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Clinical Endocrinology

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https://www.readbyqxmd.com/read/28734020/molecular-analysis-of-brazilian-patients-with-combined-pituitary-hormone-deficiency-and-orthotopic-posterior-pituitary-lobe-reveals-eight-different-prop1-alterations-with-three-novel-mutations
#1
Joao L O Madeira, Mirian Y Nishi, Marilena Nakaguma, Anna F Benedetti, Isabela Peixoto Biscotto, Thamiris Fernandes, Thiago Pequeno, Thalita Figueiredo, Marcela M Franca, Fernanda A Correa, Aline P Otto, Milena Abrão, Mirta B Miras, Silvana Santos, Alexander A L Jorge, Everlayny F Costalonga, Berenice B Mendonca, Ivo J P Arnhold, Luciani R Carvalho
BACKGROUND: Mutations in PROP1, HESX1, and LHX3 are associated with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP). OBJECTIVE: To identify mutations in PROP1, HESX1, and LHX3 in a large cohort of patients with CPHD and OPP (35 Brazilian, 2 Argentinian). DESIGN AND METHODS: We studied 23 index patients with CPHD and OPP (6 familial and 17 sporadic) as well as 14 relatives. PROP1 was sequenced by the Sanger method in all except one sporadic case studied using a candidate gene panel...
July 22, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28731586/pregnancy-in-women-with-non-classic-congenital-adrenal-hyperplasia-time-to-conceive-and-outcome
#2
Ori Eyal, Irit Ayalon-Dangur, Anat Segev-Becker, Anita Schachter-Davidov, Shoshana Israel, Naomi Weintrob
OBJECTIVE: Non-classic congenital adrenal hyperplasia (NCAH) is common among Ashkenazi Jews (1:400). It is associated with various degrees of postnatal virilization, irregular menses and infertility. Therapy of symptomatic subjects consists of physiologic doses of glucocorticoids. The objective of this study was to evaluate the effect of glucocorticoid treatment on fertility and on pregnancy outcome in women with NCAH. DESIGN, SETTING AND PATIENTS: This retrospective study included 75 women diagnosed with NCAH who were followed in our clinic and sought fertility between 2008 and 2015...
July 21, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28727231/nulliparity-is-associated-with-subtle-adverse-metabolic-outcomes-in-overweight-obese-mothers-and-their-offspring
#3
Sumudu N Seneviratne, José G B Derraik, Yannan Jiang, Lesley M E McCowan, Silmara Gusso, Janene B Biggs, Graham K Parry, Valentina Chiavaroli, Wayne S Cutfield, Paul L Hofman
BACKGROUND: We aimed to evaluate metabolic outcomes in overweight/obese nulliparous and multiparous women and their offspring. STUDY DESIGN: Seventy-two overweight and obese women who participated in a randomized controlled trial of exercise in pregnancy were included in the study, comparing 18 nulliparous and 54 multiparous women and their singleton offspring. Women were assessed at 19 and 36 weeks of gestation. Fetal growth was measured using standard obstetric ultrasound techniques...
July 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28727165/increased-fibre-and-reduced-trans-fatty-acid-intake-are-primary-predictors-of-metabolic-improvement-in-overweight-polycystic-ovary-syndrome-substudy-of-randomized-trial-between-diet-exercise-and-diet-plus-exercise-for-weight-control
#4
Åsa Nybacka, Per M Hellström, Angelica L Hirschberg
OBJECTIVE: Polycystic ovary syndrome (PCOS) is commonly affected by obesity. PCOS phenotypes are prone to increased waist/hip ratio, insulin resistance and dyslipidaemia. This substudy was undertaken to evaluate the effects of lifestyle interventions on metabolic biomarkers in overweight/obese PCOS women, and the interventional effects of dietary components related to metabolic outcomes. DESIGN: Randomized three-arm parallel study. PATIENTS: Fifty-seven PCOS women (BMI >27kg/m(2) , age 18-40) were randomly assigned to diet (D, n=19), exercise (E, n=19) or diet plus exercise (DE, n=19) in three-arm fashion over 16 weeks...
July 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28727153/month-of-birth-is-associated-with-the-subsequent-diagnosis-of-autoimmune-hypothyroidism-a-nationwide-danish-register-based-study
#5
Marianne Thvilum, Frans Brandt, Thomas Heiberg Brix, Laszlo Hegedüs
BACKGROUND: The triggering of thyroid autoimmunity in the genetically susceptible remains a conundrum. Environmental exposures during gestation and/or early postnatally have proponents, as suggested in diabetes mellitus, with a higher incidence of births during spring and summer. Whether the development of autoimmune hypothyroidism (AIT) is influenced by month or season of birth is less clear. METHOD: Nationwide cohort study of 111,565 individuals diagnosed with AIT and four euthyroid controls per case, matched according to age and sex, were identified from Danish health registers...
July 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28718951/response-to-therapy-of-papillary-thyroid-cancer-of-known-braf-status
#6
Aldona Kowalska, Agnieszka Walczyk, Artur Kowalik, Iwona Pałyga, Danuta Gąsior-Perczak, Tomasz Trybek, Janusz Kopczyński, Maciej Kajor, Estera Mikina, Monika Szymonek, Klaudia Gadawska-Juszczyk, Dorota Szyska-Skrobot, Katarzyna Lizis-Kolus, Stefan Hurej, Magdalena Chrapek, Małgorzata Chłopek, Stanisław Góźdź
CONTEXT: A dynamic risk stratification with modified initial estimated risk based on response to therapy and disease course is one of the crucial changes adopted recently by the American Thyroid Association (ATA). This approach focuses on an individualized risk-adapted approach to the management of differentiated thyroid cancer. The BRAF V600E mutation is the most common genetic alteration in papillary thyroid cancer (PTC). However, the prognostic value of this mutation remains unclear...
July 18, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28718950/radiofrequency-ablation-for-the-management-of-thyroid-nodules-a-critical-appraisal-of-the-literature
#7
REVIEW
Roberto Cesareo, Andrea Palermo, Valerio Pasqualini, Roberto Cianni, Gianluigi Gaspa, Silvia Manfrini, Claudio Maurizio Pacella
The majority of benign thyroid nodules are asymptomatic, remain stable in size, and do not require treatment. However, a minority of patients with growing nodules may have local symptoms or cosmetic concerns, and thus demand surgical therapy. The timely use of ultrasound-guided, minimally invasive thermal therapies has changed the natural history of benign, enlarging thyroid nodules (TNs). These procedures produce persistent shrinkage of TNs and an improvement of local symptoms. Among the various procedures, percutaneous ethanol injection (PEI) represents the first-line treatment for thyroid cysts, while in solid cold nodules, laser and radiofrequency ablation (RFA) have proven to be very effective and safe techniques in producing significant volume reduction that remains stable over several years...
July 18, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28718944/the-effect-of-routine-radiological-reporting-of-thyroid-incidentalomas-on-rates-of-thyroid-needle-biopsy-thyroid-surgery-and-detection-of-thyroid-malignancy
#8
J D Sinnott, R Mortimer, J Smith, E Skelton, K Drinkwater, D Lipscomb, D C Howlett
OBJECTIVE: This study looked at the effect of a changing radiology reporting policy to routinely review the thyroid gland where visible and report on any thyroid lesion, recommending further investigation as appropriate. CONTEXT: Incidentaloma is a term used to describe a lesion found on imaging unrelated to the clinical issue under investigation. There is variability in the radiological reporting of thyroid incidentalomas and conflicting recommendations as to how these lesions should be managed...
July 18, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28708323/the-application-of-serum-iodine-in-assessing-individual-iodine-status
#9
Xing Jin, Peng Jiang, Lixiang Liu, Qingzhen Jia, Peng Liu, Fangang Meng, Xiaoye Zhang, Yunfeng Guan, Yi Pang, Zheng Lu, Hongmei Shen
CONTEXT: The prevalence of thyroid disease in China is on the rise and this could be partly associated with excessive iodine intake in some individuals; therefore, increased attention is being paid to individual iodine status. However, current indices are not appropriate for evaluating individual iodine status. OBJECTIVE: To evaluate the association between serum iodine and urinary iodine (UI), as well as thyroid diseases and provide an excellent base for future individual iodine status assessment...
July 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28708305/a-novel-variant-of-dhh-in-a-familial-case-of-46-xy-disorder-of-sex-development-insights-from-molecular-dynamics-simulations
#10
Francoise Paris, Delphine Flatters, Sandrine Caburet, Bérangère Legois, Nadège Servant, Hervé Lefebvre, Charles Sultan, Reiner A Veitia
OBJECTIVE: Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sisters from a consanguineous family. DESIGN: We performed a whole-exome sequencing of two 46,XY female individuals. Sanger sequencing was used to validate the most likely candidate variant, affecting the desert hedgehog (DHH) gene...
July 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28699175/long-term-health-outcomes-of-adults-with-mccune-albright-syndrome
#11
S C Wong, M Zacharin
CONTEXT: McCune Albright Syndrome (MAS) is associated with numerous health problems. Comprehensive long term health problems of adults with MAS are less well defined in the literature. OBJECTIVE: Our objective is to report comprehensive health outcomes of adults with MAS (> 18 years). DESIGN: Retrospective case note review of 16 adults with MAS managed by one clinician. Results expressed as median (range) RESULTS: The study included 16 adults (7 males) with MAS...
July 12, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28686293/is-primary-hyperparathyroidism-a-cause-of-endothelial-dysfunction
#12
Sevgi Colak, Berna Imge Aydogan, Asena Gokcay Canpolat, Cansin Tulunay Kaya, Mustafa Sahin, Demet Corapcioglu, Ali Riza Uysal, Rifat Emral
OBJECTIVE: Symptomatic primary hyperparathyroidism (PHPT) is thought to be related to increased cardiovascular morbidity and mortality. In our study, we aimed to investigate endothelial dysfunction and markers of subclinical atherosclerosis in PHPT patients. Also we aimed to demonstrate the effect of vitamin D supplementation on these parameters. MATERIALS AND METHODS: Twenty-nine patients followed by medical treatment (A), 25 preoperative (B) and 23 postoperative patients with PHPT (C), and 26 normocalcemic subjects (D) were included...
July 7, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28681949/age-stratified-thresholds-of-anti-m%C3%A3-llerian-hormone-improve-prediction-of-polycystic-ovary-syndrome-over-a-population-based-threshold
#13
Molly M Quinn, Chia-Ning Kao, Asima K Ahmad, Daniel J Haisenleder, Nanette Santoro, Esther Eisenberg, Richard S Legro, Marcelle I Cedars, Heather G Huddleston
OBJECTIVE: Due to its consistent elevation in polycystic ovary syndrome (PCOS) and correlation with polycystic ovarian morphology (PCOM), anti-Mullerian hormone (AMH) has been proposed as a marker of the syndrome. However, prior studies reporting thresholds of AMH for a PCOS diagnosis have been limited by small sample size, inappropriate controls, and heterogeneous AMH assays. We sought to evaluate the suitability of a standardized AMH assay as a biomarker of PCOS. DESIGN: Cross-sectional study at academic medical centers across the United States...
July 6, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28681942/time-to-glucose-peak-during-an-oral-glucose-tolerance-test-identifies-prediabetes-risk
#14
Stephanie T Chung, Joon Ha, Anthony U Onuzuruike, Kannan Kasturi, Mirella Galvan-De La Cruz, Brianna A Bingham, Rafeal L Baker, Jean N Utumatwishima, Lilian S Mabundo, Madia Ricks, Arthur S Sherman, Anne E Sumner
CONTEXT: Morphological characteristics of the glucose curve during an OGTT (time to peak and shape) may reflect different phenotypes of insulin secretion and action, but their ability to predict diabetes risk is uncertain. OBJECTIVE: To compare the ability of time to glucose peak and curve shape to detect prediabetes and β-cell function. DESIGN AND PARTICIPANTS: In a cross-sectional evaluation using an OGTT, 145 adults without diabetes (age 42±9y (mean±SD), range 24-62y, BMI 29...
July 6, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28666083/maternal-thyroid-function-prepregnancy-obesity-and-gestational-weight-gain-the-generation-r-study-a-prospective-cohort-study
#15
Fernanda M Collares, Tim I M Korevaar, Albert Hofman, Eric A P Steegers, Robin P Peeters, Vincent W V Jaddoe, Romy Gaillard
OBJECTIVE: Maternal prepregnancy obesity and excessive gestational weight gain are associated with pregnancy complications. Thyroid function is related to differences in BMI in adult populations. We examined the associations of maternal thyroid function in early pregnancy with maternal BMI and weight gain during pregnancy. DESIGN AND METHODS: In a population-based prospective cohort study among 5,726 mothers, we measured maternal TSH and FT4 levels at 13.5 weeks of gestation (95% range: 9...
June 30, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28666074/prognostic-implication-of-braf-and-tert-promoter-mutation-combination-in-papillary-thyroid-carcinoma-a-meta-analysis
#16
REVIEW
Huy Gia Vuong, Ahmed M A Altibi, Uyen N P Duong, Lewis Hassell
INTRODUCTION: he use of molecular markers, especially BRAF and TERT promoter mutations, for risk stratification in papillary thyroid carcinoma (PTC) is subject to continuing debate. In this study, we aimed to investigate the clinicopathological implication of each genotype when combining BRAF and TERT promoter mutations in PTCs. METHODS: We searched four electronic databases including PubMed, Scopus, Web of Science and Virtual Health Library for relevant studies...
June 30, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28665508/a-polymorphism-in-the-cyp17a1-gene-influences-the-therapeutic-response-to-steroidogenesis-inhibitors-in-cushing-s-syndrome
#17
Elena Valassi, Anna Aulinas, Camilla Am Glad, Gudmundur Johannsson, Oskar Ragnarsson, Susan M Webb
CONTEXT: Steroidogenesis inhibitors, such as ketoconazole (KTZ) and metyrapone (MTP) are used to lower hypercortisolism in patients with Cushing's syndrome (CS). Cortisol normalization is not reached in all patients taking these medications. OBJECTIVE: To test the hypothesis that variants in genes affecting steroidogenesis contribute to different responses to KTZ and/or MTP in patients with CS. PATIENTS AND METHODS: Fifty-four CS patients [46 women; mean (±SD) age, 39...
June 30, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28664630/cross-sectional-association-of-coffee-and-caffeine-consumption-with-sex-hormone-binding-globulin-in-healthy-non-diabetic-women
#18
Florence Pihan-Le Bars, Gaëlle Gusto, Marie-Christine Boutron-Ruault, Guy Fagherazzi, Fabrice Bonnet
OBJECTIVE: Low sex hormone-binding globulin (SHBG) is a consistent risk factor for type 2 diabetes, particularly in women. Coffee consumption has been associated with a lower risk of type 2 diabetes but its effects on SHBG are less known. DESIGN AND METHODS: This was a cross-sectional study of 2,377 non-diabetic pre- and post-menopausal women from the E3N cohort study whose baseline SHBG was measured. Information on diet (including coffee and caffeine consumption), lifestyle, and medical conditions was collected through questionnaires...
June 29, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28656662/greater-physical-activity-and-higher-androgen-concentrations-are-independently-associated-with-lower-cardiometabolic-risk-in-men
#19
Lauren C Chasland, Matthew W Knuiman, Mark L Divitini, Yi X Chan, David J Handelsman, Louise H Naylor, Daniel J Green, Bu B Yeap
CONTEXT: Male ageing is associated with lower circulating testosterone (T) and increased incidence of cardiovascular disease (CVD). Whether physical activity (PA) interacts with hormones to modify CVD risk is unclear. OBJECTIVE: We assessed whether PA and sex hormone concentrations were independently associated with measures of CVD risk. PARTICIPANTS: 1,649 men. METHODS: Leisure, home, work and total PA were ascertained...
June 28, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28656620/autonomous-cortisol-secretion-in-adrenal-incidentalomas-and-increased-visceral-fat-accumulation-during-follow-up
#20
Serkan Yener, Mustafa Baris, Ahmet Peker, Omer Demir, Basak Ozgen, Mustafa Secil
OBJECTIVE: Autonomous cortisol secretion of adrenal incidentalomas (AIs) is associated with poor cardiovascular outcome. Because centripetal obesity is a cardiovascular risk factor, we aimed to investigate whether autonomous cortisol secretion is associated with increased visceral fat accumulation. DESIGN: Retrospective cohort study. PATIENTS: Patients with AIs who attended for follow-up between January 2014 and December 2016 were evaluated...
June 28, 2017: Clinical Endocrinology
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