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Hormone Research in Pædiatrics

Jani Liimatta, Harri Sintonen, Pauliina Utriainen, Raimo Voutilainen, Jarmo Jääskeläinen
BACKGROUND/AIM: Children with premature adrenarche (PA) are taller and more overweight than their healthy peers, and PA girls have a slightly accelerated pubertal development. There is some evidence that early exposure to androgens may have an influence on psychosocial development. The aim of this cross-sectional case-control study was to evaluate health-related quality of life (HRQoL) in PA children at the age of 12 years. METHODS: The HRQoL was assessed for 43 PA (36 girls) and 63 control children (52 girls) at the median age of 12...
March 2, 2018: Hormone Research in Pædiatrics
Fulvia Baldinotti, Tiziana Cavallaro, Eleonora Dati, Giampiero I Baroncelli, Veronica Bertini, Angelo Valetto, Francesco Massart, Gian Maria Fabrizi, Giampietro Zanette, Diego Peroni, Silvano Bertelloni
BACKGROUND: In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. PATIENTS AND METHODS: Clinical records of 12 patients with 46,XY GD and unknown genetic background were reviewed and a 46,XY woman with peripheral neuropathy was individuated. Her 46,XX sister affected by similar neuropathy was also investigated. Genomic DNA was extracted and DHH exons sequenced and analyzed...
February 22, 2018: Hormone Research in Pædiatrics
Kathleen L Curley, Sachini Kahanda, Katia M Perez, Beth A Malow, Ashley H Shoemaker
BACKGROUND/AIMS: Pseudohypoparathyroidism (PHP) is a rare, genetic disorder. Patients with PHP may have increased prevalence of obstructive sleep apnea (OSA) but this has not been prospectively studied. METHODS: We enrolled children aged 6-18 years with PHP and matched controls. Evaluation included physical examination, medical history, and polysomnography. RESULTS: Fifteen children with PHP type 1A (PHP1A) and 15 controls completed the study...
February 16, 2018: Hormone Research in Pædiatrics
Federico G Hawkins-Carranza, María T Muñoz-Calvo, Gabriel Á Martos-Moreno, Gonzalo Allo-Miguel, Luis Del Río, Jesús Pozo, Julie A Chowen, Luis A Pérez-Jurado, Jesús Argente
AIM: Our objective was to determine changes in bone mineral density (BMD), trabecular bone score (TBS), and body composition after 2 years of therapy with recombinant human insulin-like growth factor-1 (rhIGF-1) in 2 prepubertal children with a complete lack of circulating PAPP-A2 due to a homozygous mutation in PAPP-A2 (p.D643fs25*) resulting in a premature stop codon. METHODS: Body composition, BMD, and bone structure were determined by dual-energy X-ray absorptiometry at baseline and after 1 and 2 years of rhIGF-1 treatment...
February 16, 2018: Hormone Research in Pædiatrics
Thomas Breil, Catherine Lorz, Daniela Choukair, Janna Mittnacht, Ioana Inta, Daniela Klose, Jessica Jesser, Egbert Schulze, Markus Bettendorf
BACKGROUND: Paediatric prolactinomas are rare. The aim of this study was to investigate the clinical features and outcome of paediatric patients with prolactinomas. METHODS: In this single-centre retrospective analysis, clinical, biochemical, and radiological features of all paediatric patients with pituitary adenomas diagnosed between 2000 and 2016 were evaluated. RESULTS: Among 21 patients with pituitary adenomas, 12 patients with prolactinomas (median age 14...
February 16, 2018: Hormone Research in Pædiatrics
Tomohiro Ishii, Masanori Adachi, Kei Takasawa, Satoshi Okada, Hotaka Kamasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Keisuke Nagasaki, Chikahiko Numakura, Shohei Harada, Kanshi Minamitani, Shigetaka Sugihara, Toshihiro Tajima
BACKGROUND/AIMS: We aimed to evaluate the incidence and characteristics of adrenal crisis in Japanese children with 21-hydroxylase deficiency (21-OHD). METHODS: We conducted a retrospective nationwide survey for the councilors of the Japanese Society for Pediatric Endocrinology (JSPE) regarding adrenal crisis in children under 7 years with 21-OHD, admitted to hospitals from 2011 through 2016. We defined adrenal crisis as the acute impairment of general health due to glucocorticoid deficiency with at least two of symptoms, signs, or biochemical abnormalities...
February 16, 2018: Hormone Research in Pædiatrics
Carla Bizzarri, Tiziana Antonia Timpanaro, Maria Cristina Matteoli, Ippolita Patrizia Patera, Marco Cappa, Stefano Cianfarani
BACKGROUND: Linear growth was reported to be negatively affected by type 1 diabetes mellitus (T1DM), in relation to disease duration and poor metabolic control. It is unclear whether a subtle growth failure still persists despite the optimization of therapy. Our aim was to analyse pubertal growth, adult height, and metabolic profile in a cohort of children with T1DM undergoing intensive insulin treatment by multiple daily injections or continuous subcutaneous insulin infusion (CSII). METHODS: One-hundred and four children (51 males) with prepubertal onset of T1DM were prospectively followed up to final height attainment...
February 16, 2018: Hormone Research in Pædiatrics
Shlomit Shalitin, Lihi Pertman, Michal Yackobovitch-Gavan, Isaac Yaniv, Yael Lebenthal, Moshe Phillip, Jerry Stein
BACKGROUND/AIMS: The objective was to evaluate endocrine complications in survivors of hematopoietic stem cell transplantation (HSCT) performed during childhood. METHODS: Endocrine dysfunction and metabolic syndrome parameters were assessed by chart review of 178 childhood HSCT survivors (median age at evaluation, 15.5 [range: 3.8-29.8] years; median follow-up, 8.5 [range: 2-23.4] years). RESULTS: The following statistically significant associations were identified (p < 0...
January 19, 2018: Hormone Research in Pædiatrics
Laura van Iersel, Hanneke M van Santen, Gladys R J van Zandwijken, Nitash Zwaveling-Soonawala, Anita C S Hokken-Koelega, A S Paul van Trotsenburg
BACKGROUND: Growth hormone (GH) treatment may unmask central hypothyroidism (CeH). This was first observed in children with GH deficiency (GHD), later also in adults with GHD due to acquired "organic" pituitary disease. We hypothesized that newly diagnosed CeH in children after starting GH treatment for nonacquired, apparent isolated GHD points to congenital "organic" pituitary disease. METHODS: Nationwide, retrospective cohort study including all children with nonacquired GHD between 2001 and 2011 in The Netherlands...
January 18, 2018: Hormone Research in Pædiatrics
Colin P Hawkes, Deirdre M Murray, Louise C Kenny, Mairead Kiely, Jonathan O'B Hourihane, Alan D Irvine, Zengru Wu, Yair Argon, Richard E Reitz, Michael J McPhaul, Adda Grimberg
BACKGROUND: Immunoassays used to measure insulin-like growth factor (IGF)-I and -II concentrations are susceptible to interference from IGF-binding proteins. The aim of this study was to investigate the association of IGF-I and -II concentrations at birth with neonatal anthropometry using a liquid chromatography/mass spectrometry (LCMS) assay. METHODS: LCMS was used to measure IGF-I and -II concentrations in umbilical cord blood of term, healthy infants enrolled in the Cork BASELINE Birth Cohort Study...
January 18, 2018: Hormone Research in Pædiatrics
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
Jan Lebl, Andrea Luczay, Feyza Darendeliler, Rasa Verkauskienė
No abstract text is available yet for this article.
2018: Hormone Research in Pædiatrics
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...
2018: Hormone Research in Pædiatrics
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...
2018: Hormone Research in Pædiatrics
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...
2018: Hormone Research in Pædiatrics
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...
2018: Hormone Research in Pædiatrics
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...
2018: Hormone Research in Pædiatrics
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...
2018: Hormone Research in Pædiatrics
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...
2018: Hormone Research in Pædiatrics
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...
2018: Hormone Research in Pædiatrics
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