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Hormone Research in Pædiatrics

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https://www.readbyqxmd.com/read/28910808/detecting-congenital-central-hypothyroidism-by-newborn-screening-difficulty-in-distinguishing-from-congenital-thyroxine-binding-globulin-deficiency
#1
Kara J Connelly, Melinda J Pierce, Cheryl Hanna, Stephen H LaFranchi
BACKGROUND/AIMS: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4-binding globulin (TBG) deficiency. We sought to determine whether thyroid function tests reliably separate CH-C from TBG deficiency. METHODS: We analyzed NBS and serum free and total T4, T3 resin uptake (T3RU) or TBG, and TSH for infants in the Northwest Regional NBS Program (NWRSP) between the years 2008 and 2015 with either CH-C or TBG deficiency...
September 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28898885/pilot-neonatal-screening-program-for-central-congenital-hypothyroidism-evidence-of-significant-detection
#2
Débora Braslavsky, Maria Virginia Méndez, Laura Prieto, Ana Keselman, Rosa Enacan, Laura Gruñeiro-Papendieck, Nicolas Jullien, Alexandru Savenau, Rachel Reynaud, Thierry Brue, Ignacio Bergadá, Ana Chiesa
BACKGROUND/AIM: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. PATIENTS AND METHODS: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2-7 days...
September 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28898882/hospitalisation-in-children-with-adrenal-insufficiency-and-hypopituitarism-is-there-a-differential-burden-between-boys-and-girls-and-between-age-groups
#3
R Louise Rushworth, Georgina L Chrisp, Benjamin Dean, Henrik Falhammar, David J Torpy
BACKGROUND/AIMS: To determine the burden of hospitalisation in children with adrenal insufficiency (AI)/hypopituitarism in Australia. METHODS: A retrospective study of Australian hospitalisation data. All admissions between 2001 and 2014 for patients aged 0-19 years with a principal diagnosis of AI/hypopituitarism were included. Denominator populations were extracted from national statistics datasets. RESULTS: There were 3,779 admissions for treatment of AI/hypopituitarism in patients aged 0-19 years, corresponding to an average admission rate of 48...
September 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28898874/associations-between-liver-enzyme-levels-and-parameters-of-the-metabolic-syndrome-in-obese-children
#4
Christiane S Hampe, Michele L Shaffer, Christian L Roth
BACKGROUND: Obesity is strongly associated with insulin resistance, hypertension, dyslipidemia, and therefore risk for metabolic syndrome (MetS), which is an increasing problem in youth. The potential role of elevated liver enzyme levels in this context needs to be further investigated. METHODS: This paper provides a post hoc analysis of a cross-sectional study of 77 obese nondiabetic children (51% female; median age 11.7 years; BMI >97th percentile) enrolled at the University of Bonn, Bonn, Germany...
September 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28898870/short-term-vitamin-d3-supplementation-in-children-with-neurodisabilities-comparison-of-two-delivery-methods
#5
Francesca Penagini, Barbara Borsani, Katia Maruca, Valeria Giosia, Stefania Bova, Massimo Mastrangelo, Gian Vincenzo Zuccotti, Stefano Mora
BACKGROUND/AIMS: Vitamin D deficiency is common in children with neurodisabilities. Oral vitamin D3 may not be absorbed appropriately due to dysphagia and tube feeding. The aim of this study was to compare efficacy of vitamin D3 buccal spray with that of oral drops. METHODS: Twenty-four children with neurodisabilities (5-17 years) and vitamin D deficiency (25(OH)D ≤20 ng/mL) were randomized to receive vitamin D3 buccal spray 800 IU/daily (n = 12) or oral drops 750 IU/daily (n = 12) for 3 months during winter...
September 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28848168/novel-insights-in-the-metabolic-syndrome-in-childhood-and-adolescence
#6
Sarah Bussler, Melanie Penke, Gunter Flemming, Yasir S Elhassan, Jürgen Kratzsch, Elena Sergeyev, Tobias Lipek, Mandy Vogel, Ulrike Spielau, Antje Körner, Tommaso de Giorgis, Wieland Kiess
Metabolic syndrome (MetS) is recognized as an escalating major health risk in adults as well as in children and adolescents. Its prevalence ranges from 6 to 39% depending on the applied definition criteria. To date, there is no consensus on a MetS definition for children and adolescents. However, most authors agree on essential components such as glucose intolerance, central obesity, hypertension, and dyslipidemia; each representing a risk for cardiovascular disease. Recently, associations between MetS and non-alcoholic fatty liver disease, hyperuricemia, and sleep disturbances have emerged...
August 28, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28848142/brain-malformations-do-not-predict-hypopituitarism-in-young-children-with-optic-nerve-hypoplasia
#7
Pamela Garcia-Filion, Hashem Almarzouki, Cassandra Fink, Mitchell Geffner, Marvin Nelson, Mark Borchert
BACKGROUND: Optic nerve hypoplasia (ONH), a leading cause of pediatric blindness, is associated with brain malformations and hypopituitarism in the constellation known as septo-optic dysplasia. Neuroimaging is used to anticipate hypopituitarism, but with unconfirmed reliability. We report prospective findings on the association of hypopituitarism with brain malformations. METHODS: Children (<24 months) with ONH (n = 146; 87% bilateral) underwent baseline MRI and annual examinations and hormonal testing...
August 22, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28793284/growth-hormone-therapy-in-children-with-kabuki-syndrome-1-year-treatment-results
#8
Dina A Schott, Willem J M Gerver, Constance T R M Stumpel
BACKGROUND/AIMS: Kabuki syndrome (KS) is a rare genetic malformation syndrome, resulting in characteristic features such as short stature. We investigate whether growth hormone (GH) treatment increases linear height and influences body proportions in KS children. METHODS: In this prospective study, 18 genetically confirmed prepubertal KS children (9 females and 9 males) aged from 3.8 to 10.1 years (mean 6.8 ± 2.1 years) were treated with recombinant human GH (rhGH) for 1 year...
August 9, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28772271/remission-phase-in-paediatric-type-1-diabetes-new-understanding-and-emerging-biomarkers
#9
Mireia Fonolleda, Marta Murillo, Federico Vázquez, Joan Bel, Marta Vives-Pi
Type 1 diabetes (T1D) is a metabolic disease of unknown aetiology that results from the autoimmune destruction of the β-cells. Clinical onset with classic hyperglycaemic symptoms occurs much more frequently in children and young adults, when less than 30% of β-cells remain. Exogenous insulin administration is the only treatment for patients. However, due to glucose dysregulation, severe complications develop gradually. Recently, an increase in T1D incidence has been reported worldwide, especially in children...
August 3, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28768282/increased-non-high-density-lipoprotein-cholesterol-in-children-and-young-adults-with-turner-syndrome-is-not-explained-by-bmi-alone
#10
Jennifer C Kelley, Iris Gutmark-Little, Philippe Backeljauw, Vaneeta Bamba
BACKGROUND: Turner syndrome (TS) is associated with an increased risk of cardiovascular disease. Non-high-density lipoprotein cholesterol (non-HDL-C) is a convenient measure of atherogenicity (normal concentration <120 mg/dL) but has not been investigated in TS. We aim to evaluate non-HDL-C patterns in a cohort of pediatric and young adult females with TS. METHODS: A retrospective chart review was used to obtain demographics, body composition, genetic reports, and lipid profiles in females with TS...
August 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28746941/occurrence-of-cranial-neoplasms-in-pediatric-patients-with-noonan-syndrome-receiving-growth-hormone-is-screening-with-brain-mri-prior-to-initiation-of-growth-hormone-indicated
#11
Kanthi Bangalore Krishna, Pedro Pagan, Oscar Escobar, Jadranka Popovic
Noonan syndrome (NS) is associated with short stature. Growth hormone treatment has been FDA approved for use in these patients. Children with NS are at a higher risk of developing benign and malignant proliferative disorders, primary brain tumors being one of them. Since growth hormone therapy can worsen the tumor burden, screening with a brain MRI prior to growth hormone initiation in NS patients is strongly recommended. Here we present two NS patients who developed different primary brain tumors while being on growth hormone therapy...
July 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#12
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28719905/childhood-onset-adult-growth-hormone-deficiency-clinical-hormonal-and-radiological-assessment-in-a-single-center-in-china
#13
Hongbo Yang, Huijuan Zhu, Xuemin Yan, Hui Pan
BACKGROUND: Although growth hormone deficiency (GHD) is an important issue in pediatric patients, adult GHD (AGHD) is a neglected field of endocrinology in China. The aim of this study is to characterize the clinical, hormonal, and radiological features in childhood-onset AGHD (CO AGHD) in a single center in China and to compare them with counterparts from Japan. METHODS: The medical records of 78 Chinese patients with CO AGHD were reviewed and compared with data from the HypoCCS database study from Japan (N = 69)...
July 18, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28715822/long-term-cortisol-concentration-in-scalp-hair-of-asthmatic-children-using-inhaled-corticosteroids-a-case-control-study
#14
Maaike P Smit, Ed H G van Leer, Gerard Noppe, Yolanda B de Rijke, Dieneke Kramer van Driel, Erica L T van den Akker
INTRODUCTION: Inhaled corticosteroids (ICS) can interfere with the hypothalamic-pituitary-adrenal (HPA) axis and may lead to adrenal insufficiency, resulting in a decrease of cortisol production. Cortisol levels measured in scalp hair provide a marker for long-term cortisol exposure. Data regarding hair cortisol concentration (HCC) in asthmatic children with ICS therapy are scarce. The aim of this study is to compare HCC in asthmatic children under ICS treatment with a healthy control group...
July 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28715821/a-history-of-cow-s-milk-allergy-is-associated-with-lower-vitamin-d-status-in-schoolchildren
#15
Jenni Rosendahl, Mikael Fogelholm, Anna Pelkonen, Mika J Mäkelä, Outi Mäkitie, Maijaliisa Erkkola
BACKGROUND/AIMS: Vitamin D insufficiency is common in children. We aimed to evaluate the main determinants of vitamin D status in Finnish school-aged children, including the history of allergic diseases. METHODS: We conducted a cross-sectional study on 171 ten-year-olds where serum 25-hydroxyvitamin D (25[OH]D) levels were measured, and data on food consumption and use of vitamin D supplements were collected. The history of allergic diseases was evaluated with a validated questionnaire...
July 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28715814/the-impact-of-adolescent-obesity-on-adult-height
#16
Avivit Brener, Rachel Bello, Yael Lebenthal, Michal Jacobowitz-Gavan, Moshe Phillip, Shlomit Shalitin
BACKGROUND: Childhood obesity is a major health concern. Excess adiposity during childhood affects growth and puberty. Our aim was to assess whether genetic adult height is compromised in adolescents with obesity. METHODS: In a retrospective study of 190 obese patients followed at our Pediatric Endocrinology Institute, adult height and delta height (the difference between adult height and mid-parental height) were compared to those of 150 healthy age-matched normal-weight controls...
July 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28715810/population-pharmacokinetics-of-diazoxide-in-children-with-hyperinsulinemic-hypoglycemia
#17
Rika Kizu, Kazuko Nishimura, Reiko Sato, Kenjiro Kosaki, Toshiaki Tanaka, Yusuke Tanigawara, Tomonobu Hasegawa
BACKGROUND: Diazoxide is the first-line treatment for pediatric hyperinsulinemic hypoglycemia (HI). This study aimed to elucidate the pharmacokinetics of diazoxide in children with HI. METHODS: We obtained 81 blood samples from 22 children with HI. Measured serum diazoxide concentrations were used for population pharmacokinetic analysis. Patient factors influencing pharmacokinetics were estimated using nonlinear mixed-effects model analysis. Relationships between drug exposure and adverse drug reactions were also investigated...
July 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28697501/born-small-for-gestational-age-and-poor-school-performance-how-small-is-too-small
#18
Linda Lindström, Anna-Karin Wikström, Eva Bergman, Maria Lundgren
AIM: To assess the relationship between severity of small for gestational age (SGA) and the risk of poor school performance, and to investigate whether adult stature modifies this risk. METHODS: 1,088,980 Swedish children born at term between 1973 and 1988 were categorized into severe SGA (less than -3 standard deviations (SD) of expected birth weight), moderate SGA (-2.01 to -3 SD), mild SGA (-1.01 to -2 SD), and appropriate for gestational age (-1 to 0.99 SD)...
July 11, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28693012/stress-measured-by-allostatic-load-in-neurologically-impaired-children-the-importance-of-nutritional-status
#19
Valeria Calcaterra, Hellas Cena, Annalisa de Silvestri, Riccardo Albertini, Mara De Amici, Mario Valenza, Gloria Pelizzo
BACKGROUND: Allostatic load (AL) is the cumulative physiological wear and tear that results from repeated efforts to adapt to stressors over time. The life stress response is modified by nutritional status. AIM: We estimated AL scores among neurologically impaired (NI) children; the association with malnutrition was also evaluated. METHODS: Forty-one patients with severe disabilities were included. Data based on 15 biomarkers were used to create the AL score...
July 10, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28689203/global-application-of-the-assessment-of-communication-skills-of-paediatric-endocrinology-fellows-in-the-management-of-differences-in-sex-development-using-the-espe-e-learning-org-portal
#20
Laura J C Kranenburg, Sam T H Reerds, Martine Cools, Julie Alderson, Miriam Muscarella, Ellie Magrite, Martijn Kuiper, Shereen Abdelgaffar, Antonio Balsamo, Raja Brauner, Jean Pierre Chanoine, Asma Deeb, Patricia Fechner, Alina German, Paul Martin Holterhus, Anders Juul, Berenice B Mendonca, Kristen Neville, Anna Nordenstrom, Wilma Oostdijk, Rodolfo A Rey, Meilan M Rutter, Nalini Shah, Xiaoping Luo, Kalinka Grijpink, Stenvert L S Drop
BACKGROUND: Information sharing in chronic conditions such as disorders of/differences in sex development (DSD) is essential for a comprehensive understanding by parents and patients. We report on a qualitative analysis of communication skills of fellows undergoing training in paediatric endocrinology. Guidelines are created for the assessment of communication between health professionals and individuals with DSD and their parents. METHODS: Paediatric endocrinology fellows worldwide were invited to study two interactive online cases (www...
July 7, 2017: Hormone Research in Pædiatrics
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