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Hormone Research in Pædiatrics

Danielle Novetsky Friedman, Emily S Tonorezos, Paul Cohen
Endocrine complications, including diabetes and metabolic syndrome, are highly prevalent in childhood cancer survivors. These metabolic derangements may contribute to survivors' risk of excess cardiovascular morbidity and premature mortality. This review summarizes existing knowledge on risk of diabetes and metabolic syndrome among childhood cancer survivors, focusing specifically on known risk factors, potential mechanisms, and screening recommendations. Early diagnosis via standardized risk-based screening can improve long-term outcomes in this population...
January 16, 2019: Hormone Research in Pædiatrics
Alessandro Cattoni, Enrico Clarke, Assunta Albanese
BACKGROUND: The literature contains conflicting reports on the value of low insulin-like growth factor 1 (IGF-1) levels in predicting radiation-induced growth hormone (GH) deficiency (GHD) in childhood cancer survivors (CCS). These reports often involve small samples of patients who have received irradiation or mixed cohorts including non-irradiated subjects. OBJECTIVE: We undertook an analysis of the predictive value of low IGF-1 in CCS at risk for GHD after cranial radiotherapy involving the hypothalamic-pituitary (HP) area in a large single-centre cohort...
January 15, 2019: Hormone Research in Pædiatrics
Diego Alberto Ramaroli, Paolo Cavarzere, Maurizio Cheli, Massimo Provenzi, Marco Barillari, Giulia Rodella, Rossella Gaudino, Franco Antoniazzi
We report a case of Gorham-Stout disease (GSD) complicated by chylothorax and treated with a combination therapy with interferon and bisphosphonates. This treatment may be helpful in improving the usually unfavorable prognosis of GSD beginning with a chylothorax before 1 year of age, and in reducing bone lesions. Moreover, the use of bisphosphonates appears to be useful in treating pain.
January 10, 2019: Hormone Research in Pædiatrics
Enver Simsek, Tulay Simsek, Makbule Eren, Evrim Yilmaz, Deniz Arik, Oguz Cilingir, Serdar Ceylaner, Koray Harmancı
BACKGROUND: The term "H syndrome" was coined to denote the major clinical findings, which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hyperglycaemia, hypogonadism, hallux flexion contractures, and short height. OBJECTIVE: To report the clinical, endocrinological, histochemical, and genetic findings of three siblings. METHODS: Skin and liver biopsies were taken to investigate the histochemical characteristics of hyperpigmented hypertrichotic skin lesions and massive hepatomegaly...
January 9, 2019: Hormone Research in Pædiatrics
Christina M Sharkey, Dana M Bakula, Cortney Wolfe-Christensen, Paul Austin, Laurence Baskin, Kerlly J Bernabé, Yee-Ming Chan, Earl Y Cheng, Alexandria M Delozier, David A Diamond, Rebecca E H Ellens, Allyson Fried, Denise Galan, Saul Greenfield, Thomas Kolon, Bradley Kropp, Yegappan Lakshmanan, Sabrina Meyer, Theresa Meyer, Natalie J Nokoff, Kristy J Scott Reyes, Blake Palmer, Dix P Poppas, Alethea Paradis, Amy Tishelman, Elizabeth B Yerkes, John M Chaney, Amy B Wisniewski, Larry L Mullins
BACKGROUND/AIMS: Parents of children born with disorders of sex development (DSD) often experience anxiety, but risk factors, including parental perception of the severity of their child's DSD, have not been examined. We hypothesized that severity of illness (SOI) ratings would relate to parental anxiety, and would be higher for parents of children with a potentially life-threatening DSD (e.g., 21-hydroxylase deficiency). METHODS: Eighty-nine parents (Mage = 33...
December 19, 2018: Hormone Research in Pædiatrics
Steven G Waguespack
The hypothalamic-pituitary-thyroid axis is a common site of unintended, acquired disease either during or after the treatment of cancer. Children treated with external radiation therapy are at the highest risk for developing a thyroid-related late effect, but thyroid dysfunction and second primary thyroid neoplasms can also occur after treatment with radiopharmaceutical agents such as 131I-metaiodobenzylguanidine. Increasingly recognized is the development of early thyroid dysfunction as an off-target consequence of the more novel cancer therapeutics such as the tyrosine kinase inhibitors and immune checkpoint inhibitors...
December 12, 2018: Hormone Research in Pædiatrics
Bibian van der Voorn, Jonneke J Hollanders, Noera Kieviet, Koert M Dolman, Yolanda B de Rijke, Elisabeth F C van Rossum, Joost Rotteveel, Adriaan Honig, Martijn J J Finken
BACKGROUND: Hair glucocorticoids (GCs) offer a retrospective view on chronic GC exposure. We assessed whether maternal pre- and postnatal stress was associated with neonatal and maternal hair GCs postpartum (pp). METHODS: On the first day pp 172 mother-infant pairs donated hair, of whom 67 had consulted a centre of expertise for psychiatric disorders during pregnancy. Maternal stress was scored on the Hospital Anxiety and Depression Scale during the first/second (n = 46), third trimester (n = 57), and pp (n = 172)...
December 12, 2018: Hormone Research in Pædiatrics
Stella A Nagel, Michaela F Hartmann, Felix G Riepe, Stefan A Wudy, Martin Wabitsch
BACKGROUND/AIMS: Mutations in the DAX1 gene cause X-linked adrenal hypoplasia congenita (AHC) classically associated with hypogonadotropic hypogonadism. Unexpectedly, precocious puberty (PP) has been reported in some cases, its mechanism remaining unclear. METHODS: We longitudinally studied a boy with AHC due to DAX1 gene mutation who developed peripheral PP at age 4.5 years. Initially he presented pubic hair, penile enlargement, advanced bone age and elevated testosterone levels...
December 11, 2018: Hormone Research in Pædiatrics
Selina Graham, John Weinman, Vivian Auyeung
BACKGROUND: Despite the developments of recombinant growth hormone (rhGH) treatment and the benefits in long-term clinical health outcomes, evidence has shown that many children with growth hormone deficiency (GHD) still fail to achieve their target adult height. Suboptimal outcomes have been largely attributed to treatment non-adherence. METHODS: A search of 11 electronic databases was undertaken to identify relevant articles, published in English, between 1985 and 2018...
December 6, 2018: Hormone Research in Pædiatrics
Ana L Creo, Lisa M Epp, Julie A Buchholtz, Peter J Tebben
BACKGROUND: Previous studies suggest normal mineral status in children receiving elemental formula. However, a recent multicenter survey described 51 children who developed hypophosphatemia and bone disease while receiving elemental formula. Our aim is to determine the prevalence of metabolic bone disease in children receiving extensively hydrolyzed or amino acid-based formula. METHODS: We established a retrospective cohort using an institutional database of tube-fed children...
November 29, 2018: Hormone Research in Pædiatrics
Peter M Wolfgram, Bhavana Narala, David T Wyatt
BACKGROUND: Variance between current American Diabetes Association (ADA) and International Society for Pediatric and Adolescent Diabetes (ISPAD) guidelines and in clinical practice exists for the use of thyroid antibody and thyroid function screening in pediatric patients with new-onset type 1 diabetes (T1D). METHODS: North American Pediatric Endocrine Society (PES) members were surveyed regarding their thyroid screening practices of euthyroid youth with T1D. An institutional analysis of the ability of antithyroid peroxidase (aTPO) and antithyroglobulin antibodies (aTG) to predict the subsequent use of levothyroxine was performed...
November 29, 2018: Hormone Research in Pædiatrics
Jin-Ho Choi, Ja Hyang Cho, Ja Hye Kim, Eun-Gyong Yoo, Gu-Hwan Kim, Han-Wook Yoo
BACKGROUND/AIMS: Syndromes of reduced sensitivity to thyroid hormone can be caused by innate resistance to thyroid hormone (RTH), thyroid hormone cell transporter defects, or thyroid hormone metabolism defects. This study was performed to describe clinical, endocrinological, and molecular characteristics of patients with disorders associated with impaired sensitivity to thyroid hormone due to THRB or SLC16A2 mutations. METHODS: This study included 5 probands (1 male and 4 females) with RTH and 6 patients with Allan-Herndon-Dudley syndrome (AHDS)...
November 29, 2018: Hormone Research in Pædiatrics
Sogol Mostoufi-Moab, Leanne M Ward
Skeletal abnormalities are common in children and adolescents diagnosed and treated for a malignancy. The spectrum ranges from mild pain to debilitating osteonecrosis and fractures. In this review, we summarize the impact of cancer therapy on the developing skeleton, provide an update on therapeutic strategies for prevention and treatment, and discuss the most recent advances in musculoskeletal research. Early recognition of skeletal abnormalities and strategies to optimize bone health are essential to prevent long-term skeletal sequelae and diminished quality of life in childhood cancer survivors...
November 27, 2018: Hormone Research in Pædiatrics
Elif Ozsu, Filiz Mine Cizmecioglu, Gul Yesiltepe Mutlu, Aysegul Bute Yuksel, Mursel Calıskan, Ahmet Yesilyurt, Sukru Hatun
BACKGROUND/AIMS: Maturity onset diabetes of the young (MODY) is a rare condition often misdiagnosed as type 1 diabetes (T1D). The purposes of this study were: to identify any patients followed in a large Turkish cohort as T1D, with an atypical natural history, who may in fact have MODY, and to define the criteria which would indicate patients with likely MODY as early as possible after presentation to allow prompt genetic testing. METHODS: Urinary C-peptide/creatinine ratio (UCPCR) was studied in 152 patients having a diagnosis of T1D for at least 3 years...
November 27, 2018: 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
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