RSS 1.0Centre 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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Ectopic acromegaly with tumoral range hyperprolactinemia and apoplexy with a dramatic regression of pituitary hyperplasia
(Frontiers, 2024-10-10)Acromegaly due to ectopic secretion of growth hormone-releasing hormone (GHRH) is a rare disorder. The signs and symptoms of ectopic acromegaly are indistinguishable from acromegaly due to a somatotroph adenoma. A 35-year-old ... -
The Value of Local Therapies in Advanced Adrenocortical Carcinoma.
(2024-02-07)International guidelines recommend local therapies (LTs) such as local thermal ablation (LTA; radiofrequency, microwave, cryoablation), transarterial (chemo)embolisation (TA(C)E), and transarterial radioembolisation (TARE) ... -
The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation.
(Karger Publishers, 2024-10-17)INTRODUCTION: Precocious puberty is defined as the appearance of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Central precocious puberty (CPP) is a rare condition that is diagnosed ... -
Disorders of puberty and neurodevelopment: A shared etiology?
(Wiley, 2024-10-21)The neuroendocrine control of puberty and reproduction is fascinatingly complex, with up- and down-regulation of key reproductive hormones during fetal, infantile, and later childhood periods that determine the correct ... -
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction
(2024-12-01)Postnatal growth failure is often attributed to dysregulated somatotropin action, however marked genetic and phenotypic heterogeneity exist. We report five patients from three families who present with short stature, immune ... -
Parental and healthcare provider attitudes towards the Healthy Child Programme in England: a qualitative analysis.
(2024-08-28)BACKGROUND: The Healthy Child Programme (HCP) in England, delivered by Health Visitors (HV) and Nursery Nurses (NN), aims to assess growth and development in pre-school age children. This qualitative analysis aimed to ... -
N-SREBP2 Provides a Mechanism for Dynamic Control of Cellular Cholesterol Homeostasis.
(2024-07-25)Cholesterol is required to maintain the functional integrity of cellular membrane systems and signalling pathways, but its supply must be closely and dynamically regulated because excess cholesterol is toxic. Sterol ... -
Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement.
(2024-07-12)There are 3 physiological waves of central hypothalamic-pituitary-gonadal (HPG) axis activity over the lifetime. The first occurs during fetal life, the second-termed "mini-puberty"-in the first months after birth, and the ... -
Growth hormone receptor antagonist pegvisomant and its role in the medical therapy of growth hormone excess.
(2024-07)Pegvisomant is a growth-hormone (GH) receptor antagonist that prevents the formation of the active heterotrimer of the dimerised GH receptor and the GH molecule necessary for downstream signal transduction. Over the past ... -
Graves' ophthalmopathy: the clinical and psychosocial outcomes of different medical interventions - a systematic review.
(2024-06-17)BACKGROUND: Graves' ophthalmopathy is a complex autoimmune disorder that can significantly affect quality of life (QoL), vision and physical appearance. Recently, a deeper understanding of the underlying pathogenesis has ... -
Combined gonadotropin therapy to replace mini-puberty in male infants with congenital hypogonadotropic hypogonadism.
(2024-07)Infants born with severe central disorders of the hypothalamic-pituitary-gonadal axis leading to gonadotropin deficiency not only lack pubertal development in adolescence, but also lack infantile mini-puberty. This period ... -
Approach to the Patient With Suspected Silver-Russell Syndrome.
(2024-09-16)Silver-Russell syndrome (SRS) is a clinical diagnosis requiring the fulfillment of ≥ 4/6 Netchine-Harbison Clinical Scoring System (NH-CSS) criteria. A score of ≥ 4/6 NH-CSS (or ≥ 3/6 with strong clinical suspicion) warrants ... -
A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases.
(2024-08)GNAS variants were recently described in 1% of patients not known to have pseudohypoparathyroidism/inactivating PTH/PTHrP signalling disorder 2 in the UK Genetics of Obesity Study. We describe a new missense GNAS variant, ...
