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Journal of Pediatric Endocrinology & Metabolism: JPEM

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https://www.readbyqxmd.com/read/27849622/novel-mutations-of-the-srd5a2-and-ar-genes-in-thai-patients-with-46-xy-disorders-of-sex-development
#1
Chupong Ittiwut, Jaturong Pratuangdejkul, Vichit Supornsilchai, Sasipa Muensri, Yodporn Hiranras, Taninee Sahakitrungruang, Suttipong Watcharasindhu, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation cause varying degrees of undervirilized external genitalia in 46, XY disorders of sex development (DSD) with increased testosterone production. The objective of the study was to determine clinical and genetic characteristics of Thai patients with 46, XY DSD...
November 16, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27771625/puberty-genes-environment-and-clinical-issues
#2
Wieland Kiess, Julia Hoppmann, Julia Gesing, Melanie Penke, Antje Körner, Jürgen Kratzsch, Roland Pfaeffle
No abstract text is available yet for this article.
October 24, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27771624/non-androgen-secreting-adrenocortical-carcinoma-in-preadolescence-a-case-report-and-literature-review
#3
Hiroko Narumi, Shunji Hasegawa, Kazuyuki Waki, Ken Fukuda, Yuji Ohnishi, Takuya Ichimura, Yousuke Fujimoto, Shunsaku Katsura, Hiroo Kawano, Eiji Ikeda, Satoshi Okada, Shouichi Ohga
Adrenocortical carcinoma (ACC) is a rare malignancy in childhood. Affected children with ACC mostly present with virilization, but not the pure form of Cushing's syndrome. A 9-year-old Japanese girl was hospitalized, because of the unstable emotions and excessive weight gain. She was diagnosed as having Cushing's syndrome and a left adrenal tumor. The adrenalectomy led to the pathological diagnosis of ACC without metastasis. There was no mutation of PRKACA in the tumor-derived DNA, or p53 in peripheral blood-derived DNA...
October 24, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27760014/vitamin-d-status-in-israeli-pediatric-type-1-diabetes-patients-the-awesome-study-group-experience-and-literature-review
#4
Judith Brody, Orit Pinhas-Hamiel, Zohar Landau, Adi Adar, Tzvy Bistritzer, Marianna Rachmiel
BACKGROUND: The prevalence of both vitamin D (VitD) deficiency and type 1 diabetes mellitus (T1DM) has increased worldwide over the last few decades. The objectives of this study were: (1) to evaluate the prevalence of VitD deficiency and insufficiency among Israeli youth with T1DM and (2) to assess the association between VitD status, seasonality and T1D glycemic control characteristics. METHODS: This was a multi-centered, cross-sectional study. VitD levels were routinely tested during the years 2008-2011 in T1DM patients aged up to 21 years...
October 19, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27754968/a-unique-case-of-shwachman-diamond-syndrome-presenting-with-congenital-hypopituitarism
#5
Nurin Jivani, Carmen Torrado-Jule, Sarah Vaiselbuh, Eleny Romanos-Sirakis
Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27754967/association-of-short-stature-with-life-satisfaction-and-self-rated-health-in-children-and-adolescents-the-caspian-iv-study
#6
Shahrzad Jafari-Adli, Mostafa Qorbani, Ramin Heshmat, Shirin Hasani Ranjbar, Ehsaneh Taheri, Mohammad Esmaeil Motlagh, Mehdi Noorozi, Omid Safari, Gita Shafiee, Fatemeh Rezaei, Saeid Safiri, Roya Kelishadi
BACKGROUND: Data on stature in Iranian children and adolescents at national level are limited. The purpose of this study was to investigate the association of short stature with life satisfaction (LS) and self-rated health (SRH) in children and adolescents. METHODS: Data were obtained from a nationwide survey entitled childhood and adolescence surveillance and prevention of adult non-communicable disease (CASPIAN IV). Participants were 14,880 children and adolescents, aged 6-18 years, who were selected using multistage, cluster sampling method from rural and urban areas of 30 provinces of Iran...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27754966/prevalence-of-medically-treated-children-with-adhd-and-type-1-diabetes-in-germany-analysis-of-two-representative-databases
#7
Thomas M Kapellen, Rebecca Reimann, Wieland Kiess, Karel Kostev
BACKGROUND: The aim of this study was to analyze the prevalence of attention deficit hyperactivity disorder (ADHD) in children and adolescents with type 1 diabetes mellitus (T1DM) in Germany. METHODS: Two different representative German databases - IMS®-Disease Analyzer, a database that includes diagnoses as well as other information, and IMS®-LRx, a database that documents prescriptions - were used to conduct a retrospective analysis. We searched the LRx database for patients who received both insulin and ADHD-specific medication...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27754965/disorders-of-sex-development-in-children-in-kwazulu-natal-durban-south-africa-20-year-experience-in-a-tertiary-centre
#8
Yasmeen Ganie, Colleen Aldous, Yusentha Balakrishna, Rinus Wiersma
BACKGROUND: The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. METHODS: This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. RESULTS: A total of 416 children (15...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27754964/investigation-of-the-inflammatory-biomarkers-of-metabolic-syndrome-in-adolescents
#9
Ummugulsum Can, Muammer Buyukinan, Asuman Guzelant, Ayse Ugur, Adnan Karaibrahimoglu, Sukrıye Yabancıun
BACKGROUND: Metabolic syndrome (MetS) is a chronic and multifactorial syndrome characterized by a low-grade chronic inflammation, and a major risk factor for type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD). In our study, we aimed to investigate the serum levels of high sensitive C-reactive protein (hs-CRP), haptoglobin (Hp), α2-macroglobulin (α2-MG), platelet factor-4 (PF-4), fetuin-A, serum amyloid P (SAP) and α1-acid glycoprotein (AGP) in an adolescent population with MetS...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27740931/association-between-the-triglyceride-to-high-density-lipoprotein-cholesterol-ratio-and-insulin-resistance-in-korean-adolescents-a-nationwide-population-based-study
#10
Jae-Min Park, Jee-Yon Lee, Jae June Dong, Duk-Chul Lee, Yong-Jae Lee
BACKGROUND: Studies have suggested the triglyceride to high-density lipoprotein cholesterol ratio (TG/HDL-C) as a surrogate marker of insulin resistance. However, few studies have examined the association between TG/HDL-C and insulin resistance in the general adolescent population. This study aimed to examine the association between TG/HDL-C and insulin resistance in a nationally representative sample of Korean adolescents. METHODS: A total of 2649 participants aged 12-18 years were selected from the 2007 to 2010 Korean National Health and Nutrition Examination Survey (KNHANES)...
October 14, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27740929/monitoring-treatment-of-central-precocious-puberty-using-basal-luteinizing-hormone-levels-and-practical-considerations-for-dosing-with-a-3-month-leuprolide-acetate-formulation
#11
Peter A Lee, Margaret Luce, Peter Bacher
BACKGROUND: Peak gonadotropin-releasing hormone or agonist (GnRHa) stimulated luteinizing hormone (LH) testing with leuprolide acetate (LA) is commonly used to document suppression during therapy for central precocious puberty (CPP). The objective of the study was to investigate suitability of using basal LH levels to monitor GnRHa treatment and to determine optimal transition from 1-month to 3-month LA formulations via a post hoc analysis of a randomized, open-label, 6-month study. METHODS: A total of 42 children with CPP, pretreated with 7...
October 14, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27718492/efficacy-of-growth-hormone-therapy-in-kearns-sayre-syndrome-the-kigs-experience
#12
Jose Bernardo Quintos, Juanita K Hodax, Bryn A Gonzales-Ellis, Chanika Phornphutkul, Michael P Wajnrajch, Charlotte M Boney
Kearns-Sayre syndrome (KSS) is characterized by external ophthalmoplegia, retinal pigmentation and cardiac conduction defects due to mitochondrial DNA (mtDNA) deletions. Short stature and growth hormone (GH) deficiency have been reported in KSS, but data on GH treatment is limited. We describe the clinical presentation, phenotype evolution, and response to GH in a patient with KSS and report data on eight additional KSS patients from the KIGS database. Our patient with KSS and GH deficiency achieved a final adult height at -0...
October 8, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27718491/a-10-year-experience-using-combined-lipid-lowering-pharmacotherapy-in-children-and-adolescents
#13
María Beatriz Araujo, María Sol Pacce
BACKGROUND: Current pediatric guidelines for heterozygous familial hypercholesterolemia (HeFH) propose pharmacotherapy (PT) with statins from age 8 to 10 years; however, schemes with absorption inhibitors combined with statins, could be started earlier. The aim of the study was to show the 10-year results of a combined treatment protocol. METHODS: Prospective, descriptive and analytical study. Pediatric patients (n=70; mean age at PT initiation 9.3 years [range, 2-17...
October 8, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27658135/ethnicity-and-incidence-of-congenital-hypothyroidism-in-the-capital-of-macedonia
#14
Violeta Anastasovska, Mirjana Kocova
BACKGROUND: Congenital hypothyroidism (CH) is a common and preventable cause of intellectual disability for which early diagnosis is difficult without newborn screening. Genetic and environmental factors, race, ethnicity, sex, and pregnancy outcomes were noted as risk factors. In the study we aimed to determine the incidence of CH among different ethnic groups in the capital of Macedoina - a multiethnic city. METHODS: A 14-year retrospective cohort analysis was performed on 121,507 newborns in the capital of Macedonia, Skopje, screened for whole-blood thyroid-stimulating hormone (TSH), in dry blood spots collected 48-72 h after birth, during the period 2002-2015...
September 22, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27658131/fertility-and-sexual-function-a-gap-in-training-in-pediatric-endocrinology
#15
Leena Nahata, Sonja I Ziniel, Katharine C Garvey, Richard N Yu, Laurie E Cohen
BACKGROUND: Infertility and sexual dysfunction result from many different pediatric conditions and treatments and can profoundly impact quality of life. The American Academy of Pediatrics (AAP) has recommended consulting "fertility specialists" for counseling, but it remains unclear who these specialists are. Our objective was to assess whether pediatric subspecialists who manage hypogonadism and/or genitourinary conditions feel adequately trained to provide fertility and sexual function counseling...
September 22, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27861140/non-alcoholic-fatty-liver-disease-in-children-and-adolescents
#16
Melanie Penke, Wieland Kiess, Tommaso de Giorgis
No abstract text is available yet for this article.
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27852974/growth-curves-for-congenital-adrenal-hyperplasia-from-a-national-retrospective-cohort
#17
Patricia Bretones, Benjamin Riche, Emmanuel Pichot, Michel David, Pascal Roy, Véronique Tardy, Behrouz Kassai, Ségolène Gaillard, Delphine Bernoux, Yves Morel, Pierre Chatelain, Marc Nicolino, Catherine Cornu
BACKGROUND: In congenital adrenal hyperplasia (CAH), adjusting hydrocortisone dose during childhood avoids reduced adult height. However, there are currently no CAH-specific charts to monitor growth during treatment. Our objective was to elaborate growth reference charts and bone maturation data for CAH patients. METHODS: We conducted a retrospective observational cohort study, in 34 French CAH centers. Patients were 496 children born 1970-1991 with genetically proven 21-hydroxylase deficiency...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27849625/cortisol-response-to-adrenocorticotropin-testing-in-non-classical-congenital-adrenal-hyperplasia-nccah
#18
Fotini-Heleni Karachaliou, Maria Kafetzi, Maria Dracopoulou, Elpis Vlachopapadopoulou, Sofia Leka, Aspasia Fotinou, Stefanos Michalacos
BACKGROUND: The adequacy of cortisol response in non-classical congenital adrenal hyperplasia (NCCAH) has not been fully elucidated. The aim was to evaluate cortisol response to adrenocorticotropin (ACTH) stimulation test in children and adolescents with NCCAH and heterozygotes for CYP21A2 gene mutations. METHODS: One hundred and forty-six children and adolescents, mean age 7.9 (0.7-17.5) years with clinical hyperandrogenism, were evaluated retrospectively. Thirty-one subjects had NCCAH, 30 were heterozygotes for CYP21A2 gene mutations, while 85 showed normal response to ACTH test...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27849624/efficacy-of-micellized-vs-fat-soluble-vitamin-d3-supplementation-in-healthy-school-children-from-northern-india
#19
Raman K Marwaha, Vamsi K Yenamandra, Mohammed Asraf Ganie, Gomathy Sethuraman, Vishnubhatla Sreenivas, Lakshmy Ramakrishnan, Sathish K Mathur, Vinod K Sharma, Ambrish Mithal
BACKGROUND: Vitamin D deficiency is a widely recognized public health problem. Efficacy of a recently developed micellized form of vitamin D3 has not been studied. Hence, we undertook this study to compare its efficacy with the conventionally used fat-soluble vitamin D3. METHODS: In this open-labeled nonrandomized pilot study, we recruited 180 healthy children, aged 13-14 years in two groups and supplemented Group A (60 children) with 60,000 IU of fat-soluble vitamin D3/month with milk and Group B (120 children) with 60,000 IU/month of water miscible vitamin D3 under supervision for 6 months...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27849623/successful-transition-to-sulfonylurea-therapy-in-two-iraqi-siblings-with-neonatal-diabetes-mellitus-and-idend-syndrome-due-to-abcc8-mutation
#20
Elif Ozsu, Dinesh Giri, Gulcan Seymen Karabulut, Senthil Senniappan
Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6-9 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (KATP) channels encoded by the genes KCNJ11 and ABCC8 are responsible for the majority of permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channels can be associated with Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
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