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Hormone Research in Pædiatrics

Jacoba J Bongers-Schokking, Wilma C M Resing, Wilma Oostdijk, Yolanda B de Rijke, Sabine M P F de Muinck Keizer-Schrama
OBJECTIVE: Congenital hypothyroidism (CH) per se, when not treated or undertreated, may lead to severe behavioural problems (cretinism), whereas overtreatment of CH seems associated with attention problems. DESIGN AND METHODS: For 55 CH patients, prospectively followed from birth until 11 years, parents rated the Child Behaviour Checklist and teachers the Teacher's Report Form at children's ages 6 and 11 years. We related scores regarding Attention, Delinquency, and Aggression (ADA scores, indicative for attention deficit hyperactivity syndrome, ADHD), and scores regarding Withdrawn, Anxious, Social, and Thought problems (WAST scores, indicative for autism) to the occurrence of over- and undertreatment in five age periods...
November 8, 2018: Hormone Research in Pædiatrics
Wassim Chemaitilly, Charles A Sklar
Endocrine complications are frequently observed in childhood cancer survivors (CCS); in many instances, these complications develop months to years after the completion of cancer therapy. The estimated prevalence of endocrine late effects is 50% among CCS; the main risk factors are external beam radiation that includes key endocrine organs (the hypothalamus/pituitary, thyroid and gonads) and/or alkylating agents. Novel agents targeting tumor growth have increased the options available to a small number of patients albeit with the need for treatment over long periods of time...
November 7, 2018: Hormone Research in Pædiatrics
Charles A Sklar, Wassim Chemaitilly
No abstract text is available yet for this article.
October 25, 2018: Hormone Research in Pædiatrics
Alan D Rogol, Lindsay Parks Pieper
This report illustrates the links between history, sport, endocrinology, and genetics to show the ways in which historical context is key to understanding the current conversations and controversies about who may compete in the female category in elite sport. The International Association of Athletics Federations (IAAF) introduced hyperandrogenemia regulations for women's competitions in 2011, followed by the International Olympic Committee (IOC) for the 2012 Olympics. The policies concern female athletes who naturally produce higher-than-average levels of testosterone and want to compete in the women's category...
October 18, 2018: Hormone Research in Pædiatrics
Lloyd J W Tack, Ellen Maris, Leendert H J Looijenga, Sabine E Hannema, Laura Audi, Birgit Köhler, Paul-Martin Holterhus, Stefan Riedl, Amy Wisniewski, Christa E Flück, Justin H Davies, Guy T Apos Sjoen, Angela K Lucas-Herald, Olcay Evliyaoglu, Nils Krone, Violeta Iotova, Otilia Marginean, Antonio Balsamo, Gilvydas Verkauskas, Naomi Weintrob, Mona Ellaithi, Anna Nordenström, Annemarie Verrijn Stuart, Kirsten B Kluivers, Katja P Wolffenbuttel, S Faisal Ahmed, Martine Cools
BACKGROUND: Complete and partial androgen insensitivity syndrome (CAIS, PAIS) are associated with an increased risk of gonadal germ cell cancer (GGCC). Recent guidelines recommend gonadectomy in women with CAIS in late adolescence. Nevertheless, many adult women prefer to retain their gonads. AIMS: This study aims to explore attitudes towards gonadectomy in AIS in centres around the world, estimate the proportion of adults with retained gonads and/or who developed GGCC, and explore reasons for declining gonadectomy...
October 18, 2018: Hormone Research in Pædiatrics
Alejandra Acosta-Gualandri, Kung-Ting Kao, Tiffany Wong, Eric Webber, Linlea Armstrong, Constadina Panagiotopoulos
BACKGROUND: Vasoactive intestinal peptide-secreting tumours (VIPomas) lead to high-volume secretory diarrhoea with hypokalaemia, as well as hyperglycaemia and hypercalcaemia. Diagnosis is often delayed. CASE DESCRIPTION: We present a 13-year-old girl with a distal pancreatic VIPoma diagnosed on her second hospital presentation who became severely hypotensive on anaesthetic induction prior to tumour removal, likely due to the vasodilatory effect of supraphysiological VIP levels...
October 16, 2018: Hormone Research in Pædiatrics
Kotb Abbass Metwalley, Hekma Saad Farghaly, Abdelrahman Abdelhamid
BACKGROUND/AIMS: Homocysteine is an important and independent risk factor for atherosclerotic diseases. The aim of this study was to evaluate serum levels of homocysteine in children with congenital adrenal hyperplasia (CAH) and their relation to carotid artery intima-media thickness (CA-IMT) and left ventricular (LV) function. METHODS: This study included 36 children with classic CAH and 36 healthy children. All underwent anthropometric evaluation. Measurement of serum levels of total homocysteine was carried out...
October 12, 2018: Hormone Research in Pædiatrics
Erdal Kurnaz, Şenay Savaş Erdeve, Semra Çetinkaya, Zehra Aycan
BACKGROUND: Under physiological conditions, proximal tubular phosphate reabsorption via NaPi-IIa (and NaPi-IIc) ensures the maintenance of phosphate homeostasis. Impairment of NaPi-IIa, encoded by SLC34A1, is associated with various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and idiopathic infantile hypercalcemia and nephrocalcinosis. METHODS: A patient was referred to our hospital due to hyponatremia, hyperkalemia, and hypophosphatemia, as well as persistent hypercalcemia after fluid therapy and sodium replacement...
September 18, 2018: Hormone Research in Pædiatrics
Mariana Costanzo, José Garcia-Feyling, Nora Saraco, Roxana Marino, Natalia Pérez Garrido, Maria Sol Touzon, Gisela Viterbo, Juan Manuel Lazzati, Hellem Carolina Patiño, Celeste Mattone, Mercedes Maceiras, Alicia Belgorosky, Gabriela Guercio
BACKGROUND: Aromatase deficiency is a rare autosomal recessive disorder. 46,XY-affected patients often remain undiagnosed until late puberty. Only 2 pediatric cases have been reported. Data on pubertal development in affected males are scarce. AIM: To report the clinical phenotype and hormonal studies of an aromatase-deficient boy during the prepubertal and early pubertal period. RESULTS: The patient was the older brother of a 46,XX girl with aromatase deficiency...
August 31, 2018: Hormone Research in Pædiatrics
Antonia Dastamani, Maria Güemes, Catherine Pitfield, Kate Morgan, Mansoor Rajab, Christof Rottenburger, Jamshed Bomanji, Paolo De Coppi, Mehul Dattani, Pratik Shah
BACKGROUND: A long-acting somatostatin analogue (lanreotide) is used in the management of a diazoxide-unresponsive diffuse form of congenital hyperinsulinism (CHI). However, no reports of its use in patients with the focal form of CHI exist. Case 1: A 1-month-old boy diagnosed with diazoxide-unresponsive CHI due to a paternal heterozygous ABCC8 gene mutation showed partial response to octreotide. 18F-DOPA-PET/CT scan revealed a focal lesion in the pancreatic head. Surgical removal of the lesion was unsuccessful...
August 16, 2018: Hormone Research in Pædiatrics
Antonia Dastamani, Neha Malhorta, Maria Güemes, Kate Morgan, Clare M Rees, Mehul Dattani, Pratik Shah
INTRODUCTION: Post-prandial hyperinsulinaemic hypoglycaemia (PPHH) is a recognized complication of various gastric surgeries in children, but rarely reported after oesophageal atresia repair. We report 2 children diagnosed with PPHH after oesophageal surgery and the challenges of their management. Case 1: A 2-year-old boy diagnosed with oesophageal atresia at birth was surgically repaired requiring 6 oesophageal dilatations in the first year of life. At 11 months of age, he manifested hypoglycaemic seizures and investigations confirmed PPHH...
August 9, 2018: Hormone Research in Pædiatrics
Kazuhiro Shimura, Hironori Shibata, Yusuke Mizuno, Naoko Amano, Ken Hoshino, Tatsuo Kuroda, Kaori Kameyama, Michiko Matsuse, Norisato Mitsutake, Kiminori Sugino, Jaeduk Yoshimura Noh, Tomonobu Hasegawa, Tomohiro Ishii
BACKGROUND: The risk factors for rapid growth and early metastasis of papillary thyroid carcinoma (PTC) and the role of coexisting Graves' disease in the clinical course of PTC remain uncertain in children. CASE DESCRIPTION: We report on a Japanese girl, whose PTC rapidly grew and metastasized within 4 years. Graves' disease was diagnosed by the presence of serum TSH receptor antibodies at 8 years of age when thyroid ultrasonography detected no nodules. After 4 years of effective treatment with thiamazole, multifocal nodules - up to 47 mm in diameter - were detected on thyroid ultrasonography...
August 9, 2018: Hormone Research in Pædiatrics
Mary Ellen Vajravelu, Morgan Congdon, Lauren Mitteer, Jamie Koh, Stephanie Givler, Justine Shults, Diva D De León
Feeding problems are frequent in infants with congenital hyperinsulinism (HI) and may be exacerbated by continuous enteral nutrition (EN) used to maintain euglycemia. Our center's HI team uses dextrose solution given continuously via gastric tube (intrasgastric dextrose, IGD) for infants not fully responsive to conventional medical therapy or pancreatectomy. Here, we describe our practice as well as growth, feeding, and adverse events in infants with HI exposed to IGD. METHODS: This was a retrospective cohort of infants with HI treated with IGD from 2009-2017...
August 7, 2018: Hormone Research in Pædiatrics
Christian L Roth, Julia von Schnurbein, Clinton Elfers, Anja Moss, Martin Wabitsch
BACKGROUND: We tested whether leptin treatment affects secretion of satiety-related gut peptides and brain-derived neurotrophic factor (BDNF), which is a regulator of energy homeostasis downstream of hypothalamic leptin signaling. METHODS: We report the case of a morbidly obese 14.7-year-old girl with a novel previously reported homozygous leptin gene mutation, in whom hormone secretion was evaluated in 30-min intervals for 10 h (07.30-17.30) to assess BDNF, insulin, glucagon-like peptide-1 (GLP-1), ghrelin, and peptide YY (PYY) secretion before as well as 11 and 46 weeks after start of metreleptin treatment...
July 11, 2018: Hormone Research in Pædiatrics
Francis de Zegher, Nele Reynaert, Lien De Somer, Carine Wouters, Mathieu Roelants
BACKGROUND: Biologicals targeting the interleukin (IL)-1β or IL-6 pathway are becoming prime choices for the treatment of children with systemic juvenile idiopathic arthritis (sJIA). Up to 1 in 3 sJIA children receiving such treatment continues to have inflammatory activity and to require supra-physiological glucocorticoid doses which may reduce growth velocity for years and may lead to an extremely short stature for age, if not for life. Currently, there is no long-term proposal to normalize the adult height of these children with sJIA...
June 25, 2018: Hormone Research in Pædiatrics
Macy T Hardley, Andrew H Chon, Jorge Mestman, Caroline T Nguyen, Mitchell E Geffner, Ramen H Chmait
BACKGROUND: Iodine is necessary for fetal thyroid development. Excess maternal intake of iodine can cause fetal hypothyroidism due to the inability to escape from the Wolff-Chaikoff effect in utero. CASE REPORT: We report a case of fetal hypothyroid goiter secondary to inadvertent excess maternal iodine ingestion from infertility supplements. The fetus was successfully treated with intra-amniotic levothyroxine injections. Serial fetal blood sampling confirmed fetal escape from the Wolff-Chaikoff effect in the mid third trimester...
May 23, 2018: Hormone Research in Pædiatrics
Ryan A Heksch, Rohan K Henry
BACKGROUND: Hashimoto thyroiditis (HT) is uncommon in infancy, and myxedema coma (MC) is even less common. While prior reports have documented these entities separately, to our knowledge, MC in combination with HT has not been reported before in this age group. METHODS/RESULTS: A 10-month-old female presented with ptosis, lethargy, dysphagia, and failure to thrive (FTT). She developed hypotension, bradycardia, hypothermia, and apnea requiring intubation. Initial thyroid-stimulating hormone was 422 μIU/mL, and free thyroxine was < 0...
May 4, 2018: Hormone Research in Pædiatrics
Philippe Klee, Mirjam Dirlewanger, Vanessa Lavallard, Valerie A McLin, Anne Mornand, Nadine Pernin, Laetitia-Marie Petit, Paola M Soccal, Barbara E Wildhaber, Urs Zumsteg, Jean-Louis Blouin, Thierry Berney, Valerie M Schwitzgebel
BACKGROUND: Cystic fibrosis-related diabetes (CFRD) is the most frequent extrapulmonary complication of cystic fibrosis (CF). METHODS: We report the first combined pancreatic islet-lung-liver transplantation in a 14-year-old adolescent. CFTR was analyzed by Sanger sequencing. Further genes were analyzed by high-throughput sequencing. RESULTS: The patient was diagnosed with CF at the age of 14 months. Nine years later, after diagnosis of CFRD, the patient's BMI and lung function began to decline...
April 18, 2018: Hormone Research in Pædiatrics
(no author information available yet)
No abstract text is available yet for this article.
2018: Hormone Research in Pædiatrics
Maarten A C Broeren, Johannes G Krabbe, Lianne S Boesten, Anita C S Hokken-Koelega, Yolanda B de Rijke
BACKGROUND: The analysis of insulin-like growth factor I (IGF-I) is an important tool for pediatricians in the diagnosis and treatment of growth hormone deficiency in children. However, significant differences exist in IGF-I assays and normative datasets, which can have important clinical consequences. METHODS: IGF-I analyses were performed using the IDS-iSYS platform on 1,897 samples from pediatric patients (0.5-18 years old). Z-scores were calculated based on normative IGF-I data from Bidlingmaier et al...
2018: Hormone Research in Pædiatrics
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