Browsing Centre for Endocrinology by Subject "Humans"
Now showing items 1-20 of 50
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Aggressive pituitary tumours and carcinomas, characteristics and management of 171 patients.
(2022-10-01)OBJECTIVE: To describe clinical and pathological characteristics and treatment outcomes in a large cohort of aggressive pituitary tumours (APT)/pituitary carcinomas (PC). DESIGN: Electronic survey August 2020-May 2021. ... -
AIP and the somatostatin system in pituitary tumours.
(2017-12)Classic somatostatin analogues aimed at somatostatin receptor type 2, such as octreotide and lanreotide, represent the mainstay of medical treatment for acromegaly. These agents have the potential to decrease hormone ... -
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 ... -
Cantú syndrome with coexisting familial pituitary adenoma.
(2018-03)CONTEXT: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations ... -
Characterisation of myocardial structure and function in adult-onset growth hormone deficiency using cardiac magnetic resonance.
(2016-12)Growth hormone (GH) can profoundly influence cardiac function. While GH excess causes well-defined cardiac pathology, fewer data are available regarding the more subtle cardiac changes seen in GH deficiency (GHD). This ... -
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. ... -
The clinical outcomes of imaging modalities for surgical management Cushing's disease - A systematic review and meta-analysis.
(2022)INTRODUCTION: Cushing's disease presents major diagnostic and management challenges. Although numerous preoperative and intraoperative imaging modalities have been deployed, it is unclear whether these investigations have ... -
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.
(2018-02-01)Context: Self-limited delayed puberty (DP) is often associated with a delay in physical maturation, but although highly heritable the causal genetic factors remain elusive. Genome-wide association studies of the timing of ... -
Diagnosis and management of hypertension in patients with Cushing's syndrome: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension.
(2022-11-01)Endogenous/exogenous Cushing's syndrome is characterized by a cluster of systemic manifestations of hypercortisolism, which cause increased cardiovascular risk. Its biological basis is glucocorticoid excess, acting on ... -
Effects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review.
(2024-02-26)Central precocious puberty (CPP) is the premature activation of the hypothalamus-pituitary-gonadal axis, resulting in the early development of secondary sexual characteristics. CPP classically occurs before the age of 8 ... -
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 ... -
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.
(2017-11-01)Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, ... -
From pituitary adenoma to pituitary neuroendocrine tumor (PitNET): an International Pituitary Pathology Club proposal.
(2017-04)The classification of neoplasms of adenohypophysial cells is misleading because of the simplistic distinction between adenoma and carcinoma, based solely on metastatic spread and the poor reproducibility and predictive ... -
The genetic background of acromegaly.
(2017-02)Acromegaly is caused by a somatotropinoma in the vast majority of the cases. These are monoclonal tumors that can occur sporadically or rarely in a familial setting. In the last few years, novel familial syndromes have ... -
The Genetic Basis of Delayed Puberty.
(2018)The genetic control of puberty remains an important but mostly unanswered question. Late pubertal timing affects over 2% of adolescents and is associated with adverse health outcomes including short stature, reduced bone ... -
Genetic regulation in pubertal delay.
(2019-10)Delayed puberty represents the clinical presentation of a final common pathway for many different pathological mechanisms. In the majority of patients presenting with significantly delayed puberty, there is a clear family ... -
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 ... -
Genetics of Pituitary Tumours.
(Springer Nature Switzerland AG, 2019-10-07)Pituitary tumours are relatively common in the general population. Most often they occur sporadically, with somatic mutations accounting for a significant minority of somatotroph and corticotroph adenomas. Pituitary tumours ... -
Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis.
(2024-01-03)OBJECTIVE: Hypogonadotropic hypogonadism is characterized by inadequate secretion of pituitary gonadotropins, leading to absent, partial, or arrested puberty. In males, classical treatment with testosterone promotes ... -
HEART UK consensus statement on Lipoprotein(a): A call to action.
(2019-12)Lipoprotein(a), Lp(a), is a modified atherogenic low-density lipoprotein particle that contains apolipoprotein(a). Its levels are highly heritable and variable in the population. This consensus statement by HEART UK is ...