Centre for Endocrinology
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Research activity in the Centre for Endocrinology spans between clinically applied research in endocrinology to basic research in endocrine signalling pathways.
Recent Submissions
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Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
(American Society for Clinical Investigation, 2024-03-22)Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear. ... -
An update on the genetic drivers of corticotroph tumorigenesis
(2024-01-01)The genetic landscape of corticotroph tumours of the pituitary gland has dramatically changed over the last 10 years. Somatic changes in USP8 account for the most common genetic defect in corticotrophinomas, especially in ... -
Normative data for insulin-like growth factor-1 (IGF-1) in healthy children and adolescents from India.
(2024-05-15)BACKGROUND: Serum IGF-1 is an important biochemical tool to diagnose and monitor GH-related disorders. However, ethnic-specific Indian data following consensus criteria for the establishment of normative data, are not ... -
Abstract P2043: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A Myl2-independent Mechanism
(Wolters Kluwer, 2023-08-04) -
Pseudoacromegaly-A challenging entity in the endocrine clinic: A systematic review.
(Wiley, 2024-03-28)OBJECTIVE: Pseudoacromegaly encompasses conditions with features of acromegaly/gigantism, but no growth hormone (GH) or insulin-like growth factor-1 (IGF-1) excess. We aimed to review published pseudoacromegaly cases ... -
Beware of epistaxis: fatal pseudoaneurysm rupture 30 years after treatment of acromegaly.
(BMJ Publishing Group, 2024-04-19)We present a fatal complication of treatment in a patient with early-onset acromegaly, treated with two transsphenoidal operations, radiotherapy, radiosurgery and pegvisomant. He was diagnosed in his 30s, and controlled ... -
Bone mineral density, turnover, and microarchitecture assessed by second-generation high-resolution peripheral quantitative computed tomography in patients with Sheehan's syndrome.
(2024-03-20)UNLABELLED: Sheehan's syndrome (SS) is a rare but well-characterized cause of hypopituitarism. Data on skeletal health is limited and on microarchitecture is lacking in SS patients. PURPOSE: We aimed to explore skeletal ... -
Genetic Testing in Hereditary Pituitary Tumors.
(2023-12)Genetic testing is becoming part of mainstream endocrinology. An increasing number of rare and not-so-rare endocrine diseases have an identifiable genetic cause, either at the germline or at the somatic level. Here we ... -
Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.
(2024-02-09)Tumours of the anterior part of the pituitary gland represent just 1% of all childhood (aged <15 years) intracranial neoplasms, yet they can confer high morbidity and little evidence and guidance is in place for their ... -
Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.
(2024-02-09)Pituitary adenomas are rare in children and young people under the age of 19 (hereafter referred to as CYP) but they pose some different diagnostic and management challenges in this age group than in adults. These rare ... -
Tall stature and gigantism in adult patients with acromegaly.
(2024-03-02)OBJECTIVES: Increased height in patients with acromegaly could be a manifestation of growth hormone (GH) excess before epiphysis closure. The aim of this study was to evaluate the relationship between the height of adult ... -
Ward monitoring 4.0: real-time metabolic insights from continuous glucose monitoring into perioperative organ dysfunction.
(2024-03-05)The now-routine clinical deployment of continuous glucose monitoring has demonstrated benefit in real-world settings. We make the case that continuous glucose monitoring can help re-examine, at scale, the role that (stress) ... -
Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.
(Frontiers Media, 2023-12-21)Familial Glucocorticoid Deficiency encompasses a broad spectrum of monogenic recessive disorders that theoretically solely abrogate cortisol biosynthesis. In reality, delineating clear genotype-phenotype correlations in ... -
Primary aldosteronism: molecular medicine meets public health.
(Nature Research, 2023-08-23)Primary aldosteronism is the most common single cause of hypertension and is potentially curable when only one adrenal gland is the culprit. The importance of primary aldosteronism to public health derives from its high ... -
Laparoscopic adrenalectomy for phaeochromocytoma in the context of acute coronary syndrome
(Bioscientifica, 2023-11)