Endocrine Abstracts

3-M syndrome is an autosomal recessive primordial growth disorder characterized by pre- and post-natal growth restriction, facial dysmorphism and radiological abnormalities. Mutations in the gene CUL7 have been previously shown to cause 3-M syndrome. CUL7 is a member of the cullin family of E3 ubiquitin ligases involved in targeted protein degradation.We identified a large cohort of 3-M syndrome patients who did not carry CUL7 mutations but...

It is known that acromegaly may be associated with headache as a significant co-morbidity. Amongst all acromegaly headache patients, there is a unique group with specific types of severe headache that fail to improve despite acromegaly therapy and are resistant to conventional analgesics, however, immediately respond to subcutaneous short-acting (SA) somatostatin analogue (SSA) treatment. We have surveyed 8 tertiary specialist UK centres and identified 18 patients (6 females) ...

Acromegaly, a chronic disorder of excessive growth hormone secretion, leads to functional limitation and impaired mobility most commonly due to arthropathy. Patients with biochemically controlled acromegaly have reported persistent impairment in prior studies. We aimed to compare the functional differences in patients with biochemically controlled acromegaly to those with uncontrolled disease by means of validated questionnaires. Between March 2017 and May 2022, patients over ...

Acromegaly is caused by excessive growth hormone (GH) and insulin-like growth factor (IGF-1) secretion. Arthropathy is a leading cause of morbidity and impaired quality of life in acromegalic patients, often persisting despite therapeutic interventions and biochemical control. This cross-sectional study aimed to characterise the extent and impact of arthropathy in terms of pain and functional impairment. Validated questionnaires, including DASH (Disabilities of the Arm, Should...

One of the most prevalent clinical manifestations of acromegaly is arthropathy which persists despite adequate symptom and biochemical control, and contributes to impaired quality of life. Patients with acromegaly have high psychiatry morbidity and increased prevalence of depression and poor psychological wellbeing. In a large cohort we aim to determine the effects of joint disease and disease control on quality of life in acromegaly. Eighty-five patients (45 women; median age...

Aims: Screening for celiac disease in adult type 1 diabetics and studying its clinical and paraclinical profile.Patients and methods: Cross-sectional descriptive study conducted among 150 adult type 1 diabetic patients followed in Department A of the National Institute of Nutrition of Tunis. All patients underwent serological screening for celiac disease.Results: The prevalence of histologically confirmed celiac disease was 3.33% w...

Background: Current conclusions on risk of second brain tumour following radiotherapy for pituitary adenoma or craniopharyngioma are challenged methodologically by small patient sample size, selection biases or lack of appropriate controls.Objective: To ascertain whether radiotherapy for pituitary adenoma or craniopharyngioma is associated with increased second brain tumour risk, through use of appropriate methodology.Design: Multi...

Background: The risk of a second brain tumour following radiotherapy for pituitary adenoma or craniopharyngioma in adults is currently unclear. Studies are methodologically limited by small patient sample size, few case events, selection biases or the use of inappropriate controls.Objective: To ascertain whether radiotherapy delivered to adults with pituitary adenoma or craniopharyngioma is associated with an increased second brain tumour risk using appr...

Background: Following vaccination for SARS-CoV-2 a significant proportion of individuals experience moderate to severe symptoms. In patients with adrenal insufficiency (AI) this has been reported to translate in to need for increased glucocorticoids and incipient or frank adrenal crises. We assessed occurrence of symptoms, need for glucocorticoid dose adjustment and crises in a large cohort of patients with AI following vaccination for SARS-CoV-2.Methods...

Nelson’s syndrome (NS) is a potentially severe complication following bilateral adrenalectomy for Cushing’s disease (CD). Series assessing outcomes of treatments for NS are limited by small sample size, often short follow-up and variability of success criteria. We performed a UK multi-centre study aiming to review outcomes of primary treatment for NS. Clinical, laboratory, imaging data were collected. Kaplan-Meier method, log-rank test, Cox regression analysis were u...