Register for the Royal Society of Medicine's webinar series on genetics and endocrinology

The Royal Society of Medicine, in association with the Society for Endocrinology, are holding a three-part webinar series on genetics and endocrinology. This series will take place online on 4-6 May 2021. It will feature experts across both of these fields and provide an overview on a number of topics, including testing for genetic disorders, thyroid disorders, delayed puberty, pituitary tumours and Multiple Endocrine Neoplasia. Find out more and register for all 3 webinars by emailingevents@rsm.ac.uk.
Source: Society for Endocrinology - Category: Endocrinology Source Type: news

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Exp Ther Med. 2022 Jan;23(1):74. doi: 10.3892/etm.2021.10997. Epub 2021 Nov 24.ABSTRACTAggressive prolactinoma (APRL) is a subgroup of aggressive pituitary tumors (accounting for 10% of all hypophyseal neoplasia) which are defined by: invasion based on radiological and/or histological features, a higher proliferation profile when compared to typical adenomas and rapidly developing resistance to standard medication/protocols in addition to an increased risk of early recurrence. This is a narrative review focusing on APRL in terms of both presentation and management. Upon admission, the suggestive features may include increa...
Source: Experimental and Therapeutic Medicine - Category: General Medicine Authors: Source Type: research
ConclusionThe identification of the causative mutation allows genetic and clinical screening of relatives at risk, resulting in earlier diagnosis, a better therapeutic response and ultimately to better long-term outcomes.
Source: Endocrine - Category: Endocrinology Source Type: research
CONCLUSIONS: Germline MAX mutations are associated with PCs, ganglioneuromas, neuroblastomas, pituitary neuroendocrine tumors, and, possibly, parathyroid adenomas, as well as non-endocrine tumors of chondrosarcoma and lung adenocarcinoma, suggesting MAX is a novel multiple endocrine neoplasia gene. PMID: 33367756 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research
Acta Orthop Traumatol Turc. 2020 Sep;54(5):561-564. doi: 10.5152/j.aott.2020.19144.ABSTRACTGrowth hormone secreting pituitary tumor or gigantism has not been previously reported to be associated with rapid progression of scoliosis in the literature. However, there are some reports indicating scoliosis can be worsened by growth hormone therapy in children and adolescents. A 19-year-old boy was referred to our institution for the treatment of a right thoracolumbar scoliosis. The Cobb angle had worsened from 29° to 83° over two years' duration. He attained puberty at the age of 13. He had a previous history of slipped...
Source: Acta Orthopaedica et Traumatologica Turcica - Category: Orthopaedics Authors: Source Type: research
We report a case of a female, born in 1952, diagnosed with a rare Multiple Endocrine Neoplasia type 1 (MEN1) gene variant of uncertain clinical significance (p.Val167Ala) presenting with acromegaly, late-onset primary hyperparathyroidism (PHP) and bilateral adrenal tumors. The diagnosis of acromegaly due to pituitary macroadenoma was confirmed at the age of 45. After a non-radical transsphenoidal resection of the pituitary tumor, with histopathological confirmation of adenoma chromophobe, treatment with long-acting somatostatin analogue was introduced, resulting in successfully normalized both insulin-like growth factor an...
Source: Endokrynologia Polska - Category: Endocrinology Authors: Tags: Endokrynol Pol Source Type: research
ABSTRACTMultiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of parathyroid, pancreatic and pituitary tumors, and is due to mutations in the coding region of theMEN1 gene, which encodes menin. We investigated a family with identical twins that had MEN1, with different MEN1 tumors. DNA sequence analysis of theMEN1 coding region had not identified any abnormalities and we hypothesized that deletions and mutations involving the untranslated regions may be involved. Informed consent and venous blood samples were obtained from five family members. Sanger DNA sequencing and...
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
Abstract Growth hormone secreting pituitary tumor or gigantism has not been previously reported to be associated with rapid progression of scoliosis in the literature. However, there are some reports indicating scoliosis can be worsened by growth hormone therapy in children and adolescents. A 19-year-old boy was referred to our institution for the treatment of a right thoracolumbar scoliosis. The Cobb angle had worsened from 29° to 83° over two years' duration. He attained puberty at the age of 13. He had a previous history of slipped upper femoral epiphysis (SUFE), which was operated in 2015, with no clin...
Source: Acta Orthopaedica et Traumatologica Turcica - Category: Orthopaedics Authors: Tags: Acta Orthop Traumatol Turc Source Type: research
AbstractMultiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of parathyroid, pancreatic and pituitary tumours, and is due to mutations in the coding ‐region of theMEN1 gene, which encodes menin. We investigated a family with identical twins that had MEN1, with different MEN1 tumours. DNA sequence analysis of theMEN1 coding region had not identified any abnormalities and we hypothesised that deletions and mutations involving the untranslated regions may be involved. Informed consent and venous blood samples were obtained from 5 family members. Sanger DNA sequencing a...
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
CONCLUSION: We report rare MEN1 gene mutation which was descibed in a single sporadic patient before. It inherited in at least three generations of a large family, which has proven strong dominant effect on MEN1 phenotype. Further researches may be conducted to clarify potential candidacy of this mutation, as a hotspot for MEN1 patients, especially in Turkish population. PMID: 32897224 [PubMed - as supplied by publisher]
Source: The Turkish Journal of Gastroenterology - Category: Gastroenterology Authors: Tags: Turk J Gastroenterol Source Type: research
Horm Metab Res DOI: 10.1055/a-1143-5930Pituitary adenomas are benign tumors with variable functional characteristics that can have a significant impact on patients. The majority arise sporadically, but an inherited genetic susceptibility is increasingly being recognized. Recent advances in genetics have widened the scope of our understanding of pituitary tumorigenesis. The clinical and genetic characteristics of pituitary adenomas that develop in the setting of germline-mosaic and somatic GNAS mutations (McCune–Albright syndrome and sporadic acromegaly), germline MEN1 mutations (multiple endocrine neoplasia type 1), ...
Source: Hormone and Metabolic Research - Category: Endocrinology Authors: Tags: Review Source Type: research
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