patients with primary hyperparathyroidism (PHPT) suggest that up to half of patients have left ventricular dysfunction and an increased risk of congestive heart failure that improve after parathyroidectomy. The cardiac hormone B-type natriuretic peptide (BNP) is an independent risk marker for heart failure.Methods: Prospective cohort study of consecutive unselected patients with biochemical diagnosis of PHPT. Pl...

ea0050p044 | Bone and Calcium | SFEBES2017

Disruption of the G-protein subunit α11 (Gα11) interdomain interface causes autosomal dominant hypocalcemia type-2 (ADH2)

Gorvin Caroline , Cranston Treena , Homfray Tessa , Shine Brian , Hannan Fadil , Thakker Rajesh

Heterotrimeric G-proteins are important molecular switches that transduce extracellular ligand-binding at G-protein-coupled receptors (GPCRs) to intracellular signals. G-protein alpha-subunits (Gα) have two domains, a helical and GTPase domain, which provide structural stability and mediate GTPase activity, respectively. Gain-of-function Gα mutations cause endocrine conditions including McCune-Albright Syndrome, due to Gαs mutations, and a...

ea0050p044 | Bone and Calcium | SFEBES2017

Disruption of the G-protein subunit α11 (Gα11) interdomain interface causes autosomal dominant hypocalcemia type-2 (ADH2)

Gorvin Caroline , Cranston Treena , Homfray Tessa , Shine Brian , Hannan Fadil , Thakker Rajesh

Heterotrimeric G-proteins are important molecular switches that transduce extracellular ligand-binding at G-protein-coupled receptors (GPCRs) to intracellular signals. G-protein alpha-subunits (Gα) have two domains, a helical and GTPase domain, which provide structural stability and mediate GTPase activity, respectively. Gain-of-function Gα mutations cause endocrine conditions including McCune-Albright Syndrome, due to Gαs mutations, and a...

ea0066oc5.10 | Oral Communications 5 | BSPED2019

Review of neonatal cortisol evaluation between 2012–2018 in a single centre: trends, outcomes and associations

Makaya Taffy , Sarvasiddhi Satish , van Boxel Elizabeth , Menon Smrithi , Shine Brian

Background: Neonatal cortisol assessment is indicated in suspected adrenal insufficiency.Aims/objectives: Review of neonatal cortisol assessment within our Trust over seven years, to analyse trends, indications, outcomes; and relationships between gestational age (GA), birth weight (BW) and cortisol assessment.Methodology: From cortisol results on neonates (≤30 days age) between 2012–2018 (inclusive) we identified random...

ea0046p4 | (1) | UKINETS2016

Measurement of urinary 5-hydroxyindole acetic acid: correlation between spot versus 24-hour urine collection

Calanchini Matilde , Tadman Michael , Krogh Jesper , Fabbri Andrea , Grossman Ashley , Shine Brian

Introduction: In neuroendocrine tumours (NETs), the urinary concentration of the serotonin metabolite 5-hydroxyindole acetic acid (5-HIAA) is used to monitor disease progression or treatment response. The sensitivity and specificity in the presence of the carcinoid syndrome are approximately 70 and 90%, respectively. Collecting a 24 hour urine specimen is difficult and inconvenient for patients and increases analytical variability. In addition, serotonin-containing foods may i...

ea0046p29 | (1) | UKINETS2016

Succinate dehydrogenase subunit-B mutation with associated prolactinoma and typical carcinoids

Calanchini Matilde , Shine Brian , Wang Lai Mun , Fabbri Andrea , Grossman Ashley

Case Report: A 42 year-old male, with a family history of phaeochromocytomas and paragangliomas, was diagnosed as a carrier of the succinate dehydrogenase subunit-B (SDHB) mutation. He was also diagnosed with macroprolactinoma and treated with cabergoline (currently 250 mcg weekly). A contrast CT chest scan, performed as part of the surveillance program for SDHB-associated tumours, revealed a small right lung lesion, which was found to be OctreoScanTM positive. The ...

ea0044p25 | Adrenal and Steroids | SFEBES2016

Random spot urinary metanephrines compared to 24-h collection in the diagnosis and follow up of phaeochromocytomas and paragangliomas: preliminary results

Sbardella Emilia , Isidori Andrea M , Shine Brian , Jafar-Mohammadi Bahram , Grossman Ashley B

Introduction: Phaeochromocytomas and paragangliomas (PPGLs) are rare tumours with high morbidity. The majority are benign and surgically curable, but genetic testing suggests that many are associated with germline mutations, and careful long-term follow-up of patients and their family members is important. Regular biochemical screening with plasma or urinary metanephrines (uMetanephrines) is essential, but currently 24-h collections of uMetanephrines is cumbersome and inconven...

ea0044p160 | Neuroendocrinology and pituitary | SFEBES2016

Measurement of urinary 5-hydroxyindole acetic acid: correlation between spot vs 24-h urine collection

Calanchini Matilde , Tadman Michael , Krogh Jesper , Fabbri Andrea , Grossman Ashely , Shine Brian

Introduction: In patients with neuroendocrine tumours (NETs), the urinary concentration of the serotonin metabolite 5-hydroxyindole acetic acid (5-HIAA) is used to monitor disease progression or response to treatment. The sensitivity and specificity in the presence of the carcinoid syndrome are approximately 70 and 90%, respectively. However, there are problems with the accurate meaurement of a 24-h collection, and this is often inconvenient for patients. In addition, serotoni...