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Hormone Research in Pædiatrics

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https://www.readbyqxmd.com/read/27902975/timing-of-hormone-withdrawal-in-children-undergoing-131i-whole-body-scans-for-thyroid-cancer
#1
Sophie Turpin, Raymond Lambert, Cheri Deal
BACKGROUND: Little objective pediatric data exist to guide the optimal time needed to achieve thyroid-stimulating hormone (TSH) levels ≥30 μIU/mL prior to performing 131I or 123I whole-body scan (WBS) imaging in children with thyroid cancer in the post-thyroidectomy period or after hormone discontinuation. METHODS: Retrospective study of patients aged 5-19 years who underwent WBS. Patient data collection included type and duration of withdrawal (liothyronine [L-T3], levothyroxine [L-T4], or post-thyroidectomy status without hormonal replacement) and TSH measured prior to WBS (level and timing)...
December 1, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27898423/reflections-on-the-us-guidelines-on-growth-hormone-and-insulin-like-growth-factor-i-treatment-in-children-and-adolescents
#2
Michael B Ranke, Jan M Wit
No abstract text is available yet for this article.
November 30, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27898418/rapid-molecular-genetic-diagnosis-with-next-generation-sequencing-in-46-xy-disorders-of-sex-development-cases-efficiency-and-cost-assessment
#3
Samim Özen, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Ferda Özkınay, Damla Gökşen, Şükran Darcan
BACKGROUND/AIM: The aim of this study was to use targeted next-generation sequencing (TNGS) including all known genes associated with 46,XY disorders of sex development (DSD) for a fast molecular genetic diagnosis. METHODS: Twenty pediatric patients were recruited, and 56 genes related to 46,XY DSD were sequenced using TNGS. The time elapsed between initial appointment and final diagnosis as well as the mean expenditure was determined. RESULTS: A total of 9 (45%) mutations in 4 different genes were identified...
November 30, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27884013/guidelines-for-growth-hormone-and-insulin-like-growth-factor-i-treatment-in-children-and-adolescents-growth-hormone-deficiency-idiopathic-short-stature-and-primary-insulin-like-growth-factor-i-deficiency
#4
Adda Grimberg, Sara A DiVall, Constantin Polychronakos, David B Allen, Laurie E Cohen, Jose Bernardo Quintos, Wilma C Rossi, Chris Feudtner, Mohammad Hassan Murad
BACKGROUND/AIMS: On behalf of the Drug and Therapeutics, and Ethics Committees of the Pediatric Endocrine Society, we sought to update the guidelines published in 2003 on the use of growth hormone (GH). Because idiopathic short stature (ISS) remains a controversial indication, and diagnostic challenges often blur the distinction between ISS, GH deficiency (GHD), and primary IGF-I deficiency (PIGFD), we focused on these three diagnoses, thereby adding recombinant IGF-I therapy to the GH guidelines for the first time...
November 25, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27871080/the-association-between-premature-adrenarche-and-cardiovascular-risk-may-be-greater-than-expected
#5
Nurullah Çelik, Hayrullah Alp, Emine Çamtosun, Esma Alp, Sibel Çelik, Erhan Berk
AIM: The aim of this study was to investigate the cardiovascular risk of children with premature adrenarche (PA). METHODS: A total of 75 children (44 with PA and 31 control subjects) aged 6-10 years were included in the study. Their metabolic, anthropometric, and echocardiographic parameters were recorded and compared. RESULTS: Triglyceride, DHEA-SO4, and 17-hydroxyprogesterone levels were significantly higher in the PA group (p = 0.04, p = 0...
November 22, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27866202/the-evolution-of-thyroid-function-after-presenting-with-hashimoto-thyroiditis-is-different-between-initially-euthyroid-girls-with-and-those-without-turner-syndrome
#6
Malgorzata Wasniewska, Mariacarolina Salerno, Andrea Corrias, Laura Mazzanti, Patrizia Matarazzo, Domenico Corica, Tommaso Aversa, Maria Francesca Messina, Filippo De Luca, Mariella Valenzise
AIM: To prospectively investigate, during a 5-year follow-up, whether the prognosis of thyroid function with Hashimoto thyroiditis (HT) is different in euthyroid girls with Turner syndrome (TS) than in euthyroid girls without TS. DESIGN: In 66 TS girls and 132 non-TS girls with euthyroid HT and similar thyroid functional test results at HT diagnosis, we followed up the evolution of thyroid status over time. RESULTS: At the end of follow-up, the TS girls exhibited higher TSH levels, lower fT4 levels, and lower prevalence rates of both euthyroidism and subclinical hypothyroidism, but higher prevalence rates of both overt hypothyroidism and hyperthyroidism, irrespective of the karyotype...
November 19, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27855412/a-46-xx-ovotesticular-disorder-of-sex-development-likely-caused-by-a-steroidogenic-factor-1-nr5a1-variant
#7
Jonathan M Swartz, Ryan Ciarlo, Michael H Guo, Aser Abrha, Benjamin Weaver, David A Diamond, Yee-Ming Chan, Joel N Hirschhorn
BACKGROUND: A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. METHODS: Whole-exome sequencing was performed on a 46,XX subject with ovotesticular DSD. RESULTS: Exome results identified a heterozygous NR5A1 variant, p...
November 18, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27820935/past-present-and-future-in-the-relationship-between-growth-retardation-and-the-igf-system-excerpts-from-the-cesar-bergada-lecture-given-during-the-slep-2015-annual-meeting
#8
Héctor Jasper
This mini review presents a personal view about the past, the present and the future of the relationship between growth retardation and the IGF system. Looking back, it is pertinent to include a brief look at the evolution of the somatomedin hypothesis, the use of IGF-I determinations in the clinic, and a review of the literature beginning in the late 1980s with the description of mutations in the Growth Hormone Receptor (GHR) gene. The present possibly started in the mid-1990s with the description of mutations in the IGF-I gene, followed in 2003 by reports of mutations in the genes coding for the IGF-I receptor and in the signal transducer and activator of transcription 5b (STAT5b)...
November 8, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27798941/two-frameshift-mutations-in-mkrn3-in-turkish-patients-with-familial-central-precocious-puberty
#9
Enver Simsek, Meliha Demiral, Serdar Ceylaner, Birgul Kırel
BACKGROUND: Little is known about the genetic causes responsible for idiopathic central precocious puberty (iCPP). More recently, described loss-of-function mutations in the makorin ring finger protein 3 (MKRN3) gene have been demonstrated to be involved in the pathogenesis of familial iCPP. AIM: The objective of this study was to investigate the potential role of MKRN3 in patients with familial iCPP. METHODS: We investigated potential sequence variations in the maternal imprinted MKRN3 gene using Next Generation Sequencing (NGS) analysis in 31 participants from 2 families (6 participants were diagnosed with familial iCPP on the basis of clinical and hormonal findings)...
November 1, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27798933/a-pediatric-patient-with-a-cyp24a1-mutation-four-years-of-clinical-biochemical-and-imaging-follow-up
#10
Diana-Alexandra Ertl, Adalbert Raimann, Dagmar Csaicsich, Janina M Patsch, Franco Laccone, Gabriele Haeusler
BACKGROUND: A female infant was admitted to hospital due to failure to thrive. She presented hypercalcemia (4.09 mmol/L, normal range: 2.2-2.65 mmol/L), high 25-hydroxyvitamin D (283 nmol/L, normal range: 75-250 nmol/L), 1,25-dihydroxyvitamin D in the upper normal range, and low parathyroid hormone. Vitamin D intoxication was suspected. The patient had received routine rickets prophylaxis. METHODS: Williams-Beuren syndrome was genetically excluded. Sequencing of CYP24A1 showed 2 mutations: c...
November 1, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27784012/multiplex-ligation-dependent-probe-amplification-accurately-detects-turner-syndrome-in-girls-with-short-stature
#11
Anna Grandone, Francesca Del Vecchio Blanco, Annalaura Torella, Manuela Caruso, Filippo De Luca, Raffaella Di Mase, Maria Francesca Messina, Maria Carolina Salerno, Alessia Sallemi, Lucia Perone, Pierluigi Marzuillo, Emanuele Miraglia Del Giudice, Vincenzo Nigro, Laura Perrone
AIMS: We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot TS group. We then tested this value on a second group of TS patients and a short-stature population to measure specificity and sensitivity. METHODS: 15 TS patients with X mosaicism or X structural abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled...
October 27, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27756075/ectopic-intrathyroidal-thymus-in-childhood-a-sonographic-finding-leading-to-misdiagnosis
#12
Elpis-Athina Vlachopapadopoulou, Marina Vakaki, Fotini-Eleni Karachaliou, Irene Kaloumenou, Kleanthi Kalogerakou, Christina Gali, Stefanos Michalacos
BACKGROUND: During gestation, the primordial thymus migrates from the pharynx to the anterior mediastinum, thus thymic tissue can remain at any point along this path. Intrathyroidal thymic remnants are rare, and their sonographic patterns have only recently been described. This retrospective study presents the sonographic appearance of ectopic intrathyroidal thymus and emphasizes the role of sonography in order to avoid misdiagnosis. METHODS: The population consisted of 42 children, 3...
October 19, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27685026/small-at-birth-but-how-small-the-definition-of-sga-revisited
#13
Daniel Zeve, Molly O Regelmann, Ian R Holzman, Robert Rapaport
No abstract text is available yet for this article.
September 30, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27676402/genotype-phenotype-relationship-in-patients-and-relatives-with-shox-region-anomalies-in-the-french-population
#14
Julie Auger, Amandine Baptiste, Imane Benabbad, Gaëlle Thierry, Jean-Marc Costa, Mélanie Amouyal, Marie-Laure Kottler, Bruno Leheup, Renaud Touraine, Sébastien Schmitt, Marine Lebrun, Valérie Cormier Daire, Jean-Paul Bonnefont, Nicolas de Roux, Caroline Elie, Myriam Rosilio
BACKGROUND: The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. METHODS: We performed a retrospective multicenter study on French subjects with a SHOX region anomaly diagnosed by multiplex ligation-dependent probe amplification or Sanger sequencing. Phenotypes were collected in each of the 7 genetic laboratories practicing this technique for SHOX analysis...
September 28, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27657553/the-cross-link-between-adipokines-insulin-resistance-and-obesity-in-offspring-of-diabetic-pregnancies
#15
Latife Bozkurt, Christian S Göbl, Birgit Rami-Merhar, Yvonne Winhofer, Sabina Baumgartner-Parzer, Edith Schober, Alexandra Kautzky-Willer
BACKGROUND/AIMS: Intrauterine exposure to hyperglycemia might impact the risk for future metabolic deteriorations. The aim was to characterize the association between different adipokines and neuropeptides and insulin resistance and BMI-SDS in children affected by diabetes during pregnancy. METHODS: 76 children (mean age: 6 years, male:female = 36:40) born to mothers with gestational or pregestational diabetes and nondiabetic women were consecutively included for clinical assessments comprising anthropometrics and metabolic characterization [2-hour glucose tolerance test, leptin, peptide YY (PYY), neuropeptide Y (NPY), ghrelin, growth differentiation factor 15 (GDF-15), and adiponectin]...
September 23, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27649574/a-case-of-mecp2-duplication-syndrome-with-gonadotropin-dependent-precocious-puberty
#16
Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Kenji Kurosawa, Kenichi Kashimada, Tomohiro Morio
BACKGROUND: MECP2 duplication syndrome, which is caused by duplication of part of the Xq28 region containing the MECP2 gene, causes intellectual disability and mild dysmorphic features in males. To date, precocious puberty has not been reported as a clinical feature of MECP2 duplication syndrome. METHODS: A 6-year-old male with severe intellectual disability was referred because of growth acceleration and precocious puberty. We checked his hormonal profile and conducted imaging studies and an array comparative genomic hybridization analysis...
September 21, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27649541/growth-hormone-stimulation-tests-in-children-with-kabuki-syndrome
#17
Dina A Schott, Willem J M Gerver, Constance T R M Stumpel
BACKGROUND/AIMS: Kabuki syndrome is a multiple congenital malformation syndrome with a variety of clinical features including short stature. The cause of this postnatal short stature remains unknown. METHODS: Eighteen children with genetically proven Kabuki syndrome (8 boys and 10 girls; ages 3.3-9.9 years, with a mean of 6.7 years) who underwent growth hormone (GH) stimulation tests were evaluated in a prospective study. Two GH stimulation tests were conducted, including insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) serum levels...
September 21, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27631398/myxedema-coma-secondary-to-central-hypothyroidism-a-rare-but-real-cause-of-altered-mental-status-in-pediatrics
#18
Michael D Thompson, Rohan K Henry
BACKGROUND: Myxedema coma (MC), a medical emergency defined as severe hypothyroidism leading to altered mental status, is more common in older women with hypothyroidism. METHODS/RESULTS: A 7-year-old Caucasian male with chromosome 1q deletion presented with altered mental status preceded by milestone regression. His presenting labs results were: thyroid-stimulating hormone (TSH) 0.501 μIU/ml and free thyroxine (T4) <0.5 ng/dl. His morning cortisol level was 8...
September 16, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27614983/early-bilateral-gonadoblastoma-in-a-young-child-with-mosaicism-for-turner-syndrome-and-trisomy-18-with-y-chromosome
#19
Jayne M MacMahon, Maureen J O'Sullivan, Michael McDermott, Feargal Quinn, Thomas Morris, Andrew J Green, David R Betts, Susan M O'Connell
Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. We present the case of a phenotypically female infant born with dysmorphic features. G-banded karyotype and interphase FISH of blood showed 45,X in 95% and 47,XY,+18 (trisomy 18) in 5% of cells analysed...
September 10, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27603324/a-6-month-trial-of-the-efficacy-and-safety-of-triptorelin-pamoate-11-25-mg-every-3-months-in-children-with-precocious-puberty-a-retrospective-comparison-with-triptorelin-acetate
#20
Delphine Zenaty, Joelle Blumberg, Nilani Liyanage, Evelyne Jacqz-Aigrain, Najiba Lahlou, Jean-Claude Carel
BACKGROUND/AIMS: To evaluate the efficacy and safety of a triptorelin pamoate (11.25 mg) 3-month formulation in the management of central precocious puberty (CPP) (TP Study) and to retrospectively compare it with a triptorelin acetate (11.25 mg) 3-month formulation (TA Study). METHODS: We conducted two phase III, multicentre, single-stage, non-comparative, open-label studies. In the TP Study, patients with CPP received an intramuscular injection of triptorelin pamoate 11...
September 7, 2016: Hormone Research in Pædiatrics
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