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Hormone Research in Pædiatrics

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
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
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
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
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
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
Stefano Cianfarani, Olle Söder
No abstract text is available yet for this article.
September 16, 2016: Hormone Research in Pædiatrics
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
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
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
Carla Bizzarri, Stefania Pedicelli, Marco Cappa, Stefano Cianfarani
In newborns and infants, dehydration and salt wasting represent a relatively common cause of admission to hospital and may result in life-threatening complications. Kidneys are responsible for electrolyte homoeostasis, but neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron, leading to reduced ability to concentrate urine. High extrarenal fluid losses often contribute to the increased occurrence of electrolyte disorders. Aldosterone is essential for sodium retention in the kidney, salivary glands, sweat glands and colon...
September 7, 2016: Hormone Research in Pædiatrics
Saartje Straetemans, Jean De Schepper, Muriel Thomas, Franciska Verlinde, Raoul Rooman
BACKGROUND/AIM: To validate prediction models for near final adult height (nFAH) by Ranke et al. [Horm Res Paediatr 2013;79:51-67]. METHODS: Height data of 127 (82 male) idiopathic growth hormone (GH)-deficient children, treated with GH until nFAH, were retrieved from the database of the Belgian Society for Pediatric Endocrinology and Diabetology (BESPEED). nFAH was predicted after first-year GH treatment, applying prediction models by Ranke et al. Bland-Altman plots and Clarke error grid analyses were performed to assess clinical significance of the differences between observed and predicted nFAH...
September 6, 2016: Hormone Research in Pædiatrics
Federico Baronio, Laura Mazzanti, Ylenia Girtler, Federica Tamburrino, Anisia Fazzi, Fiorenzo Lupi, Silvia Longhi, Giorgio Radetti
BACKGROUND: Growth hormone (GH) influences glucose homeostasis by negatively affecting insulin sensitivity, leading to a compensatory increase in insulin secretion. It has recently been reported, in animals and humans, that GH might also stimulate insulin secretion by directly affecting the growth and function of pancreatic β-cells. The aim of this work was to longitudinally study the insulin sensitivity (HOMA-S), insulin secretion [insulinogenic index (IGI)] and capacity of β-cells to adapt to changes in insulin sensitivity [oral disposition index (ODI)] in GH-deficient (GHD) children under GH treatment...
September 6, 2016: Hormone Research in Pædiatrics
George A Ford, Sara Denniston, David Sesser, Michael R Skeels, Stephen H LaFranchi
BACKGROUND/AIMS: The newborn screening (NBS) program in Oregon, USA, collects two routine specimens in all infants. The aim of our study was to determine the incidence of permanent versus transient congenital hypothyroidism (CH) in infants detected on the first versus second screening test. METHODS: Thyroid function was determined in infants after the age of 3 years diagnosed with CH and born in Oregon between 2005 and 2011. Permanent hypothyroidism was defined as a TSH rise >10 mIU/ml after the first year on treatment or a TSH rise >6 mIU/ml with temporary discontinuation of l-thyroxine after the age of 3 years...
September 6, 2016: Hormone Research in Pædiatrics
Jan M Wit
No abstract text is available yet for this article.
September 3, 2016: Hormone Research in Pædiatrics
Colin P Hawkes, Babette S Zemel, Mairead Kiely, Alan D Irvine, Louise C Kenny, Jonathan O'B Hourihane, Deirdre M Murray
BACKGROUND/AIMS: Although early infant growth has implications for future health, body composition reference data in infancy are limited. The aim of this study was to describe reference data for fat mass (FM) and fat-free mass (FFM) corrected for length (L) within the first 3 months and to evaluate if these measures predict the body mass index (BMI) at 2 years. METHODS: Term infants had air displacement plethysmography performed at birth (n = 1,063) and approximately 2 months later (n = 922, between 49 and 86 days)...
August 25, 2016: Hormone Research in Pædiatrics
Jonathan M Swartz, Ryan Ciarlo, Michael H Guo, Aser Abrha, David A Diamond, Yee-Ming Chan, Joel N Hirschhorn
BACKGROUND: Undervirilized 46,XY males with bifid scrotum often pose a diagnostic challenge, and the majority of cases typically do not receive a genetic diagnosis. NR5A1 mutations can be seen in 10-20% of the cases and are a relatively common cause of undervirilization. METHODS: Whole-exome sequencing was utilized to study 10 undervirilized 46,XY subjects with bifid scrotum. RESULTS: Exome sequencing identified novel NR5A1 variants, both affecting exon 7, in 2 of the 10 subjects with bifid scrotum...
August 24, 2016: Hormone Research in Pædiatrics
Raquel Corripio, Leandro Soriano-Guillén, Francisco-Javier Herrero, Ramón Cañete, Lidia Castro-Feijoó, Aránzazu Escribano, Rafael Espino, José-Ignacio Labarta, Jesús Argente
BACKGROUND: The influence of gonadotropin-releasing hormone analogue (GnRHa) treatment on body mass index (BMI) evolution in girls with idiopathic central precocious puberty (CPP) is unclear. Hence, we aimed to evaluate the effect of GnRHa treatment on BMI-standard deviation score (SDS) from diagnosis of idiopathic CPP until adult height. METHODS: An observational study of girls diagnosed with CPP in Spain was carried out between January 2008 and December 2014. A computer program was designed to process clinical and biological data from patients treated in 55 departments of pediatric endocrinology throughout the country...
August 13, 2016: Hormone Research in Pædiatrics
Elna Kochummen, Schuyler Tong, Vatcharapan Umpaichitra, Vivian L Chin
BACKGROUND: Hürthle cell (HC) neoplasms are rare among pediatric thyroid cancers. HC adenomas (HCA) are typically benign and localized unilaterally without recurrence, and they are thus treated by hemithyroidectomy. HC carcinomas (HCC) can be bilateral and are more aggressive, necessitating total thyroidectomy. Diagnosis relies upon surgical histopathology demonstrating invasion for classification as HCC or lack of invasion in HCA, since fine needle aspiration fails to differentiate between the two...
July 29, 2016: Hormone Research in Pædiatrics
Judith Stoklasova, Jana Kaprova, Marie Trkova, Vera Nedomova, Dana Zemkova, Jana Matyskova, Ondrej Soucek, Zdenek Sumnik, Jan Lebl
BACKGROUND: Terminal Xp deletion leads to SHOX haploinsufficiency, and when it exceeds Xp22.33 it causes a variant of Turner syndrome (TS) in which gonadal function is preserved and short stature constitutes the major clinical feature. CASE REPORT: We present a family with vertical transmission of TS that affected six women in four sequential generations. The karyotype was defined as a combination of terminal Xp deletion and terminal Xq duplication: 46,X,rec(X)inv(p21...
July 27, 2016: Hormone Research in Pædiatrics
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