Endocrine Abstracts

Introduction: The age of onset and severity of thyroid disease in MEN2 kindreds can be variable, resulting in wide intrafamilial heterogeneity, despite the same oncogenic driver RET pathogenic variant being present. Our study sought to investigate the RET kinomic landscape in MEN2 to discover new biomarkers and to provide further mechanistic insights into malignant disease progression, focussing on paediatric cases.Metho...

Background: William-Beuren region duplication syndrome (WBDS) is a rare multisystem disease caused by the gain on chromosome 7q and transmitted autosomal dominant, with approximately a population frequency of 1 in 13,000-20,000. The age of diagnosis is variable, but generally, it is diagnosed during childhood. It include endocrine (growth hormone deficiency) and non-endocrine (facial dysmorphology, cardiovascular problems, gastrointestinal and genitourinary problems, neurologi...

Prostate cancer (PCa) is one of the leading causes of cancer deaths among men population worldwide. This tumour pathology is commonly diagnosed through the determination of serum PSA levels. However, the diagnostic capability of PSA dramatically drops when considering patients with PSA levels lower than 10 ng/ml, the so-called “grey-zone”1. Therefore, additional non-invasive diagnostic biomarkers are urgently needed to substitute/complement PSA. In this se...

Background: When evaluating a patient for central adrenal insufficiency (CAI), there is a wide range of morning cortisol values for which no final conclusion on hypothalamus-pituitary-adrenal (HPA) axis function can be drawn; in these cases, a stimulation test is required. Aim of this study was to develop an integrated model for the prediction of CAI when morning cortisol is in the grey zone, here defined as 40.0-160.0 μg/l.Methods: Overall, 119 pat...

Introduction: GH deficiency (GHD) is associated with reduced bone mineral density (BMD) and treatment leads to its increase. BMD, a quantitative bone parameter, doesn’t bring whole information about bone status. Nowadays, bone quality shows as main determinant of bone strength, fracture prediction and treatment effect monitoring. A method to assess bone quality through the grey-level texture analysis from lumbar spine DXA scan is trabecular bone score (TBS).<p class="...

AMEND provides information resources and support services to families with MEN syndromes, offering free membership, educational and peer support events, and a free Counselling Service provided by rare disease specialist psychotherapy organisation, Rareminds. Our 2021 Counselling Service feedback data (n=24) showed that the biggest issue by far for patients is dealing with their diagnosis (39% of respondents). Managing symptoms and treatment are also significant issues...

Lay summary uses are multitudinous with their overall purpose being to engage the average person’s interest and thereafter increase their understanding of a subject unfamiliar to them. In medicine, there is rightly an emphasis on ensuring that a patient fully understands what is happening to them in order that they may become an effective participatory member in their own care. However, literacy levels are surprisingly low, even in developed nations, and it therefore foll...

These days, many children with a RET gene change are diagnosed through genetic screening programmes when there is a parent with the gene change. I wasn’t one of those children and was not diagnosed with MEN2 until I was 31 years old. My son was diagnosed through screening at 2 years old. I will share our family’s story of how we adjusted to the ’new normal’, and how we live with this condition day-to-day more than 20 years down the line. I will also share s...

Background: In acromegaly, few in vivo data exist on changes of the brain parenchyma as a pathology caused by systemically elevated levels of GH and IGF-1. This is in contrast to neuropsychiatric symptoms such as depression, cognitive impairment, personality changes and pain syndromes that accompany the condition. We aimed at measuring brain tissue volumes and white matter pathology in acromegaly.Methods: Forty-three patients (age 54±14 years...

First TBSRTC editions have made advances in problems of thyroid management. However, the real grey zone ‘AUS/FLUS’ and ‘FN/SFN’categories have been remained to be problematic with the wide range of ROMs documented in the literature alongside two editions. The ROMs of ‘AUS/FLUS’ and ‘FN/SFN’ categories were defined as 5-15% and 15-30% and the management was ‘repeat FNA’ and ‘lobectomy’ -respectively- in the first editi...