Searchable abstracts of presentations at key conferences in endocrinology

ea0034p184 | Neoplasia, cancer and late effects | SFEBES2014

Diagnosis of adrenocortical carcinoma; urinary steroid profiles measured by GC:MS

McManus Frances , Hannay Jonathan , O'Dwyer Patrick , Shapiro David , Freel Marie

Introduction: Gas chromatography/mass spectrometry based steroid profiling has been proposed as a tool for differentiating adrenocortical carcinoma (ACC) from benign adrenocortical adenoma (ACA). We retrospectively examined urinary steroid profiles from ten patients with ACC and 14 patients with ACA to determine, if the steroid profiles were predictive in distinguishing benign from malignant disease.Methods: Patients who had undergone adrenalectomy for r...

ea0050cmw2.2 | Workshop 2: Hyper and Hypocalcaemia | SFEBES2017

Familial hypocalciuric hypercalcaemia

Hannan Fadil

Familial hypocalciuric hypercalcaemia (FHH) is a rare but highly penetrant autosomal dominant condition, which is characterised by lifelong mild-to-moderate hypercalcaemia in association with normal or mildly raised serum parathyroid hormone (PTH) concentrations. FHH is considered to be a benign and asymptomatic condition, which in general requires no specific treatment. However, as this disorder has a similar serum biochemical phenotype to primary hyperparathyroidism (PHPT), ...

ea0050cmw2.2 | Workshop 2: Hyper and Hypocalcaemia | SFEBES2017

Familial hypocalciuric hypercalcaemia

Hannan Fadil

Familial hypocalciuric hypercalcaemia (FHH) is a rare but highly penetrant autosomal dominant condition, which is characterised by lifelong mild-to-moderate hypercalcaemia in association with normal or mildly raised serum parathyroid hormone (PTH) concentrations. FHH is considered to be a benign and asymptomatic condition, which in general requires no specific treatment. However, as this disorder has a similar serum biochemical phenotype to primary hyperparathyroidism (PHPT), ...

ea0049s1.2 | Clinical Updates in Hypoparathyroidism | ECE2017

Acquired hypoparathyroidism

Hannan Fadil

Hypoparathyroidism is characterized by absent or low circulating concentrations of parathyroid hormone (PTH), which results in hypocalcaemia, hyperphosphataemia and impaired renal reabsorption of calcium. Hypoparathyroidism has a prevalence of ~20–40 cases per 100 000 individuals, and anterior neck surgery accounts for around 75% of cases. Postsurgical hypoparathyroidism may arise in patients undergoing total thyroidectomy, radical neck dissection for head and neck malign...

ea0035s28.3 | Molecular pathophysiology for clinicians: receptor-related disorders | ECE2014

Disorders related to calcium-sensing receptor signalling

Hannan Fadil

The extracellular calcium (Cao2+)-sensing receptor (CaSR) is a family C G-protein-coupled receptor (GPCR) that regulates Cao2+ homeostasis by detecting alterations in Cao2+ concentrations and triggering Gq/11 signaling cascades, which modulate parathyroid hormone (PTH) secretion and urinary calcium excretion. Loss-of-function mutations of the CASR gene, located on chromosome 3q21.1, lead to familial h...

ea0094pl10.1 | Clinical Endocrinology Journal Foundation Lecture | SFEBES2023

Hormonal changes initiating human lactation

Hannan Fadil

Lactation is a hormonally controlled process that promotes infant growth and development and reduces the long-term maternal risk of diabetes, cardiovascular disease and breast cancer. Hormones, such as prolactin and progesterone, mediate mammary development during pregnancy and are critical for initiating copious milk secretion during postpartum days 1-4. However, the hormone concentrations and mechanisms mediating lactation onset during this period of secretory activation are...

ea0094p294 | Thyroid | SFEBES2023

Development of a thyroid patient database in conjunction with the IT system development team at a DGH

Smurthwaite Hannah

In September 2021 the pathology department announced it would be going paperless, a change that resulted in endocrine monitoring being added to the trust risk register. To manage this risk several options were considered including the DAWN system used by rheumatology and systems used by other local hospitals. Unfortunately, none of these were viable options. Discussions were started with the IT systems development team about building a database for management of thyroid patien...

ea0050p045 | Bone and Calcium | SFEBES2017

Uniparental isodisomy as a cause of the autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome

Cranston Treena , Boon Hannah , Ryan Fiona , Shears Debbie , Thakker Rajesh , Hannan Fadil

The autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is an autosomal recessive disorder characterized by immune deficiency and the autoimmune destruction of endocrine organs such as the parathyroids, adrenal cortex and ovaries. APECED is caused by biallelic germline mutations of the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which is expressed in thymic medullary epithelial cells and plays a key role ...

ea0050p182 | Clinical Biochemistry | SFEBES2017

Clinical evaluation of a multiple-gene sequencing panel for hypoparathyroidism

Stokes Victoria , Cranston Treena , Boon Hannah , Gorvin Caroline , Hannan Fadil , Thakker Rajesh

Hypoparathyroidism may occur as: a hereditary syndromic disorder (e.g. Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), Hypoparathyroidism Sensorineural Deafness and Renal Disease (HDR), Autosomal Dominant Hypoparathyroidism type 1 (ADH1), or ADH type 2 (ADH2), which are due to mutations of autoimmune regulator (AIRE), GATA binding protein 3 (GATA3), calcium-sensing receptor (CASR) and G-protein sub...

ea0050p045 | Bone and Calcium | SFEBES2017

Uniparental isodisomy as a cause of the autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome

Cranston Treena , Boon Hannah , Ryan Fiona , Shears Debbie , Thakker Rajesh , Hannan Fadil

The autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is an autosomal recessive disorder characterized by immune deficiency and the autoimmune destruction of endocrine organs such as the parathyroids, adrenal cortex and ovaries. APECED is caused by biallelic germline mutations of the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which is expressed in thymic medullary epithelial cells and plays a key role ...