2,453 results match your criteria Multiple Endocrine Neoplasia Type 1


Clinical Features of Multiple Endocrine Neoplasia Type 4 - Novel pathogenic variant and review of published cases.

J Clin Endocrinol Metab 2019 Apr 16. Epub 2019 Apr 16.

Department of Clinical Research, Faculty of Health, University of Southern Denmark (SDU).

Context: The clinical phenotype of multiple endocrine neoplasia type 4 (MEN4) is undefined due to a limited number of published cases. Knowledge on disease manifestation in MEN4 is essential for developing prevention programs and treatment.

Objective: To expand current knowledge of the MEN4 phenotype including assessment of penetrance. Read More

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http://dx.doi.org/10.1210/jc.2019-00082DOI Listing
April 2019
1 Read

Clinical management of difficult to treat macroprolactinomas.

Expert Rev Endocrinol Metab 2019 Mar 22:1-14. Epub 2019 Mar 22.

a Marseille Medical Genetics, Inserm U1251, Hôpital de la Conception, Service d'Endocrinologie , Aix Marseille Univ, APHM , Marseille , France.

Introduction: Prolactinomas represent the most common pituitary adenomas encountered in the clinic. While a majority of these tumors will be successfully treated by dopamine agonist (DA) such as cabergoline, their management becomes problematic since a resistance to DA can occur and/or if the tumor displays features of aggressiveness, two conditions that are closely related. Areas covered: Epidemiology and medical treatment of prolactinomas; resistance to DA and molecular basis of DA-resistance; therapeutical alternatives in case of DA-resistant Prolactinomas and therapies in development; summarizing conclusions. Read More

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http://dx.doi.org/10.1080/17446651.2019.1596024DOI Listing
March 2019
1 Read

Could the Less-Than Subtotal Parathyroidectomy Be an Option for Treating Young Patients With Multiple Endocrine Neoplasia Type 1-Related Hyperparathyroidism?

Front Endocrinol (Lausanne) 2019 7;10:123. Epub 2019 Mar 7.

Endocrine Genetics Unit (LIM-25), Endocrinology Division, Hospital das Clinicas, University of Sao Paulo School of Medicine, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

The surgical treatment of primary hyperparathyroidism (HPT) in patients with multiple endocrine neoplasia type 1 (MEN1) has evolved due the concern of permanent hypoparathyroidism. As the diagnosis has increased, the extent of operation has decreased. Most MEN1 patients requiring parathyroidectomy are younger than 50 years and they pose a difficult balance to achieve between persistent HPT and life-long hypoparathyroidism. Read More

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http://dx.doi.org/10.3389/fendo.2019.00123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417394PMC
March 2019
2 Reads

Patient characteristics and clinical outcomes following initial surgical intervention for MEN1 associated pancreatic neuroendocrine tumours: A systematic review and exploratory meta-analysis of the literature.

Pancreatology 2019 Apr 12;19(3):462-471. Epub 2019 Mar 12.

Department of Surgery, School of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand; HPB Unit, Department of General Surgery, Auckland City Hospital, Auckland, New Zealand. Electronic address:

Background: This systematic review aimed to define the outcomes of different pancreatic resection procedures for multiple endocrine neoplasia type 1 (MEN1) associated pancreatic neuroendocrine neoplasms (pNENs).

Methods: A search of PubMed, MEDLINE and SCOPUS databases were performed in accordance with PRISMA guidelines.

Results: Twenty-seven studies including 533 patients undergoing initial pancreatic resection for MEN1 associated pNENs were included in this systematic review. Read More

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http://dx.doi.org/10.1016/j.pan.2019.03.002DOI Listing
April 2019
1 Read
2.504 Impact Factor

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

Hum Mutat 2019 Mar 14. Epub 2019 Mar 14.

Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France.

In 2015, the ACMG-AMP guidelines provided a general procedure for the objective and reproducible classification of genomic variants. While the benefits of this framework are of major importance, its adaptation for locus-specific use is needed. Multiple Endocrine Neoplasia type 1 (MEN1) occurs due to inactivating mutations in the tumour suppressor gene MEN1, including 20% of missense variants. Read More

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http://dx.doi.org/10.1002/humu.23746DOI Listing
March 2019
2 Reads

Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation.

J Med Biochem 2019 Mar 1;38(1):38-44. Epub 2019 Mar 1.

Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.

Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome characterized by the occurrence of primary hyperparathyroidism (PHPT), pituitary adenoma (PA) and pancreatic neuroendocrine tumor (pNET). Whether the underlying mutations in gene predict clinical presentation of affected heterozygotes or not, is still a matter of a debate.

Methods: Clinical and genetic analysis of 90 consecutive MEN1 patients was performed in a retrospective, single - center study. Read More

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http://dx.doi.org/10.2478/jomb-2018-0013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298455PMC
March 2019
1 Read

Intertumor heterogeneity in 60 pancreatic neuroendocrine tumors associated with multiple endocrine neoplasia type 1.

Orphanet J Rare Dis 2019 02 22;14(1):54. Epub 2019 Feb 22.

Section "Endocrine Surgery", Division of General Surgery, Department of Surgery, Medical University, Währinger Gürtel 18-20, A-1090, Vienna, Austria.

Background: Patients with multiple endocrine neoplasia type 1 (MEN-1) develop multiple pancreatic neuroendocrine neoplasias (PNENs). Size at diagnosis and growth during follow-up are crucial parameters. According to the WHO 2017, grading is another important parameter. Read More

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http://dx.doi.org/10.1186/s13023-019-1034-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387504PMC
February 2019
3 Reads

Metastatic Insulinoma Controlled by Targeted Radionuclide Therapy With 177Lu-DOTATATE in a Patient With Solitary Kidney and MEN-1 Syndrome.

Clin Nucl Med 2019 Feb 15. Epub 2019 Feb 15.

From the Departments of Nuclear Medicine.

A 54-year-old man with multiple endocrine neoplasia type 1 had previous history of parathyroid surgery and left thyroid lobectomy 5 years earlier, and was referred for recurrent hypoglycemic episodes. Ga-DOTATATE PET/CT had showed multiple lesions in the right lung, liver, and pancreas. Biopsy from pancreas revealed low-grade neuroendocrine neoplasia. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002500DOI Listing
February 2019
4 Reads
3.931 Impact Factor

Transluminal washout and debridement of extraluminal contamination as an adjunct to endoscopic defect repair.

VideoGIE 2019 Feb 7;4(2):91-94. Epub 2018 Dec 7.

Division of Gastroenterology and Hepatology, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.

Background And Aims: GI tract perforations and anastomotic dehiscence are increasingly effectively being repaired endoscopically; however, well-known and long-held surgical principles must still be honored. One important principle is that significant extraluminal contamination must be washed out, debrided, and drained in conjunction with repair of the defect if the wound is to effectively heal and resolve. Here we describe the use of endoscopic washout and debridement of extraluminal contamination at the time of luminal defect closure in a 7-patient series at our institution, with video demonstration of 2 patients in the series. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24684481183022
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http://dx.doi.org/10.1016/j.vgie.2018.09.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363716PMC
February 2019
2 Reads

PANCREATIC NEUROENDOCRINE TUMORS: SURGICAL RESECTION.

Arq Bras Cir Dig 2019 Feb 7;32(1):e1428. Epub 2019 Feb 7.

Oncology Service, Nove de Julho University, São Paulo, SP, Brazil.

Introduction: Pancreatic neuroendocrine tumors (pNET) correspond to about 3% of all tumors in pancreas and could be presented as a difficult diagnosis and management.

Objective: To review the diagnosis and treatment of the pNET available in scientific literature.

Method: A bibliographic survey was performed by means of an online survey of MeSH terms in the Pubmed database. Read More

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http://dx.doi.org/10.1590/0102-672020180001e1428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368164PMC
February 2019
2 Reads

Multimodality appearance of multiple endocrine neoplasia type 1: A case report.

Radiol Case Rep 2019 Apr 23;14(4):439-443. Epub 2019 Jan 23.

Advocate Illinois Masonic Medical Center, 836 W Wellington Ave, Chicago, IL 60657, USA.

Multiple endocrine neoplasia type 1 is a rare autosomal dominant disorder classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary, and enteropancreatic endocrine cells. We present the clinical details of a patient with diarrhea, nephrolithiasis, erectile dysfunction, and new onset abdominal pain, as well as a discussion of the etiology, pathophysiology, and classical imaging findings of this condition. Read More

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http://dx.doi.org/10.1016/j.radcr.2019.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352705PMC
April 2019
2 Reads

Adrenocortical carcinoma in patients with MEN1: a kindred report and review of the literature.

Endocr Connect 2019 Mar;8(3):230-238

Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China.

Objective Up to 40% of multiple endocrine neoplasia type 1 (MEN1) patients may have adrenal cortical tumors. However, adrenocortical carcinoma (ACC) is rare. The clinical manifestations, prevalence, inheritance and prognosis of ACC associated with MEN1 remain unclear. Read More

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http://dx.doi.org/10.1530/EC-18-0526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391906PMC
March 2019
2 Reads

Primary Hyperparathyroidism.

Authors:
Laura Masi

Front Horm Res 2019 19;51:1-12. Epub 2018 Nov 19.

The 4 parathyroid glands derive from the third and fourth pharyngeal pouches and descend caudally to the anterior neck. Through the secretion of parathyroid hormone (PTH), the parathyroid glands are primarily responsible for maintaining extracellular calcium and phosphorus concentrations. Hypercalcemia may be distinguished in parathyroid-hypercalcemia and nonparathyroid hypercalcemia. Read More

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https://www.karger.com/Article/FullText/491034
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http://dx.doi.org/10.1159/000491034DOI Listing
November 2018
12 Reads

Pituitary adenomas in patients with multiple endocrine neoplasia type 1: a single-center experience in China.

Pituitary 2019 Apr;22(2):113-123

Department of Endocrinology, Peking Union Medical College Hospital, Beijing, 100730, China.

Purpose: To explore the clinical characteristics of pituitary adenomas in patients with MEN1 and to summarize treatment strategies for MEN1 in a Chinese population.

Methods: We retrospectively analyzed 54 MEN1 patients with pituitary adenomas diagnosed at Peking Union Medical College Hospital from March 2003 to January 2017. Clinical data, laboratory testing results, treatments of involved glands and treatment responses were collected and analyzed. Read More

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http://link.springer.com/10.1007/s11102-019-00939-x
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http://dx.doi.org/10.1007/s11102-019-00939-xDOI Listing
April 2019
23 Reads
2.222 Impact Factor

Three Novel MEN1 Variants in AIP-Negative Familial Isolated Pituitary Adenoma Patients.

Pathobiology 2019 Jan 10:1-7. Epub 2019 Jan 10.

Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

Objectives: Pituitary adenomas (PAs) may rarely occur in well-defined hereditary conditions, like multiple endocrine neoplasia type 1 (MEN1) syndrome and familial isolated pituitary adenoma (FIPA) associated with germline mutations in MEN1 and AIP, respectively. This study aimed to assess MEN1 genetic abnormalities in AIP mutation-negative FIPA patients, not associated with MEN1 components.

Methods: Among 20 patients evaluated in 13 FIPA families, 12 were previously reported as AIP mutation-negative. Read More

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http://dx.doi.org/10.1159/000495252DOI Listing
January 2019
4 Reads

Distinct genome-wide methylation patterns in sporadic and hereditary nonfunctioning pancreatic neuroendocrine tumors.

Cancer 2019 Apr 8;125(8):1247-1257. Epub 2019 Jan 8.

Department of Surgery, Stanford University, Stanford, California.

Background: Aberrant methylation is a known cause of cancer initiation and/or progression. There are scant data on the genome-wide methylation pattern of nonfunctioning pancreatic neuroendocrine tumors (NFPanNETs) and sporadic and hereditary NFPanNETs.

Methods: Thirty-three tissue samples were analyzed: they included samples from sporadic (n = 9), von Hippel-Lindau (VHL)-related (n = 10), and multiple endocrine neoplasia type 1 (MEN1)-related NFPanNETs (n = 10) as well as normal islet cells (n = 4) for comparison. Read More

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http://doi.wiley.com/10.1002/cncr.31930
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http://dx.doi.org/10.1002/cncr.31930DOI Listing
April 2019
13 Reads
4.889 Impact Factor

Concomitant Thyroid Cancer in Patients with Multiple Endocrine Neoplasia Type 1 Undergoing Surgery for Primary Hyperparathyroidism.

Thyroid 2019 Feb;29(2):252-257

2 Department of Surgery, Division of Endocrine Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania.

Background: Compared to those with sporadic primary hyperparathyroidism (SPHP), multiple endocrine neoplasia type 1 (MEN1) patients with primary hyperparathyroidism (MPHP) typically require more extensive dissection and have higher recurrence rates. Little is known about the risk of concomitant thyroid cancer in either setting. This study aimed to determine the rates and characteristics of thyroid cancer for MPHP versus SPHP patients undergoing parathyroidectomy. Read More

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http://dx.doi.org/10.1089/thy.2017.0675DOI Listing
February 2019
3 Reads

Chemoprevention with Somatuline© Delays the Progression of Pancreatic Neuroendocrine Neoplasms in a Mouse Model of Multiple Endocrine Neoplasia Type 1 (MEN1).

World J Surg 2019 Mar;43(3):831-838

Department of Endocrine Surgery, Schön Klinik Hamburg Eilbek, Dehnhaide 120, 22081, Hamburg, Germany.

Objective: Long-acting synthetic somatostatin analogues (SSA) are an essential part of the treatment of neuroendocrine neoplasms. We evaluated the chemopreventive effects of a long-acting somatostatin analogue on the development of pancreatic neuroendocrine neoplasms (pNENs) in a genetically engineered MEN1 knockout mouse model.

Materials And Methods: Heterozygote MEN1 knockout mice were injected every 28 days subcutaneously with the somatostatin analogue lanreotide (Somatuline Autogel©; Ipsen Pharma) or a placebo starting at day 35 after birth. Read More

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http://dx.doi.org/10.1007/s00268-018-4839-8DOI Listing
March 2019
6 Reads

Orthotopic Liver Transplantation for Hereditary Hemorrhagic Telangiectasia and MEN Type I Syndrome - Case Report and Review of Literature.

Chirurgia (Bucur) 2018 Nov-Dec;113(6):837-848

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by arteriovenous malformations (AVMs) mainly affecting the lungs and the liver. In this case AVM's resulted in liver cirrhosis and an indication for orthotopic liver transplantation (OLT). A 59 year-old male patient with HHT who had been previously diagnosed with Multiple Endocrine Neoplasia type 1 Syndrome (MEN 1) was listed for OLT for end-stage liver disease due to hepatic AVMs. Read More

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http://dx.doi.org/10.21614/chirurgia.113.6.837DOI Listing
December 2018
2 Reads

Hyperandrogenism in a child with multiple endocrine neoplasia type 1.

Endocrinol Diabetes Nutr 2019 Feb 24;66(2):132-133. Epub 2018 Dec 24.

Unidad de Endocrinología y Nutrición, Hospital Universitario Virgen del Rocío, Sevilla, España.

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http://dx.doi.org/10.1016/j.endinu.2018.11.002DOI Listing
February 2019
2 Reads

Metastatic Potential and Survival of Duodenal and Pancreatic Tumors in Multiple Endocrine Neoplasia Type 1: A GTE and AFCE Cohort Study (Groupe d'étude des Tumeurs Endocrines and Association Francophone de Chirurgie Endocrinienne).

Ann Surg 2018 Dec 21. Epub 2018 Dec 21.

INSERM, U1231, Epidemiology and Clinical Research in Digestive Cancers Team, Dijon, France.

Objective: To assess the distant metastatic potential of duodeno-pancreatic neuroendocrine tumors (DP-NETs) in patients with MEN1, according to functional status and size.

Summary Background Data: DP-NETs, with their numerous lesions and endocrine secretion-related symptoms, continue to be a medical challenge; unfortunately they can become aggressive tumors associated with distant metastasis, shortening survival. The survival of patients with large nonfunctional DP-NETs is known to be poor, but the overall contribution of DP-NETs to metastatic spread is poorly known. Read More

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http://dx.doi.org/10.1097/SLA.0000000000003162DOI Listing
December 2018
17 Reads

An update on the genetics of benign pituitary adenomas in children and adolescents.

Curr Opin Endocr Metab Res 2018 Aug 24;1:19-24. Epub 2018 Apr 24.

Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA.

Pituitary adenomas in children and adolescents are rare tumors that often result from a tumor predisposition syndrome. Several inherited causes for pituitary adenomas have been identified in the last few years, including multiple endocrine neoplasia type 1 and 4, Carney's complex, Tuberous sclerosis, DICER1 syndrome, neurofibromatosis type 1, McCune Albright syndrome, familial isolated pituitary adenoma, and pituitary adenoma association due to defects in succinate dehydrogenase genes. Recently, our group discovered X-linked acrogigantism (X-LAG), a new pediatric disorder that is caused by an Xq26. Read More

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http://dx.doi.org/10.1016/j.coemr.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289528PMC
August 2018
4 Reads

Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.

J Bone Miner Res 2019 Jan 10;34(1):22-37. Epub 2018 Dec 10.

Calcium Research Laboratory, Metabolic Disorders and Complications Program, Research Institute of the McGill University Health Centre, Montreal, Canada.

We review advancing and overlapping stages for our understanding of the expressions of six hyperparathyroid (HPT) syndromes: multiple endocrine neoplasia type 1 (MEN1) or type 4, multiple endocrine neoplasia type 2A (MEN2A), hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and familial isolated hyperparathyroidism. During stage 1 (1903 to 1967), the introduction of robust measurement of serum calcium was a milestone that uncovered hypercalcemia as the first sign of dysfunction in many HPT subjects, and inheritability was reported in each syndrome. The earliest reports of HPT syndromes were biased toward severe or striking manifestations. Read More

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http://dx.doi.org/10.1002/jbmr.3650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396287PMC
January 2019
5 Reads

Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.

J Endocrinol 2019 Feb;240(2):R21-R45

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.

While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or FIPA) or as part of a syndrome. FIPA is caused, in 15-30% of all kindreds, by inactivating mutations in the AIP gene, encoding a co-chaperone with a vast array of interacting partners and causing most commonly growth hormone excess. While the mechanisms linking AIP with pituitary tumorigenesis have not been fully understood, they are likely to involve several pathways, including the cAMP-dependent protein kinase A pathway via defective G inhibitory protein signalling or altered interaction with phosphodiesterases. Read More

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http://dx.doi.org/10.1530/JOE-18-0446DOI Listing
February 2019
2 Reads

Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome.

Eur J Endocrinol 2019 Feb;180(2):K15-K19

Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1 and can be diagnosed based on clinical, familial and/or genetic criteria. We present a family in which we found both germline and somatic mosaicism for MEN1. Family description In our proband, we diagnosed MEN1. Read More

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https://eje.bioscientifica.com/view/journals/eje/aop/eje-18-
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http://dx.doi.org/10.1530/EJE-18-0778DOI Listing
February 2019
23 Reads

Intraoperative Decision-Making and Technical Aspects of Parathyroidectomy in Young Patients With MEN1 Related Hyperparathyroidism.

Front Endocrinol (Lausanne) 2018 16;9:618. Epub 2018 Oct 16.

Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, United States.

One in 5,000 to 1 in 50,000 births have multiple endocrine neoplasia type 1 (MEN1). MEN1 is a hereditary syndrome clinically defined by the presence of two of the following endocrine tumors in the same patient: parathyroid adenomas, entero-pancreatic endocrine tumors and pituitary tumors. Most commonly, patients with MEN1 manifest primarily with signs and symptoms linked to primary hyperparathyroidism. Read More

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http://dx.doi.org/10.3389/fendo.2018.00618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232704PMC
October 2018
2 Reads

Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients.

Orphanet J Rare Dis 2018 11 14;13(1):205. Epub 2018 Nov 14.

Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.

Background: Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinations, caused by inactivating heterozygote mutations of the MEN1 gene. Disease onset, penetrance, clinical presentation, course and prognosis are all extremely variable, even among individuals bearing the same causative mutation, which doesn't allow prediction of the individual clinical phenotype (based on the specific result of the genetic test), thus compelling all patients and mutation carriers to undergo a common routine general screening program.

Results: We performed an extensive epidemiological, clinical and genetic analysis of the Florentine MEN1 patient database, which includes 145 MEN1 patients and 20 asymptomatic MEN1 carriers, constantly followed up at the Regional Referral Centre for Inherited Endocrine Tumours of the Tuscany Region, during the last three decades. Read More

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http://dx.doi.org/10.1186/s13023-018-0938-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237029PMC
November 2018
3 Reads

High prevalence of chronic kidney disease in patients with multiple endocrine neoplasia type 1 and improved kidney function after parathyroidectomy.

Surgery 2019 Jan 7;165(1):124-128. Epub 2018 Nov 7.

Endocrine Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

Background: Because chronic kidney disease is an important comorbidity associated with primary hyperparathyroidism, we sought to evaluate the prevalence of chronic kidney disease and effects of parathyroidectomy on kidney function in patients with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism.

Methods: We performed a retrospective analysis of 112 patients with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism who had at least 1 operation for primary hyperparathyroidism at 2 tertiary referral centers. The preoperative and postoperative estimated glomerular filtration rates were compared. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00396060183050
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http://dx.doi.org/10.1016/j.surg.2018.04.064DOI Listing
January 2019
11 Reads

Multicentric insulinoma associated with multiple endocrine neoplasia type 1: One case report

Rev Med Inst Mex Seguro Soc 2018 Oct 25;56(3):316-319. Epub 2018 Oct 25.

Background: Pancreatic neuroendocrine tumors may be associated with multiple endocrine neoplasia type 1 (MEN1) in 15-25% of cases, and up to 10% develop insulinomas, which are the most frequent cause of persistent hyperinsulinemic hypoglycemia in adults. The objective is to show a clinical case that presents this association.

Clinical Case: 36-year-old patient with seizures associated with fasting hypoglycemia of 36 mg/dL. Read More

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October 2018
3 Reads

MiR-15a/miR-16-1 expression inversely correlates with cyclin D1 levels in Men1 pituitary NETs.

J Endocrinol 2018 Sep 1. Epub 2018 Sep 1.

R Thakker, University of Oxford, Radcliffe Department of Medicine, Oxford Centre for Diabetes Endocrinology and Metabolism, Oxford, United Kingdom of Great Britain and Northern Ireland.

Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid, pituitary and pancreatic islet tumours, and is due to mutations of the MEN1 gene, which encodes the tumour suppressor protein menin. Menin has multiple roles in genome stability, transcription, cell division and proliferation, but its mechanistic roles in tumourigenesis remain to be fully elucidated. MicroRNAs (miRNA) are non-coding single stranded RNAs that post-transcriptionally regulate gene expression and have been associated with tumour development, although the contribution of miRNAs to MEN1-associated tumourigenesis and their relationship with menin expression are not fully understood. Read More

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http://dx.doi.org/10.1530/JOE-18-0278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347280PMC
September 2018
22 Reads

No evidence of adverse fertility and pregnancy outcomes in patients with unrecognized and untreated multiple endocrine neoplasia type 1.

Clin Endocrinol (Oxf) 2019 Feb 14;90(2):312-319. Epub 2018 Nov 14.

School of Medicine, Department of Diabetes and Endocrinology, Royal Hobart Hospital, University of Tasmania, Hobart, Tasmania.

Objective: Literature concerning the impact of multiple endocrine neoplasia type 1 (MEN 1) on fertility is limited to case reports despite the early onset of endocrinopathies, such as primary hyperparathyroidism and prolactinoma, that may impact fertility. This study describes the impact of unrecognized and untreated MEN 1 on fertility and pregnancy outcomes in a multigenerational cohort of the Tasman 1 MEN 1 kindred.

Methods: All MEN 1 positive (MEN 1 , n = 63) and MEN 1 negative (MEN 1 , n = 75) descendants born between 1825 and 1951 of a common founder. Read More

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http://doi.wiley.com/10.1111/cen.13890
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http://dx.doi.org/10.1111/cen.13890DOI Listing
February 2019
12 Reads

When Parathyroidectomy Should Be Indicated or Postponed in Adolescents With MEN1-Related Primary Hyperparathyroidism.

Front Endocrinol (Lausanne) 2018 5;9:597. Epub 2018 Oct 5.

Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.

Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare inherited endocrine tumor syndrome principally affecting parathyroid glands, neuroendocrine tissues of the gastro-entero-pancreatic and thoracic tracts, and anterior pituitary, caused by germline inactivating mutations of the tumor suppressor gene. Primary hyperparathyroidism (PHPT) is usually the first clinical manifestation of the syndrome, normally manifesting during the third decade of life. Cases of affected children and adolescents have been described by the age of 5. Read More

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https://www.frontiersin.org/article/10.3389/fendo.2018.00597
Publisher Site
http://dx.doi.org/10.3389/fendo.2018.00597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6193525PMC
October 2018
31 Reads

'Quality in, quality out', a stepwise approach to EBM for rare diseases promoted by MEN1.

Endocr Connect 2018 Sep 1. Epub 2018 Sep 1.

G Valk, Endocrine Oncology, University Medical Center Utrecht, Utrecht, Netherlands.

Rare diseases pose specific challenges in the field of medical research to provide physicians with evidence based guidelines derived from studies with sufficient quality. An example of these rare diseases is multiple endocrine neoplasia type 1 (MEN1), which is an autosomal dominant endocrine tumor syndrome with an estimated occurrence rate of 2-3 per 100.000. Read More

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http://dx.doi.org/10.1530/EC-18-0359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215791PMC
September 2018
25 Reads

Gastrinoma of Cystic Duct: A Rare Association With Multiple Endocrine Neoplasia Type 1.

J Clin Med Res 2018 Nov 9;10(11):843-847. Epub 2018 Oct 9.

Department of Internal Medicine and Endocrine Unit, Medical School and Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

Neuroendocrine tumors (NETs) of cystic duct are extremely rare, accounting for less than 2% of NET cases. The association of biliary tree NET and multiple endocrine neoplasm type 1 (MEN1) are even more rare. In this report, we described a case of a 65-year-old woman who was referred to our neuroendocrine outpatient clinic to investigate MEN1 after an incidental diagnosis of gastrinoma. Read More

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http://www.jocmr.org/index.php/JOCMR/article/view/3541
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http://dx.doi.org/10.14740/jocmr3541wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188020PMC
November 2018
20 Reads

Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children.

J Pediatr Surg 2019 Jan 5;54(1):27-32. Epub 2018 Oct 5.

Department of Pediatrics and the Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Background: Congenital Hyperinsulinism (HI) causes severe hypoglycemia in neonates and children. We reviewed our experience with pancreatectomy for the various types of HI.

Methods: From 1998 to 2018, 500 patients with HI underwent pancreatectomy: 246 for focal HI, 202 for diffuse HI, 37 for atypical HI (16 for Localized Islet Nuclear Enlargement [LINE], 21 for Beckwith-Wiedemann Syndrome), and 15 for insulinoma. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2018.10.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339589PMC
January 2019
2 Reads

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

J Clin Endocrinol Metab 2019 Mar;104(3):753-764

Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital La Conception, Marseille, France.

Context: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors.

Objective: The aim of this work was to facilitate interpretation of variants and improve the genetic counseling and medical care of families of patients with MEN1.

Design, Setting, And Patients: The TENGEN network (Oncogenetics Network of Neuroendocrine Tumors) has interpreted and collected all allelic variants and clinical characteristics of the MEN1-positive patients identified through genetic testing performed in the French population from 1997 to 2015. Read More

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http://dx.doi.org/10.1210/jc.2018-01170DOI Listing
March 2019
5 Reads

Perioperative Hypotensive Crisis in an Adolescent with a Pancreatic VIPoma and MEN1-Gene Variant.

Horm Res Paediatr 2018 Oct 16:1-5. Epub 2018 Oct 16.

Division of Endocrinology, Department of Pediatrics, British Columbia Children's Hospital and The University of British Columbia, Vancouver, British Columbia, Canada.

Background: Vasoactive intestinal peptide-secreting tumours (VIPomas) lead to high-volume secretory diarrhoea with hypokalaemia, as well as hyperglycaemia and hypercalcaemia. Diagnosis is often delayed.

Case Description: We present a 13-year-old girl with a distal pancreatic VIPoma diagnosed on her second hospital presentation who became severely hypotensive on anaesthetic induction prior to tumour removal, likely due to the vasodilatory effect of supraphysiological VIP levels. Read More

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https://www.karger.com/Article/FullText/493396
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http://dx.doi.org/10.1159/000493396DOI Listing
October 2018
29 Reads

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Eur J Endocrinol 2018 12;179(6):391-407

Unidade de Endocrinologia Genetica UEG, Laboratorio de Endocrinologia Celular e Molecular LIM-25, Disciplina de Endocrinologia.

Background Loss-of-function germline MEN1 gene mutations account for 75-95% of patients with multiple endocrine neoplasia type 1 (MEN1). It has been postulated that mutations in non-coding regions of MEN1 might occur in some of the remaining patients; however, this hypothesis has not yet been fully investigated. Objective To sequence for the entire MEN1 including promoter, exons and introns in a large MEN1 cohort and determine the mutation profile. Read More

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https://eje.bioscientifica.com/view/journals/eje/aop/eje-18-
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http://dx.doi.org/10.1530/EJE-18-0430DOI Listing
December 2018
20 Reads
4.069 Impact Factor

Total and Subtotal Parathyroidectomy in Young Patients With Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism: Potential Post-surgical Benefits and Complications.

Front Endocrinol (Lausanne) 2018 24;9:558. Epub 2018 Sep 24.

Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.

The choice of surgical treatment for patients with Multiple Endocrine Neoplasia type 1 (MEN1)-related primary hyperparathyroidism (PHPT) remains controversial and it has not been specifically addressed in young patients. This is a retrospective case series study. The study includes the surgical data and the follow-up of 38 patients younger than 30 years of age, all diagnosed with MEN1, collected and followed-up between 1991 and 2017 at the Regional Referral Center for Inherited Endocrine Tumors of the Tuscany Region, and operated by parathyroidectomy. Read More

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http://dx.doi.org/10.3389/fendo.2018.00558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6165877PMC
September 2018
3 Reads

Visualization of Macroprolactinoma by F-Fluorocholine PET/CT in a Patient With Multiple Endocrine Neoplasia Type 1.

J Endocr Soc 2018 Oct 13;2(10):1170-1172. Epub 2018 Sep 13.

Department of Nuclear Medicine, Tenon Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1210/js.2018-00193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169461PMC
October 2018
3 Reads

Results of Duodenopancreatic Reoperations in Multiple Endocrine Neoplasia Type 1.

World J Surg 2019 Feb;43(2):552-558

Department of Visceral-, Thoracic- and Vascular Surgery, Philipps University of Marburg, Baldingerstr, 35043, Marburg, Germany.

Background: To evaluate the outcome of duodenopancreatic reoperations in patients with multiple endocrine neoplasia type 1 (MEN1).

Methods: MEN1 patients who underwent reoperations for duodenopancreatic neuroendocrine neoplasms (dpNENs) were retrieved from a prospective database and retrospectively analyzed.

Results: Twelve of 101 MEN1 patients underwent up to three reoperations, resulting in a total of 18 reoperations for dpNEN recurrence. Read More

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http://link.springer.com/10.1007/s00268-018-4809-1
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http://dx.doi.org/10.1007/s00268-018-4809-1DOI Listing
February 2019
25 Reads

Reduced menin expression impairs rapamycin effects as evidenced by an increase in mTORC2 signaling and cell migration.

Cell Commun Signal 2018 10 1;16(1):64. Epub 2018 Oct 1.

Department of medical sciences, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Background: Mammalian target of rapamycin (mTOR) is a master regulator of various cellular responses by forming two functional complexes, mTORC1 and mTORC2. mTOR signaling is frequently dysregulated in pancreatic neuroendocrine tumors (PNETs). mTOR inhibitors have been used in attempts to treat these lesions, and prolonged progression free survival has been recorded. Read More

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https://biosignaling.biomedcentral.com/articles/10.1186/s129
Publisher Site
http://dx.doi.org/10.1186/s12964-018-0278-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167842PMC
October 2018
34 Reads

Is endoscopic ultrasonography more sensitive than magnetic resonance imaging in detecting and localizing pancreatic neuroendocrine tumors?

Rev Endocr Metab Disord 2018 06;19(2):133-137

Centre for Endocrinology, Diabetology & Osteology, Endocrine Laboratory, Philipp's University and University Hospital Marburg, Marburg, Germany.

To compare endoscopic ultrasonography (EUS) and magnetic resonance imaging (MRI) in terms of their sensitivities to localize pancreatic neuroendocrine tumors (pNET) preoperatively. Systematic analysis of the literature; sensitivity of EUS and MRI in insulinomas and pancreaticoduodenal NETs in multiple endocrine neoplasia type 1 (MEN1) in series of at least 20 subjects referring to tumors confirmed by surgery and histopathology. Other imaging methods reported were also assessed. Read More

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http://link.springer.com/10.1007/s11154-018-9464-1
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http://dx.doi.org/10.1007/s11154-018-9464-1DOI Listing
June 2018
15 Reads

Multiple Endocrine Neoplasia Type 1: A Case Report With Review of Imaging Findings.

Ochsner J 2018 ;18(2):170-175

Department of Radiology, Ochsner Clinic Foundation, New Orleans, LA.

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare, autosomal dominant inherited syndrome caused by mutations in the MEN1 tumor suppressor gene. The diagnosis is defined clinically by the presence of 2 or more primary MEN1 tumors (parathyroid, anterior pituitary, and pancreatic islet). We describe the case of a patient who presented with classic history and imaging findings for MEN1. Read More

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http://dx.doi.org/10.31486/toj.17.0019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135292PMC
January 2018
6 Reads

The Importance of an Early and Accurate MEN1 Diagnosis.

Front Endocrinol (Lausanne) 2018 11;9:533. Epub 2018 Sep 11.

Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, Netherlands.

Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant inherited condition, causing significant morbidity, and a reduction of life expectancy. A timely and accurate diagnosis of MEN1 is paramount to improve disease outcomes. This enables early identification of tumor manifestations allowing timely treatment for reducing morbidity and improving survival. Read More

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https://www.frontiersin.org/article/10.3389/fendo.2018.00533
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http://dx.doi.org/10.3389/fendo.2018.00533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141626PMC
September 2018
23 Reads

MiR-24-3p regulates cell proliferation and milk protein synthesis of mammary epithelial cells through menin in dairy cows.

J Cell Physiol 2019 Feb 17;234(2):1522-1533. Epub 2018 Sep 17.

Shandong Key Laboratory of Animal Bioengineering and Disease Prevention, College of Animal Science and Technology, Shandong Agricultural University, Tai'an, Shandong, China.

MiR-24-3p, a broadly conserved, small, noncoding RNA, is abundantly expressed in mammary tissue. However, its regulatory role in this tissue remains poorly understood. It was predicted that miR-24-3p targets the 3' untranslated region (3'-UTR) of multiple endocrine neoplasia type 1 (MEN1), an important regulatory factor in mammary tissue. Read More

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http://dx.doi.org/10.1002/jcp.27017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282567PMC
February 2019
4 Reads

Menin Deficiency Leads to Depressive-like Behaviors in Mice by Modulating Astrocyte-Mediated Neuroinflammation.

Neuron 2018 Nov 13;100(3):551-563.e7. Epub 2018 Sep 13.

Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, College of Medicine, Xiamen University, Xiamen, Fujian 361102, P.R. China. Electronic address:

Astrocyte dysfunction and inflammation are associated with the pathogenesis of major depressive disorder (MDD). However, the mechanisms underlying these effects remain largely unknown. Here, we found that multiple endocrine neoplasia type 1 (Men1; protein: menin) expression is attenuated in the brain of mice exposed to CUMS (chronic unpredictable mild stress) or lipopolysaccharide. Read More

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http://dx.doi.org/10.1016/j.neuron.2018.08.031DOI Listing
November 2018
7 Reads
15.054 Impact Factor

Diagnosing Nonfunctional Pancreatic NETs in MEN1: The Evidence Base.

J Endocr Soc 2018 Sep 31;2(9):1067-1088. Epub 2018 Jul 31.

Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, Netherlands.

In multiple endocrine neoplasia type 1 (MEN1), nonfunctional pancreatic neuroendocrine tumors (NF-pNETs) are the most frequently diagnosed NETs and a leading cause of MEN1-related death. The high prevalence and malignant potential of NF-pNETs outline the need for an evidence-based screening program, as early diagnosis and timely intervention could reduce morbidity and mortality. Controversies exist regarding the value of several diagnostic tests. Read More

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http://dx.doi.org/10.1210/js.2018-00087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125714PMC
September 2018
3 Reads