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Zi-Di Xu, Wei Zhang, Min Liu, Huan-Min Wang, Pei-Pei Hui, Xue-Jun Liang, Jie Yan, Yu-Jun Wu, Yan-Mei Sang, Cheng Zhu and Gui-Chen Ni

-pathogenic variations were excluded based on the SNP Database (dsSNP) and the 1000 Genome Database, and the Online Mendelian Inheritance in Man (OMIM), Human Gene Mutation Database and NCBI database were searched to determine whether the mutation has been reported or

Open access

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

). Here, we report an unusual association of MEN1 gene mutation with PC in two siblings from the same MEN1 family, representing the first reported familial occurrence. Clinical case A 61-year-old male ( Fig. 1A , II-4) was admitted in April 2013 to

Open access

Ghazala Zaidi, Vijayalakshmi Bhatia, Saroj K Sahoo, Aditya Narayan Sarangi, Niharika Bharti, Li Zhang, Liping Yu, Daniel Eriksson, Sophie Bensing, Olle Kämpe, Nisha Bharani, Surendra Kumar Yachha, Anil Bhansali, Alok Sachan, Vandana Jain, Nalini Shah, Rakesh Aggarwal, Amita Aggarwal, Muthuswamy Srinivasan, Sarita Agarwal and Eesh Bhatia

subsequent negative selection of self-reactive T-cells ( 10 ). The AIRE gene consists of 14 exons, with 122 different pathogenic mutations being described in patients with APS1 (Human Gene Mutation Database; http://www.hgmd.cf.uk/ , accessed December 2

Open access

Nicola Tufton, Lucy Shapiro, Anju Sahdev, Ajith V Kumar, Lee Martin, William M Drake, Scott A Akker and Helen L Storr

the identification of an SDHB gene mutation in a family member. Five paediatric index patients presented before genetic testing was routinely available. The genetic status of these individuals was identified at a later date, usually after the

Open access

Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike and the AQUAPE CAH Study Group

Hermus AR Sistermans EA. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands: six novel mutations and a specific cluster of four mutations . Journal of Clinical Endocrinology and Metabolism 2003 88 3852

Open access

Paula Bruna Araujo, Leandro Kasuki, Carlos Henrique de Azeredo Lima, Liana Ogino, Aline H S Camacho, Leila Chimelli, Márta Korbonits and Monica R Gadelha

hydrocarbon receptor-interacting protein ( AIP ) gene mutations ( AIPmut ) were first described by Vierimaa and coworkers in 2006 ( 3 ). This study has found AIPmut in seemingly sporadic acromegaly patients and in familial isolated pituitary adenomas (FIPA

Open access

Bruno Donadille, Muriel Houang, Irène Netchine, Jean-Pierre Siffroi and Sophie Christin-Maitre

Introduction Human 3beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations (ORPHA90791) ( 1 ). Sixty-one unrelated families have been published since

Open access

Taísa A R Vicente, Ívina E S Rocha, Roberto Salvatori, Carla R P Oliveira, Rossana M C Pereira, Anita H O Souza, Viviane C Campos, Elenilde G Santos, Rachel D C Araújo Diniz, Eugênia H O Valença, Carlos C Epitácio-Pereira, Mario C P Oliveira, Andrea Mari and Manuel H Aguiar-Oliveira

Objectives

Adult subjects with untreated, lifetime, isolated GH deficiency (IGHD) due to a homozygous GHRH receptor gene mutation (MUT/MUT) residing in Itabaianinha, Brazil, present with lower BMI, higher prevalence of impaired glucose tolerance (IGT), increased insulin sensitivity (IS), and reduced β-cell function (βCF) when compared with non-BMI-matched homozygous normal controls. However, the prevalence of diabetes mellitus (DM) in this cohort is unknown. Comparing their IS and βCF with BMI-matched individuals heterozygous for the same mutation (MUT/N) may be useful to elucidate the role of the GH–IGF1 axis in IS and βCF. The purposes of this work were to verify the prevalence of IGT and DM in adult MUT/MUT subjects from this kindred and to compare IS and βCF in MUT/MUT and MUT/N.

Design

Cross-sectional study.

Methods

We studied most (51) of the living IGHD adults of this kindred who are GH naive. The oral glucose tolerance test (OGTT) could be performed in 34 subjects, fasting glucose was measured in 15, while two had a previous diagnosis of DM. The OGTT results of 24 MUT/MUT subjects were compared with those of 25 BMI-matched MUT/N subjects. IS was assessed by homeostatic model assessment of insulin resistance (HOMA–IR), quantitative IS check index, and oral glucose IS index for 2 and 3 h. βCF was assayed by HOMA-β, insulinogenic index, and the area under the curve of insulin:glucose ratio.

Results

The prevalence of DM and IGT in IGHD was 15.68 and 38.23% respectively. IS was increased and βCF was reduced in MUT/MUT in comparison with MUT/N.

Conclusions

Lifetime, untreated IGHD increases IS, impairs βCF, and does not provide protection from diabetes.

Open access

Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang and Jun Jiang

immunohistochemistry (IHC) in PCC/PGL is strongly correlated with SDH subunit gene mutation. So far, SDH deficiency has been observed in PCC/PGLs, gastrointestinal stromal tumors, pancreatic neuroendocrine tumor, renal carcinoma, pituitary adenoma and pulmonary

Open access

Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar and Nalini Shah

plausible explanation for this phenomenon could be the presence of another mutation in noncoding sequences of second allele of AAAS gene, which remained unidentified with current detection methods or another unknown gene mutation, which affects the