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J Chycki, A Zajac, M Michalczyk, A Maszczyk and J Langfort

-dependent manner ( 9 ). Endocrine exercise response depends on body mass, fat mass content and subjects’ training status ( 11 ). It implies a possible role of phenotype as a factor modifying AT lipolysis response to hormonal action. In line with such an assumption

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Qiuli Liu, Gang Yuan, Dali Tong, Gaolei Liu, Yuting Yi, Jun Zhang, Yao Zhang, Lin-ang Wang, Luofu Wang, Dianzheng Zhang, Rongrong Chen, Yanfang Guan, Xin Yi, Weihua Lan and Jun Jiang

transforming growth factor-α ( 3 ). Patients with VHL disease exhibit diverse phenotypes. For example, some patients manifest either RCC or Pheo, and some with both. VHL disease is generally classified into two subtypes: Type 1 (without Pheo) and Type 2 (with

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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

stress, resulting in selective tissue degeneration ( 6 ). Given the rarity of this syndrome, literature related to it is confined to case reports/series, which limits comprehensive understanding of its complete spectrum, especially the genotype–phenotype

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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

cortisol and aldosterone. Consequently, the precursors of these hormones accumulate and are shunted in the androgen pathway causing androgen excess. A complete loss of 21-OH function results in salt-wasting (SW) phenotypes, while a minimal residual 21-OH

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Tomas P Griffin, Caroline M Joyce, Sumaya Alkanderi, Liam M Blake, Derek T O'Keeffe, Delia Bogdanet, Md Nahidul Islam, Michael C Dennedy, John E Gillan, John J Morrison, Timothy O'Brien, John A Sayer, Marcia Bell and Paula M O'Shea

Introduction: Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosis and nephrolithiasis. This study aimed to characterize the clinical and biochemical phenotypes of a family with two CYP24A1 missense variants.

Methods: The proband and seven family members underwent detailed clinical and biochemical evaluation. Laboratory measurements included serum calcium, intact parathyroid hormone (iPTH), vitamin D metabolites and urine calcium and creatinine.

Results: The proband presented during the second trimester of a planned pregnancy with flu-like symptoms. Laboratory tests showed elevated adjusted calcium of 3.27 (upper reference limit (URL:2.30) mmol/L), suppressed iPTH (<6ng/L), elevated 25(OH)D (264 (URL:55) nmol/L) and elevated 1,25(OH)D (293 (URL:<280) pmol/L). Ionized calcium was 1.55 (URL:1.28) mmol/L. Sanger sequencing revealed two heterozygous missense variants in the CYP24A1: p.(Arg439Cys), R439C and p.(Trp275Arg), W275R. The proband’s brother and sister had the same genotype. The brother had intermittent hypercalcaemia and hypervitaminosis D. Only the sister had a history of nephrolithiasis. The proband’s daughter and two nephews were heterozygous for the R439C variant. The proband’s mother was heterozygous for the W275R variant and her father was homozygous for the R439C variant. All were normocalcaemic with normal 25(OH)D.

Conclusions: In this family, compound heterozygosity for a known pathogenic mutation R439C, in combination with a novel variant W275R was associated with hypercalcaemia and frequently elevated 25(OH)D:24,25 (OH)2D ratios (>50) and may be associated with a variable phenotype or incomplete penetrance.

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Rui M B Maciel, Cleber P Camacho, Lígia V M Assumpção, Natassia E Bufalo, André L Carvalho, Gisah A de Carvalho, Luciana A Castroneves, Francisco M de Castro Jr, Lucieli Ceolin, Janete M Cerutti, Rossana Corbo, Tânia M B L Ferraz, Carla V Ferreira, M Inez C França, Henrique C R Galvão, Fausto Germano-Neto, Hans Graf, Alexander A L Jorge, Ilda S Kunii, Márcio W Lauria, Vera L G Leal, Susan C Lindsey, Delmar M Lourenço Jr, Léa M Z Maciel, Patrícia K R Magalhães, João R M Martins, M Cecília Martins-Costa, Gláucia M F S Mazeto, Anelise I Impellizzeri, Célia R Nogueira, Edenir I Palmero, Cencita H C N Pessoa, Bibiana Prada, Débora R Siqueira, Maria Sharmila A Sousa, Rodrigo A Toledo, Flávia O F Valente, Fernanda Vaisman, Laura S Ward, Shana S Weber, Rita V Weiss, Ji H Yang, Magnus R Dias-da-Silva, Ana O Hoff, Sergio P A Toledo and Ana L Maia

:79,462 ( 6 ). MEN2A and MEN2B are caused by germline mutations of the RET gene ( 7 , 8 , 9 , 10 , 11 ). The demonstration that RET mutations are associated with the MEN2 phenotype have altered not only the diagnosis but also the treatment of these

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Sheila Leone, Lucia Recinella, Annalisa Chiavaroli, Claudio Ferrante, Giustino Orlando, Michele Vacca, Roberto Salvatori and Luigi Brunetti

mice, exposed to GH early in life ( 31 ). Thus, the effects of a suppressed but consistent GH action may very well have a longevity phenotype distinct from the other two models. Actually, it is well established that aged animals have reduced

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Rong Huang, Jun Zheng, Shengxian Li, Lihua Wang, Tao Tao, Xiangyu Teng, Jing Ma and Wei Liu

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Ingeborg Brønstad, Lars Breivik, Paal Methlie, Anette S B Wolff, Eirik Bratland, Ingrid Nermoen, Kristian Løvås and Eystein S Husebye

hyperplasia (CAH) (1) . The classical forms of CAH are the salt wasting (SW) and simple virilising (SV) phenotypes with adrenocorticotropic hormone-driven excess of androgens leading to ambiguous genitalia in female newborns. The SW phenotype has complete or

Open access

Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud and Marek Niedziela

, achieving a definitive diagnosis is challenging, especially when associated with 46,XY karyotype ( 1 ). Indeed, with the exception of several conditions with well-defined phenotypes that point to a specific underlying genetic cause, i.e. complete androgen