Search Results
Search for other papers by Louise Vølund Larsen in
Google Scholar
PubMed
Search for other papers by Delphine Mirebeau-Prunier in
Google Scholar
PubMed
Search for other papers by Tsuneo Imai in
Google Scholar
PubMed
Search for other papers by Cristina Alvarez-Escola in
Google Scholar
PubMed
Search for other papers by Kornelia Hasse-Lazar in
Google Scholar
PubMed
Search for other papers by Simona Censi in
Google Scholar
PubMed
Search for other papers by Luciana A Castroneves in
Google Scholar
PubMed
Search for other papers by Akihiro Sakurai in
Google Scholar
PubMed
Search for other papers by Minoru Kihara in
Google Scholar
PubMed
Search for other papers by Kiyomi Horiuchi in
Google Scholar
PubMed
Réseau TenGen, Marseille, France
Search for other papers by Véronique Dorine Barbu in
Google Scholar
PubMed
Fédération d’Endocrinologie, Hospices Civils de Lyon, Université Lyon 1, France
Search for other papers by Francoise Borson-Chazot in
Google Scholar
PubMed
Service de Génétique, AP-HP, Hôpital européen Georges Pompidou, Paris, France
Université de Paris, PARCC, INSERM, Paris, France
Search for other papers by Anne-Paule Gimenez-Roqueplo in
Google Scholar
PubMed
Laboratoire de Biochimie et Oncologie Moléculaire, CHU Lille, Lille, France
Search for other papers by Pascal Pigny in
Google Scholar
PubMed
Laboratoire de Génétique Moléculaire, CHU Lyon, Lyon, France
Search for other papers by Stephane Pinson in
Google Scholar
PubMed
Search for other papers by Nelson Wohllk in
Google Scholar
PubMed
Search for other papers by Charis Eng in
Google Scholar
PubMed
Search for other papers by Berna Imge Aydogan in
Google Scholar
PubMed
Search for other papers by Dhananjaya Saranath in
Google Scholar
PubMed
Search for other papers by Sarka Dvorakova in
Google Scholar
PubMed
Department of Endocrinology, Assistance Publique-Hôpitaux de Marseille (AP-HM), Hôpital de la Conception, Centre de Référence des Maladies Rares de l’hypophyse HYPO, Marseille, France
Search for other papers by Frederic Castinetti in
Google Scholar
PubMed
Search for other papers by Attila Patocs in
Google Scholar
PubMed
Search for other papers by Damijan Bergant in
Google Scholar
PubMed
Search for other papers by Thera P Links in
Google Scholar
PubMed
Search for other papers by Mariola Peczkowska in
Google Scholar
PubMed
Search for other papers by Ana O Hoff in
Google Scholar
PubMed
Search for other papers by Caterina Mian in
Google Scholar
PubMed
Search for other papers by Trisha Dwight in
Google Scholar
PubMed
Search for other papers by Barbara Jarzab in
Google Scholar
PubMed
Search for other papers by Hartmut P H Neumann in
Google Scholar
PubMed
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
Search for other papers by Mercedes Robledo in
Google Scholar
PubMed
Search for other papers by Shinya Uchino in
Google Scholar
PubMed
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital La Conception, Marseille, France
Search for other papers by Anne Barlier in
Google Scholar
PubMed
Search for other papers by Christian Godballe in
Google Scholar
PubMed
Department of Clinical Research, University of Southern Denmark, Odense, Denmark
Search for other papers by Jes Sloth Mathiesen in
Google Scholar
PubMed
Objective
Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases.
Design and methods
An international retrospective multicenter study of 1085 MEN 2A index cases. Experts from MEN 2 centers all over the world were invited to participate. A total of 19 centers in 17 different countries provided registry data of index cases followed from 1974 to 2017.
Results
Ten cases presented with PHPT as their first manifestation of MEN 2A, yielding a prevalence of 0.9% (95% CI: 0.4–1.6). 9/10 cases were diagnosed with medullary thyroid carcinoma (MTC) in relation to parathyroid surgery and 1/10 was diagnosed 15 years after parathyroid surgery. 7/9 cases with full TNM data were node-positive at MTC diagnosis.
Conclusions
Our data suggest that the prevalence of MEN 2A index cases that present with PHPT as their first manifestation is very low. The majority of index cases presenting with PHPT as first manifestation have synchronous MTC and are often node-positive. Thus, our observations suggest that not performing RET mutation analysis in patients with apparently sporadic PHPT would result in an extremely low false-negative rate, if no other MEN 2A component, specifically MTC, are found during work-up or resection of PHPT.
Search for other papers by Magdaléna Fořtová in
Google Scholar
PubMed
Search for other papers by Lenka Hanousková in
Google Scholar
PubMed
Search for other papers by Martin Valkus in
Google Scholar
PubMed
Search for other papers by Jana Čepová in
Google Scholar
PubMed
Search for other papers by Richard Průša in
Google Scholar
PubMed
Search for other papers by Karel Kotaška in
Google Scholar
PubMed
Background
Fibroblast growth factor 23 (FGF23) is a key regulator of urine phosphate excretion. The aim of the study was to investigate the perioperative (intraoperative and postoperative) changes of plasma intact and C-terminal FGF23 (iFGF23, cFGF23) concentrations in patients with primary hyperparathyroidism (pHPT) submitted to surgery.
Materials and methods
The study involved 38 adult patients with pHPT caused by adenoma. Parathyroid hormone (PTH) levels were investigated intraoperatively (just before the incision and 10 min after adenoma excision). cFGF23, iFGF23, phosphate, estimated glomerular filtration rate (eGFR), and procollagen type 1 N-terminal propetide (P1NP) were measured intraoperatively and postoperatively (next day after the surgery).
Results
PTH levels decreased intraoperatively (13.10 pmol/L vs 4.17 pmol/L, P< 0.0001). FGF23 levels measured intraoperatively were at the upper level of reference interval. cFGF23 decreased postoperatively compared with the values measured just before the incision (cFGF23: 89.17 RU/mL vs 22.23 RU/mL, P< 0.0001). iFGF23 decreased as well, but the postoperative values were low. Postoperative inorganic phosphate values increased (1.03 mmol/L vs 0.8 mmol/L, P= 0.0025). We proved significant negative correlation of perioperative FGF23 with inorganic phosphate (cFGF23: Spearman’s r = −0.253, P= 0.0065; iFGF23: Spearman’s r = −0.245, P= 0.0085). We also found that FGF23 values just before incision correlated with eGFR (cystatin C) (cFGF23: Spearman’s r = −0.499, P= 0.0014; iFGF23: Spearman’s r = −0.413, P= 0.01).
Conclusion
Intraoperative iFGF23 and cFGF23 did not change despite PTH decreased significantly. cFGF23 and iFGF23 significantly decreased 1 day after parathyroidectomy and are associated with increase of inorganic phosphate in pHPT patients. cFGF23 and iFGF23 just before incision correlated with eGFR (cystatin C). Similar results found in both iFGF23 and cFGF23 suggest that each could substitute the other.
Search for other papers by Hélène Singeisen in
Google Scholar
PubMed
Search for other papers by Mariko Melanie Renzulli in
Google Scholar
PubMed
Search for other papers by Vojtech Pavlicek in
Google Scholar
PubMed
Search for other papers by Pascal Probst in
Google Scholar
PubMed
Search for other papers by Fabian Hauswirth in
Google Scholar
PubMed
Search for other papers by Markus K Muller in
Google Scholar
PubMed
Search for other papers by Magdalene Adamczyk in
Google Scholar
PubMed
Search for other papers by Achim Weber in
Google Scholar
PubMed
Search for other papers by Reto Martin Kaderli in
Google Scholar
PubMed
Search for other papers by Pietro Renzulli in
Google Scholar
PubMed
Objective
Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is less than one per million. The aim of this study was to define the disease characteristics.
Methods
A systematic review was performed according to the PRISMA 2020 criteria. A literature search from January 2006 to August 2022 was done using MEDLINE® and Web of ScienceTM.
Results
Forty-eight symptomatic patients fulfilled the pre-defined eligibility criteria. Twenty-eight different CDKN1B variants, mostly missense (21/48, 44%) and frameshift mutations (17/48, 35%), were reported. The majority of patients were women (36/48, 75%). Men became symptomatic at a median age of 32.5 years (range 10–68, mean 33.7 ± 23), whereas the same event was recorded for women at a median age of 49.5 years (range 5–76, mean 44.8 ± 19.9) (P = 0.25). The most frequently affected endocrine organ was the parathyroid gland (36/48, 75%; uniglandular disease 31/36, 86%), followed by the pituitary gland (21/48, 44%; hormone-secreting 16/21, 76%), the endocrine pancreas (7/48, 15%), and the thyroid gland (4/48, 8%). Tumors of the adrenal glands and thymus were found in three and two patients, respectively. The presenting first endocrine pathology concerned the parathyroid (27/48, 56%) and the pituitary gland (11/48, 23%). There were one (27/48, 56%), two (13/48, 27%), three (3/48, 6%), or four (5/48, 10%) syn- or metachronously affected endocrine organs in a single patient, respectively.
Conclusion
MEN4 is an extremely rare disease, which most frequently affects women around 50 years of age. Primary hyperparathyroidism as a uniglandular disease is the leading pathology.
