Searchable abstracts of presentations at key conferences in endocrinology

ea0066oc2.2 | Oral Communications 2 | BSPED2019

A rare but very important cause of growth failure

Cottrell Emily , Ladha Tasneem , Borysewicz-Sańczyk Hanna , Sawicka Beata , Bossowski Artur , Storr Helen L

Introduction: Bloom syndrome (BS) is a rare autosomal recessive disorder caused by mutations in the BLM gene. Classic dysmorphic features include a long, narrow face, micrognathism and prominent nose and ears. Other features of the disease include pre- and post-natal growth failure, skin rash following sun exposure, hyper-pigmented areas or cafe-au-lait lesions, high-pitched voice and immunodeficiency. The most serious complication of BS is the significant increase in...

ea0073aep42 | Adrenal and Cardiovascular Endocrinology | ECE2021

A case of adrenal tuberculosis mimicking non-functioning adrenal incidentaloma

Hirani Dhruti , Ladha Tasneem , Khan Shaila , Hilal Zaib , Palazzo Fausto , Vakilgilani Tannaz

A 77 year old gentleman was referred to the endocrinology team following the incidental finding of an adrenal nodule on computer tomography (CT) colonography. Following this, dedicated CT of the adrenal showed a 4cm nodule with an attenuation of 30 Hounsfield Units. Biochemical investigation found no evidence of adrenal insufficiency or functional hormone production. Subsequent imaging by magnetic resonance imaging (MRI) and further CT showed stable appearances in size of the ...

ea0073ep6 | Adrenal and Cardiovascular Endocrinology | ECE2021

Acute respiratory distress syndrome in a patient with new onset Addison’s disease

Ladha Tasneem , Hilal Zaib , Hirani Dhruti , Moriarty Maura , Bravis Vassiliki , Vakilgilani Tannaz

Primary adrenal insufficiency, Addison’s disease, is a rare endocrine disorder. Early diagnosis is often difficult and the presentation is commonly only recognised after a life threatening adrenal crisis. Fortunately, with appropriate early treatment further complications are uncommon in the acute setting. This case concerns a 19-year-old man who presented with lethargy, dyspnoea on exertion and a one month history of hyperpigmentation. He had a history of nocturnal enure...

ea0078OC6.1 | Oral Communications 6 | BSPED2021

Novel dominant negative GH receptor variants provide important insights into GH receptor physiology

Andrews Afiya , Cottrell Emily , Maharaj Avinaash , Ladha Tasneem , Williams Jack , Metherell Louise A , McCormick Peter J , Storr Helen L

Background: Growth hormone insensitivity (GHI) is a continuum defined by normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is poorly characterised and is frequently underdiagnosed. Heterozygous dominant negative (DN) gene variants located in the regions encoding the intracellular/transmembrane domains of the GH receptor cause a ‘non-classical’ GHI phenotype.Hypothesis/Objective: Detail...

ea0082oc1 | Oral Communications | SFEEU2022

Genetic analysis of patients with undiagnosed short stature identified novel dominant negative GH receptor variants which provide important insights into GHR physiology

Andrews Afiya , Cottrell Emily , Maharaj Avinaash , Ladha Tasneem , Williams Jack , A Metherell Louise , J McCormick Peter , Storr Helen L

Case history: Two unrelated male patients were referred for evaluation of short stature. The first patient aged 16.5 years, had a birth weight of 2.6 kg at term (BWSDS -2.4), height 153 cm (HSDS -3.2) at referral and normal BMI SDS of 0.6. He had early postnatal hypoglycemia, which was conservatively managed, but no other significant clinical history. He had relative macrocephaly and disproportionate short stature. His mother was also short with a similar phenotype (height 147...

ea0066p73 | Pituitary | BSPED2019

Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity

Cottrell Emily , Maharaj Avinaash , Ladha Tasneem , Chatterjee Sumana , Grandone Anna , Cirillo Grazia , del Giudice Emanuele Miraglia , Kostalova Ludmila , Vitariusova Eva , Hwa Vivian , Metherell Louise A , Storr Helen L

Introduction: Growth Hormone Insensitivity (GHI) is characterised by a triad of short stature (SS), IGF-1 deficiency and normal/high GH levels. ‘Classical’ GHI due to homozygous exonic GHR mutations results in extreme SS with dysmorphic and metabolic abnormalities. Heterozygous exon 9 GHR mutations are rare and exert dominant negative effects due to impairment of GHR dimerization/downstream signalling associated with a milder GHI phenotype. Only sev...

ea0073aep86 | Calcium and Bone | ECE2021

A rare case of hypercalcemia in pregnancy- a diagnostic conundrum

Ladha Tasneem , Moriarty Maura , Khan Shaila , Tan Min Yi , Vakilgilani Tannaz , Bravis Vassiliki , Sykes Lynne , Yu Christina , Comninos Alexander , Cox Jeremy , Robinson Stephen , Agha-Jaffar Rochan

Hypercalcaemia in pregnancy is a rare but important finding, given the associated potential risks to mother and baby. These include hypertension, pancreatitis, nephrolithiasis and renal failure in the mother and intrauterine growth restriction, neonatal hypoparathyroidism/hypocalcaemia and stillbirth in the baby (1). We present the case of a 26-year-old female with a background of PTH-independent hypercalcaemia of unknown aetiology. This was initially detected at age 6 months ...