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Hormone Research in Pædiatrics

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https://www.readbyqxmd.com/read/28081535/efficacy-and-safety-of-continuous-subcutaneous-infusion-of-recombinant-human-gonadotropins-for-congenital-micropenis-during-early-infancy%C3%A2
#1
Athanasia Stoupa, Dinane Samara-Boustani, Isabelle Flechtner, Graziella Pinto, Isabelle Jourdon, Laura González-Briceño, Maud Bidet, Kathleen Laborde, Didier Chevenne, Anne-Elodie Millischer, Henri Lottmann, Thomas Blanc, Yves Aigrain, Michel Polak, Jacques Beltrand
BACKGROUND: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis. METHODS: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1)...
January 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28073108/salivary-testosterone-during-the-minipuberty-of-infancy%C3%A2
#2
Maria Contreras, Manish Raisingani, Donald Walt Chandler, William D Curtin, Julia Barillas, Preneet Cheema Brar, Kris Prasad, Bina Shah, Raphael David
BACKGROUND: The hypothalamic-pituitary-gonadal axis is transiently activated during the postnatal months in boys, a phenomenon termed "minipuberty" of infancy, when serum testosterone (T) increases to pubertal levels. Despite high circulating T there are no signs of virilization. We hypothesize that free T as measured in saliva is low, which would explain the absence of virilization. METHODS: We measured serum total T and free T in saliva using liquid chromatography-tandem mass spectrometry (LC-MS/MS) in 30 infant boys, aged 1-6 months, and in 12 adolescents, aged 11-17 years...
January 10, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28068655/carotid-intima-media-thickness-in-children-treated-with-growth-hormone-a-follow-up-study-over-three-years
#3
Juliane Rothermel, Caroline Knop, Nina Lass, Christina Toschke, Rainer Wunsch, Thomas Reinehr
BACKGROUND: There is an ongoing discussion whether high doses of growth hormone (GH) may lead to cardiovascular diseases. Therefore, we studied the longitudinal relationships between GH treatment and carotid intima-media thickness (cIMT), which is predictive of the development of atherosclerosis. METHODS: We measured blood pressure, lipids, hemoglobin HbA1c, IGF-1, IGFBP-3, and cIMT in 28 children treated with supraphysiological doses of GH (mean age 9.8 ± 2.2 years, 39% males) and 36 children suffering from GH deficiency (GHD) and treated with physiological doses of GH (mean age 9...
January 10, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28013309/clinical-and-genetic-characterization-of-tunisian-children-with-hereditary-1-25-dihydroxyvitamin-d-resistant-rickets
#4
Salma Ben Ameur, Caroline Silve, Imene Chabchoub, Fatma Damak, Fatma Kamoun, Aurélie Toussaint, Sana Kmiha, Lamia Sfaihi, Ines Maaloul, Thouraya Kamoun, Hajer Aloulou, Mongia Hachicha
BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor (VDR) gene. Some HVDRR patients also have alopecia. PATIENTS AND METHODS: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR. RESULTS: Eight patients from 7 families met the inclusion criteria...
December 24, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28002818/safety-outcomes-and-near-adult-height-gain-of-growth-hormone-treated-children-with-shox-deficiency-data-from-an-observational-study-and-a-clinical-trial
#5
Imane Benabbad, Myriam Rosilio, Christopher J Child, Jean-Claude Carel, Judith L Ross, Cheri L Deal, Stenvert L S Drop, Alan G Zimmermann, Nan Jia, Charmian A Quigley, Werner F Blum
BACKGROUND/AIMS: To assess auxological and safety data for growth hormone (GH)-treated children with SHOX deficiency. METHODS: Data were examined for GH-treated SHOX-deficient children (n = 521) from the observational Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS). For patients with near-adult height information, GeNeSIS results (n = 90) were compared with a clinical trial (n = 28) of SHOX-deficient patients. Near-adult height was expressed as standard deviation score (SDS) for chronological age, potentially increasing the observed effect of treatment...
December 22, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27992861/how-much-nutrition-for-how-much-growth-%C3%A2
#6
Michael Hermanussen, Jan M Wit
BACKGROUND/AIMS: Increasing agreement exists about the use of length-for-age as the indicator of choice in monitoring the long-term impact of chronic nutritional deficiency. Yet, already shortly after World War I, a causal link between nutrition and growth was questioned. Also, modern meta-analyses of controlled nutrition intervention studies show that the net effect of nutrition on body height is small. Broad evidence obtained from historic observations on human starvation made since the 19th century questions an obligatory association between nutrition and growth...
December 19, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27978517/management-of-fetal-and-neonatal-graves-disease
#7
Juliane Léger
Fetal and neonatal autoimmune hyperthyroidism is a rare, serious but transient disorder. Early diagnosis and treatment are key objectives for an optimal prognosis and the well-being of the child. This review focuses on the management of these patients during the fetal and neonatal periods. We propose a diagnostic algorithm for high-risk pregnancies in mothers with current or past hyperthyroidism related to Graves' disease, involving repeated fetal thyroid gland assessments from 20 weeks of gestation onwards and maternal serum thyroid-stimulating hormone receptor antibody (TRAb) determination, with close monitoring if TRAb levels exceed 2 to 3 times the upper limit of the normal range...
December 16, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27978531/steroidogenic-factor-1-sf-1-nr5a1-and%C3%A2-46-xx-ovotesticular-disorders-of-sex-development-%C3%A2-one-factor-many-phenotypes%C3%A2
#8
Kenneth McElreavey, John C Achermann
No abstract text is available yet for this article.
December 15, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27974716/early-bmi-gain-and-later-height-growth-predicts-higher-dheas-concentrations-in-7-year-old-chilean-children
#9
Verónica Mericq, Ana Pereira, Ricardo Uauy, Camila Corvalán
BACKGROUND: Accelerated weight and height gain in infancy have been associated with premature adrenarche. However, the exact tempo of these events remains undefined. Thus, our goal was to assess the relationship between early BMI and height growth in different periods before 7 years of age and plasma DHEAS levels at 7 years of age. METHODS: This is a longitudinal follow-up of participants of the Growth and Obesity Chilean Cohort Study (GOCS) that represents Chilean children from low- to middle-income families...
December 15, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27951529/predictor-variables-of-developing-anterior-pituitary-deficiencies-in-a-group-of-paediatric-patients-with-central-diabetes-insipidus-and-langerhans-cell-histiocytosis
#10
Elisa Vaiani, Carmen Malossetti, Lina Margarita Vega, Pedro Zubizarreta, Jorge Braier, Alicia Belgorosky
BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder of unknown etiopathogenesis. Central diabetes insipidus (CDI) is the most frequent endocrine manifestation and is a known risk factor for the development of further anterior pituitary hormone deficiencies (APD). However, not all CDI patients develop APD, as observed during prolonged periods of follow-up. AIM: To find predictors of developing APD in LCH children with CDI followed in our institution...
December 13, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27951541/pubertal-development-in%C3%A2-17beta-hydroxysteroid-dehydrogenase-type-3-deficiency%C3%A2
#11
Olaf Hiort, Louise Marshall, Wiebke Birnbaum, Lutz Wünsch, Paul-Martin Holterhus, Ulla Döhnert, Ralf Werner
BACKGROUND: 17β-hydroxysteroid dehydrogenase (17β-HSD) type 3 deficiency is an autosomal recessive disorder with diminished testosterone synthesis and consequently underandrogenisation. 46,XY patients with 17β-HSD type 3 deficiency are often assigned a female sex at birth but have a high virilisation potential at the time of puberty. METHODS: We studied four 46,XY patients with 17β-HSD type 3 deficiency at puberty with regard to the underlying mutations, the hormone values, and the clinical findings...
December 12, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27931036/clinical-exome-sequencing-reveals-mkrn3-pathogenic-variants-in-familial-and-nonfamilial-idiopathic-central-precocious-puberty
#12
Nelmar Valentina Ortiz-Cabrera, Rosa Riveiro-Álvarez, Miguel Ángel López-Martínez, Pilar Pérez-Segura, Isabel Aragón-Gómez, María José Trujillo-Tiebas, Leandro Soriano-Guillén
BACKGROUND/AIMS: Idiopathic central precocious puberty (ICPP) is the premature activation of the hypothalamic-pituitary-gonadal axis in the absence of organic disease. Up to now, just gain-of-function mutations of KISS1/KISS1R and loss-of-function mutations of the maternally imprinted gene MKRN3 are the known genetic causes of ICPP. Our intention is to evaluate variants present in genes related to the pubertal onset pathway that could act as disease-causing or predisposing variants. METHODS: We studied the clinical exome of 20 patients diagnosed with ICPP using the Illumina platform...
December 9, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27915352/baseline-characteristics-and-gender-differences-in-prepubertal-children-treated-with-growth-hormone-in-europe-usa-and-japan-25-years-kigs%C3%A2-experience-1987-2012-and-review
#13
Michael B Ranke, Anders Lindberg, Toshiaki Tanaka, Cecilia Camacho-Hübner, David B Dunger, Mitchell E Geffner
BACKGROUND: Information about disease-specific and gender-associated differences over longer time of short children treated with recombinant human growth hormone is missing. METHODS: We analyzed data at growth hormone (GH) start in prepubertal children diagnosed with idiopathic GH deficiency (IGHD), congenital GHD, acquired GHD, idiopathic short stature (ISS), and born small for gestational age (SGA) enrolled (1987-2012) in the Pfizer International Growth Study (KIGS®) from Europe, USA, and Japan...
December 3, 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
#14
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/27871080/the-association-between-premature-adrenarche-and-cardiovascular-risk-may-be-greater-than-expected
#15
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/27855412/a-46-xx-ovotesticular-disorder-of-sex-development-likely-caused-by-a-steroidogenic-factor-1-nr5a1-variant
#16
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/27798941/two-frameshift-mutations-in-mkrn3-in-turkish-patients-with-familial-central-precocious-puberty
#17
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
#18
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/27649574/a-case-of-mecp2-duplication-syndrome-with-gonadotropin-dependent-precocious-puberty
#19
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/27631398/myxedema-coma-secondary-to-central-hypothyroidism-a-rare-but-real-cause-of-altered-mental-status-in-pediatrics
#20
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
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