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Hormone Research in Pædiatrics

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https://www.readbyqxmd.com/read/29320782/thyroid-hormone-status-in-overweight-children-with-attention-deficit-hyperactivity-disorder
#1
Christian Langrock, Johannes Hebebrand, Katharina Radowksi, Eckard Hamelmann, Thomas Lücke, Martin Holtmann, Tanja Legenbauer, Börge Schmidt, Mirjam Frank, Karl-Heinz Jöckel, Thomas Reinehr
BACKGROUND: There is an ongoing discussion whether thyroid hormones are involved in the development and course of attention deficit/hyperactivity disorder (ADHD). Since obesity is associated with both higher thyroid-stimulating hormone (TSH) and free triiodothyronine (fT3) concentrations and increased rates of ADHD, we hypothesized that overweight children with ADHD show higher TSH and fT3 concentrations compared to overweight children without ADHD. METHODS: TSH, fT3, fT4, and leptin levels were analyzed in 230 children (60...
January 10, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29275408/prediction-of-spontaneous-puberty-in-turner-syndrome-based-on-mid-childhood-gonadotropin-concentrations-karyotype-and-ovary-visualization-a-longitudinal-study
#2
Magdalena Hankus, Kamil Soltysik, Kamila Szeliga, Aleksandra Antosz, Agnieszka Drosdzol-Cop, Krzysztof Wilk, Agnieszka Zachurzok, Ewa Malecka-Tendera, Aneta Monika Gawlik
AIMS: To investigate whether karyotype, mid-childhood (6-10 years) follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, and ultrasound ovary visualization results can be used as indicators of spontaneous puberty in Turner syndrome (TS). METHODS: The analysis was based on clinical and biochemical data from 110 TS girls aged >13 years at the end of the study (1,140 visits between 1996 and 2015). The study population was divided according to karyotype: 45,X and non-45,X...
December 22, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29241206/a-multicenter-experience-with-long-acting-somatostatin-analogues-in-patients-with-congenital-hyperinsulinism
#3
Ivo van der Steen, Mirjam E van Albada, Klaus Mohnike, Henrik Thybo Christesen, Susann Empting, Maria Salomon-Estebanez, Amalie Greve Rasmussen, Annemarie Verrijn Stuart, Annelieke A A van der Linde, Indraneel Banerjee, Annemieke M Boot
BACKGROUND/AIMS: Congenital hyperinsulinism (CHI) is a rare disease characterized by recurrent severe hypoglycemia. In the diffuse form of CHI, pharmacotherapy is the preferred choice of treatment. Long-acting somatostatin analogues have been used in children as off-label medication. However, the efficacy, outcomes, and adverse effect profiles of long-acting somatostatin analogues have not been described in multicentered studies. The aim of this retrospective study is to summarize the experience with long-acting somatostatin analogues in a large group of children with CHI...
December 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29212077/long-term-skeletal-disproportion-in-childhood-onset-crohn-s-disease
#4
Avril Mason, Konstantinos Gerasimidis, Jelena Iljuhhina, Susan Laird, Joanne Munro, Daniel R Gaya, Richard K Russell, S Faisal Ahmed
BACKGROUND: It is unclear whether Crohn's disease (CD) is associated with skeletal disproportion in adulthood. METHODS: Height (Ht), sitting height (SHt) and leg length were studied in 44 children (male: 22), 23 adults (male: 10) with childhood-onset (CO) CD and 26 adults (male: 9) with adult-onset (AO) CD with a median (range) age of 13.7 (10, 17.3), 21.5 (18, 32) and 31.0 (22, 40) years, respectively. RESULTS: Adults with CO-CD had a median Ht standard deviation score (SDS) of -0...
December 6, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29207397/relationship-of-serum-fetuin-a-with-metabolic-and-clinical-parameters-in-german-children-and-adolescents-with-type-1-diabetes
#5
Christina Reinauer, Thomas Reinehr, Christina Baechle, Beate Karges, Julia Seyfarth, Katharina Foertsch, Martin Schebek, Joachim Woelfle, Michael Roden, Reinhard W Holl, Joachim Rosenbauer, Thomas Meissner
BACKGROUND AND AIM: The hepatokine fetuin A is upregulated in the metabolic syndrome and in type 2 diabetes (T2D), while its role in adolescent type 1 diabetes (T1D) is unclear. We assessed the relationship between circulating fetuin A levels and metabolic control, comorbidities, and complications in adolescent T1D patients. METHODS: We studied the relationship between serum fetuin A and clinical diabetes-related data from the DPV registry (Diabetes-Pa-tienten-Verlaufsdokumentation) in 172 adolescent T1D patients with early-onset (<5 years) long-standing (>10 years) T1D...
December 5, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29176324/pituitary-dysfunction-in-pediatric-patients-with-optic-nerve-hypoplasia-a-retrospective-cohort-study-1975-2014
#6
Naseem Alyahyawi, Keira Dheensaw, Nazrul Islam, Maryam Aroichane, Shazhan Amed
BACKGROUND/AIMS: The risk factors for pituitary hormone dysfunction (PHD) in children with optic nerve hypoplasia (ONH) are not well understood. This study identified the type, timing, and predictors of PHD in children with ONH. METHODS: ONH patient charts were reviewed retrospectively. The incidence rate of PHD was calculated assuming a Poisson distribution. Predictors of PHD were identified through a multivariable Cox proportional hazards model. RESULTS: Among 144 subjects with ONH, 49...
November 24, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29161691/failure-to-thrive-in-the-context-of-carney-complex
#7
Amit Tirosh, Adi Auerbach, Belen Bonella, Phaedon D Zavras, Elena Belyavskaya, Charalampos Lyssikatos, Karen Meir, Ram Weiss, Hagit Daum, Maya B Lodish, David Gillis, Constantine A Stratakis
BACKGROUND/AIMS: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT). METHODS: A retrospective case series of pediatric patients with CNC presenting with FTT. RESULTS: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC...
November 21, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29151100/correlation-between-cosyntropin-stimulation-study-and-disease-severity-in-children-with-fluid-and-catecholamine-refractory-shock-in-the-pediatric-and-cardiovascular-intensive-care-unit
#8
Pallavi Iyer, Brittany Harrington, Jeffrey J Fadrowski, Erica Sibinga, Ernest K Amankwah
BACKGROUND: The cosyntropin stimulation study (CSS) measures the patient's ability to adequately mount a cortisol response. Clinically, CSS results may not be used to guide hydrocortisone use. The objective of this study was to examine how the CSS results are associated with clinical parameters, mortality/disease severity, and use of glucocorticoids in pediatric patients with catecholamine- and fluid-resistant shock. METHODS: This was a retrospective cohort study of patients who had a CSS during 2009-2014 in the intensive care unit at a children's hospital...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29151085/a-novel-mutation-in-the-critical-p-box-residue-of-steroidogenic-factor-1-presenting-with-xy-sex-reversal-and-transient-adrenal-failure
#9
Anna S Orekhova, Natalia Kalinchenko, Ivan A Morozov, Evgeny V Vasilyev, Petr M Rubtsov, Ivan I Dedov, Anatoly Tiulpakov
BACKGROUND: Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and in vivo studies, cases of SF1 deficiency associated with adrenal failure are exceptionally rare. The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the "classic" SF1 phenotype with a novel NR5A1 mutation affecting G35 residue...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29151084/formal-neurocognitive-testing-in-60-patients-with-congenital-hyperinsulinism
#10
Anja Ludwig, Simone Enke, Janine Heindorf, Susann Empting, Thomas Meissner, Klaus Mohnike
BACKGROUND: Congenital hyperinsulinism (CHI) is hallmarked by persistent hypoketotic hypoglycemia in infancy. In the majority of all patients, CHI is caused by mutations in the KATP channel genes ABCC8 and KCNJ11, but other genes in the insulin-regulatory pathway have also been described. Repeated episodes of hypoglycemia include an increased risk of seizures and intellectual disability. So far, controlled psychometric studies on cognitive, motor, speech, and social-emotional outcome of CHI patients are missing...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29151082/survey-on-paediatric-differentiated-thyroid-cancer-care-in-europe
#11
Bernadette L Dekker, Kate L Newbold, Dagmar Führer, Steven G Waguespack, Daria Handkiewicz-Junak, Thera P Links
BACKGROUND/AIMS: Thyroid cancer among children is a very rare disease. Although survival is favourable, morbidity caused by the treatment remains considerable, so there is a great need to optimize management by international cooperation. For this reason, the 2016 European Thyroid Association-Cancer Research Network (ETA-CRN) meeting in Copenhagen, Denmark, paid considerable attention to this topic and aimed to give an overview of the care for this paediatric patient group in different European countries...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29130988/recurrent-copy-number-variants-associated-with-syndromic-short-stature-of-unknown-cause
#12
Thais K Homma, Ana C V Krepischi, Tatiane K Furuya, Rachel S Honjo, Alexsandra C Malaquias, Debora R Bertola, Silvia S Costa, Ana P Canton, Rosimeire A Roela, Bruna L Freire, Chong A Kim, Carla Rosenberg, Alexander A L Jorge
BACKGROUND/AIMS: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. METHODS: We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All patients were evaluated by chromosomal microarray (array-based comparative genomic hybridization/single nucleotide polymorphism array)...
November 9, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29131093/metformin-for-rapidly-maturing-girls-with-central-adiposity-less-liver-fat-and-slower-bone-maturation
#13
Francis de Zegher, Cristina García Beltrán, Abel López-Bermejo, Lourdes Ibáñez
BACKGROUND/AIMS: Girls with low-birth weight (LBW) and postnatal weight catch-up tend to develop visceral and hepatic fat excess, which may be accompanied by an upregulated adrenarche with precocious pubarche (PP) and by a rapidly progressive puberty with early menarche and shorter stature. A pilot study suggested that metformin treatment for 4 years reduces central adiposity in LBW-PP girls and normalizes puberty and adult height. In this cohort, we studied the relationship between metformin treatment, bone maturation, and body composition...
November 7, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29131017/initial-presentation-of-type-2-diabetes-in-adolescents-predicts-durability-of-successful-treatment-with-metformin-monotherapy-insights-from-the-pediatric-diabetes-consortium-t2d-registry
#14
Fida Bacha, Peiyao Cheng, Robin L Gal, Craig Kollman, William V Tamborlane, Georgeanna J Klingensmith, Katherine Manseau, Jamie Wood, Roy W Beck
BACKGROUND/AIMS: Many adolescents with type 2 diabetes (T2D) have rapid deterioration of glycemic control on metformin monotherapy within 2 years of diagnosis. METHODS: Enrollment data from the Pediatric Diabetes Consortium T2D Registry were used to categorize 276 youth with a T2D duration ≥2 years into two groups: (1) participants with HbA1c <7.5% on metformin monotherapy (group 1, n = 75) and (2) participants treated with insulin ± metformin (group 2, n = 201)...
October 31, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29084400/type-2-diabetes-mellitus-in-adolescents-should-we-reconsider-screening
#15
Thomas Reinehr
No abstract text is available yet for this article.
October 30, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29073619/sodium-chloride-supplementation-is-not-routinely-performed-in-the-majority-of-german-and-austrian-infants-with-classic-salt-wasting-congenital-adrenal-hyperplasia-and-has-no-effect-on-linear-growth-and-hydrocortisone-or-fludrocortisone-dose
#16
Walter Bonfig, Friedhelm Roehl, Stefan Riedl, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Angela Hübner, Markus Bettendorf, Eckhard Schönau, Helmut Dörr, Reinhard W Holl, Klaus Mohnike
INTRODUCTION: Sodium chloride supplementation in salt-wasting congenital adrenal hyperplasia (CAH) is generally recommended in infants, but its implementation in routine care is very heterogeneous. OBJECTIVE: To evaluate oral sodium chloride supplementation, growth, and hydrocortisone and fludrocortisone dose in infants with salt-wasting CAH due to 21-hydroxylase in 311 infants from the AQUAPE CAH database. RESULTS: Of 358 patients with classic CAH born between 1999 and 2015, 311 patients had salt-wasting CAH (133 females, 178 males)...
October 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29073591/targeted-resequencing-of-putative-growth-related-genes-using-whole-exome-sequencing-in-patients-with-severe-primary-igf-i-deficiency
#17
Greta Grosse, Alina Hilger, Michael Ludwig, Heiko Reutter, Franziska Lorenzen, Gertrud Even, Paul-Martin Holterhus, Joachim Woelfle
BACKGROUND/AIMS: To elucidate the genetic causes of severe primary insulin-like growth factor-I deficiency (SPIGFD) by systematic, targeted, next-generation sequencing (NGS)-based resequencing of growth-related genes. METHODS: Clinical phenotyping followed by NGS in 17 families including 6 affected sib pairs. RESULTS: We identified disease-causing, heterozygous, de novo variants in HRAS (p.Gly13Cys) and FAM111A (p.Arg569His) in 2 male patients with syndromic SPIGFD...
October 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28965112/igf-i-deficiency-in-the-era-of-genomics-lessons-learned
#18
Andrew Dauber
No abstract text is available yet for this article.
September 29, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28954263/beneficial-effects-of-high-doses-of-cabergoline-in-the-treatment-of-giant-prolactinoma-resistant-to-dopamine-agonists-a-case-report-with-a-21-year-follow-up
#19
Lucas Faria de Castro, Maria de Fátima Magalhães Gonzaga, Luciana Ansaneli Naves, José Luiz Mendonça, Benicio Oton de Lima, Luiz Augusto Casulari
INTRODUCTION: Prolactinomas are pituitary tumors with a very low prevalence in childhood and adolescence compared to adulthood. This condition is preferentially treated with dopamine agonists. Resistance to these drugs is rare. CASE REPORT: We describe the case of a boy diagnosed with macroadenoma at the age of 9 and followed up for 21 years. He did not fully respond to treatment with dopamine agonists. His initial prolactin level was 2,400 ng/mL (in males, normal values are <16...
September 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28942447/anogenital-distance-in-term-newborns-in-kumasi-ghana
#20
Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Jean-Pierre Chanoine, Margaret Zacharin, Samuel Blay Nguah, Olumide Olatokunbo Jarrett
BACKGROUND: Anogenital distance (AGD) is a simple noninvasive measure of foetal androgen exposure. This study was done to generate normative data on AGD in Ghanaian newborns. METHODS: AGD was measured in 644 male and 612 female term newborns; including the distance between the anterior base of the penis and the centre of the anus, the posterior base of the penis and the centre of the anus, and the posterior base of the scrotum and the centre of the anus (ASD) in males and the distance from the anus to the fourchette (AF) and from the anus to the base of the clitoris in females...
September 22, 2017: Hormone Research in Pædiatrics
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