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Luigia Cinque, Angelo Sparaneo, Antonio S Salcuni, Danilo de Martino, Claudia Battista, Francesco Logoluso, Orazio Palumbo, Roberto Cocchi, Evaristo Maiello, Paolo Graziano, Geoffrey N Hendy, David E C Cole, Alfredo Scillitani and Vito Guarnieri

Introduction The multiple endocrine neoplasia type 1 syndrome (MEN1, MIM131100) is primarily characterized by parathyroid, gastro-entero-pancreatic and pituitary tumors ( 1 , 2 ). Less frequently, it is associated with adrenocortical ( 3

Open access

Adrian F Daly, David A Cano, Eva Venegas-Moreno, Patrick Petrossians, Elena Dios, Emilie Castermans, Alvaro Flores-Martínez, Vincent Bours, Albert Beckers and Alfonso Soto-Moreno

) in association with a number of germline genetic mutations. Of these, the aryl hydrocarbon receptor-interacting protein ( AIP ) gene and the MEN1 gene have been widely studied in the clinical setting. Germline MEN1 mutations lead to multiple

Open access

Weixi Wang, Rulai Han, Lei Ye, Jing Xie, Bei Tao, Fukang Sun, Ran Zhuo, Xi Chen, Xiaxing Deng, Cong Ye, Hongyan Zhao and Shu Wang

Introduction Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease characterized by the presence of endocrine tumors mainly affecting parathyroid, pituitary and pancreatic islet. Adrenal lesions occur in 20–55% of MEN1

Open access

K E Lines, R P Vas Nunes, M Frost, C J Yates, M Stevenson and R V Thakker

Introduction Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder, characterised by the combined occurrence of tumours of the parathyroid glands, and neuroendocrine tumours (NETs) of the pancreatic islets and anterior

Open access

Elena Pardi, Stefano Mariotti, Natalia S Pellegata, Katiuscia Benfini, Simona Borsari, Federica Saponaro, Liborio Torregrossa, Antonello Cappai, Chiara Satta, Marco Mastinu, Claudio Marcocci and Filomena Cetani

Introduction Multiple endocrine neoplasia type 1 (MEN1, OMIM #131100) is a rare autosomal dominant endocrine disorder characterized by the occurrence of parathyroid adenoma/hyperplasia, duodeno–pancreatic neuroendocrine tumors (NETs), and anterior

Open access

Ruth Therese Casey, Deborah Saunders, Benjamin George Challis, Deborah Pitfield, Heok Cheow, Ashley Shaw and Helen Lisa Simpson

Introduction Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine neoplasia syndrome characterised by autosomal dominant inheritance of mutations in MENIN , a tumour suppressor gene. Patients with MEN1 typically develop

Open access

Dirk-Jan van Beek, Rachel S van Leeuwaarde, Carolina R C Pieterman, Menno R Vriens, Gerlof D Valk and the DutchMEN Study Group

are scarce or the underlying scientific evidence is meager. Multiple endocrine neoplasia type 1 (MEN1) (OMIM 131100) is an autosomal dominant disease with an estimated occurrence rate of 2–3 per 100,000 ( 2 ). Due to the complexity of the disease

Open access

Elizaveta Mamedova, Natalya Mokrysheva, Evgeny Vasilyev, Vasily Petrov, Ekaterina Pigarova, Sergey Kuznetsov, Nikolay Kuznetsov, Liudmila Rozhinskaya, Galina Melnichenko, Ivan Dedov and Anatoly Tiulpakov

symptoms) (reviewed in 3 ). To date, the following familial syndromes associated with PHPT are known: multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric

Open access

Ferdinand Roelfsema, Diana van Heemst, Ali Iranmanesh, Paul Takahashi, Rebecca Yang and Johannes D Veldhuis

Context

Studies on 24-h cortisol secretion are rare. The impact of sex, age and adiposity on cortisol levels, often restricted to one or a few samples, are well recognized, but conflicting.

Objective

To investigate cortisol dynamics in 143 healthy men and women, spanning 7 decades and with a 2-fold body mass index (BMI) range with different analytic tools.

Setting

Clinical Research Unit.

Design

Cortisol concentrations in 10-min samples collected for 24 h. Outcomes were mean levels, deconvolution parameters, approximate entropy (ApEn, regularity statistic) and 24-h rhythms.

Results

Total 24-h cortisol secretion rates estimated by deconvolution analysis were sex, age and BMI independent. Mean 24-h cortisol concentrations were lower in premenopausal women than those in men of comparable age (176 ± 8.2 vs 217 ± 9.4 nmol/L, P = 0.02), but not in subjects older than 50 years. This was due to lower daytime levels in women, albeit similar in the quiescent overnight period. Aging increased mean cortisol by 10 nmol/L per decade during the quiescent secretory phase and advanced the acrophase of the diurnal rhythm by 24 min/decade. However, total 24-h cortisol secretion rates estimated by deconvolution analysis were sex, age and BMI independent. ApEn of 24-h profiles was higher (more random) in premenopausal women than those in men (1.048 ± 0.025 vs 0.933 ± 0.023, P = 0.001), but not in subjects older than 50 years. ApEn peaked during the daytime.

Conclusion

Sex and age jointly determine the 24-h cortisol secretory profile. Sex effects are largely restricted to age <50 years, whereas age effects elevate concentrations in the late evening and early night and advance the timing of the peak diurnal rhythm.

Open access

Maria Mizamtsidi, Constantinos Nastos, George Mastorakos, Roberto Dina, Ioannis Vassiliou, Maria Gazouli and Fausto Palazzo

with syndromic and hereditary disease, like multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4) and hyperparathyroidism jaw-tumor syndrome (HPT-JS) or the non-syndromic familial form of the disease, the familial isolated primary