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N Bergmann, F Gyntelberg, and J Faber

etiology seems multifactorial, which calls for new areas of prevention and intervention. One potential risk factor for the development of MES is chronic psychosocial stress, in the following referred to as stress. In general it is accepted to divide the

Open access

Henrik Falhammar, Hedi Claahsen-van der Grinten, Nicole Reisch, Jolanta Slowikowska-Hilczer, Anna Nordenström, Robert Roehle, Claire Bouvattier, Baudewijntje P C Kreukels, Birgit Köhler, and on behalf of the dsd-LIFE group

Introduction Disorders of sex development (DSD) are characterized by incongruence of chromosomal, gonadal and genital sex development, and in some conditions, impaired adrenal function. DSD can be divided into three major groups: DSD with

Open access

L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen, and T R P Cole

Introduction Disorders of sex development (DSD) encompass a wide range of conditions with diverse clinical features, pathophysiology and clinical management ( 1 , 2 , 3 ). The recently revised stratified DSD diagnostic pathway consists of

Open access

Mengxue Yang, Bowen Sun, Jianhui Li, Bo Yang, Jie Xu, Xue Zhou, Jie Yu, Xuan Zhang, Qun Zhang, Shan Zhou, and Xiaohua Sun

genetic factors, environmental factors and immune factors ( 7 , 8 ). However, the exact mechanisms underlying the development of GD remain unclear. Segmented filamentous bacteria (SFB) may be effective inducers of Th17 cells in the intestinal mucosal

Open access

Suvanjaa Sivalingam, Marianne Thvilum, Thomas Heiberg Brix, Laszlo Hegedüs, and Frans Brandt

impact of month of birth for the development of GD has only received little attention ( 18 , 19 ). Due to low power, the findings have been inconclusive. In contrast to GD, it has never been investigated whether TNG is influenced by seasonality in month

Open access

Tatiana V Novoselova, Peter J King, Leonardo Guasti, Louise A Metherell, Adrian J L Clark, and Li F Chan

crucial actions of ACTH and/or glucocorticoids during development. Mrap -knockout mouse model We recently reported a Mrap KO ( Mrap − / − ) mouse model created by targeting the first coding exon of Mrap, which led to complete

Open access

Leticia Ribeiro de Oliveira, Carlos Alberto Longui, Guilherme Guaragna-Filho, Jose Luiz Costa, Rafael Lanaro, David Antonio Silva, Maria Izabel Chiamolera, Maricilda Palandi de Mello, Andre Moreno Morcillo, Andrea Trevas Maciel-Guerra, and Gil Guerra Júnior

Objective: Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard for this purpose. The aim of this study was to compare both LC-MS/MS and immunoassay (IA) for androgens before and after human recombinant chorionic gonadotropin (r-hCG) stimulus in children with 46,XY Disorders of Sex Development (DSD).

Methods: Nineteen patients with 46,XY DSD were evaluated; all of them were prepubertal and non gonadectomized. Testosterone, dihydrotestosterone (DHT), dehydroepiandrosterone (DHEA) and androstenedione were measured by IA and LC-MS/MS before and 7 days after rhCG injection. The correlation between IA and LC-MS/MS was analysed by the intraclass correlation coefficient (ICC) and Spearman's rank correlation coefficient (SCC). For concordance analysis the Passing and Bablok (PB) regression and the Bland and Altman (BA) method were used.

Results: Testosterone showed excellent correlation (ICC = 0.960 and SCC = 0.964); DHT showed insignificant and moderate correlations as indicated by ICC (0.222) and SCC (0.631), respectively; DHEA showed moderate correlation (ICC = 0.585 and SCC = 0.716); and androstenedione had poor and moderate correlations in ICC (0.363) and SCC (0.735), respectively. Using the PB method, all hormones showed a linear correlation, but proportional and systematic concordance errors were detected for androstenedione, systematic errors for testosterone and no errors for DHEA and DHT. By the BA method, there was a trend of IA to overestimate testosterone and androstenedione and underestimate DHEA and DHT when compared to LC-MS/MS.

Conclusion: Traditional IA should be replaced by LC-MS/MS for the androgens measurement in prepubertal children whenever is possible.

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

action of GH occurs mainly in the liver, and the hypoglycemic action of IGF1 occurs mainly in muscle (2) . At least in animal models, IGF1 also has an important role in the development of β-cell mass (3, 4, 5) . Genetic forms of GH resistance or GH

Open access

Yang Lv, Ning Pu, Wei-lin Mao, Wen-qi Chen, Huan-yu Wang, Xu Han, Yuan Ji, Lei Zhang, Da-yong Jin, Wen-Hui Lou, and Xue-feng Xu

Aim

We aim to investigate the clinical characteristics of the rectal NECs and the prognosis-related factors and construct a nomogram for prognosis prediction.

Methods

The data of 41 patients and 1028 patients with rectal NEC were retrieved respectively from our institution and SEER database. OS or PFS was defined as the major study outcome. Variables were compared by chi-square test and t-test when appropriate. Kaplan–Meier analysis with log-rank test was used for survival analysis and the Cox regression analysis was applied. The nomogram integrating risk factors for predicting OS was constructed by R to achieve superior discriminatory ability. Predictive utility of the nomogram was determined by concordance index (C-index) and calibration curve.

Results

In the univariate and multivariate analyses, tumor differentiation, N stage, M stage and resection of primary site were identified as independent prognostic indicators. The linear regression relationship was found between the value of Ki-67 index and the duration of OS (P < 0.05). Furthermore, the independent prognostic factors were added to formulate prognostic nomogram. The constructed nomogram showed good performance according to the C-index.

Conclusions

Contrary to WHO classification guideline, we found that the rectal NEC diseases are heterogeneous and should be divided as different categories according to the pathological differentiation. Besides, the nomogram formulated in this study showed excellent discriminative capability to predict OS for those patients. More advanced predictive model for this disease is required to assist risk stratification via the formulated nomogram.

Open access

Kennett Sprogøe, Eva Mortensen, David B Karpf, and Jonathan A Leff

GH infusion have demonstrated that continuous exposure to unmodified GH is a safe and effective alternative to daily injections ( 14 , 15 , 16 ). Thus, to ameliorate injection fatigue and improve outcomes, development of long-acting formulations has