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Pediatric Endocrinology Reviews: PER

Charles T Roberts, Kevin Cj Yuen
No abstract text is available yet for this article.
March 2019: Pediatric Endocrinology Reviews: PER
Duran Canatan, Vincenzo De Sanctis, Joan-Lluis Vives Corrons, Suheyla Gorar, Doga Turkkahraman, Riza Taner Baran, Erdal Kurtoglu, Vedat Aslan, Funda Tayfun Kupesiz, Zehra Diyar Tamburaci Uslu, Zekiye Ozdemir, Ozlem Erinekci
Major difficulties reported by endocrinologists /pediatricians/ hematologists in the care of thalassemic patients with endocrine complications were: lack of facilities, correct interpretation of tests, unfamiliarity with medical treatment and the cost of diagnostics and therapeutics. Therefore, there is a felt need to educate and train more endocrinologists/pediatricians/hematologists in this field in order to optimise growth and prevent endocrine complications. To achieve this goal, in 2015, a project called Equality was submitted by three countries (Turkey, Spain and Italy) and approved by the European Union (EU) with the aim to train doctors and nurses, taking care of youth and young adults TM patients, in the prevention, diagnosis, and management of endocrine disorders...
March 2019: Pediatric Endocrinology Reviews: PER
Michael Hermanussen, Aman B Pulungan, Christiane Scheffler, Rebekka Mumm, Alan D Rogol, Raluca Pop, James M Swanson, Edmund Sonuga-Barke, Anna Reimann, Anna Siniarska-Wolanska, Martin Musalek, Barry Bogin, Jesper L Boldsen, P G Vincent Tassenaar, Detlef Groth, Yuk-Chien Liu, Christof Meigen, Björn Quanjer, Kristina Thompson, Başak Koca Özer, Ewa Bryl, Paula Mamrot, Tomasz Hanć, Slawomir Koziel, Jani Söderhäll, Aleksandra Gomula, Sudip Datta Banik, Mathieu Roelants, Gudrun Veldre, Leslie Sue Lieberman, Lynnette Leidy Sievert
Thirty-one scientists met at Aschauhof, Germany to discuss the role of beliefs and self-perception on body size. In view of apparent growth stimulatory effects of dominance within the social group that is observed in social mammals, they discussed various aspects of competitive growth strategies and growth adjustments. Presentations included new data from Indonesia, a cohort-based prospective study from Merida, Yucatan, and evidence from recent meta-analyses and patterns of growth in the socially deprived. The effects of stress experienced during pregnancy and adverse childhood events were discussed, as well as obesity in school children, with emphasis on problems when using z-scores in extremely obese children...
March 2019: Pediatric Endocrinology Reviews: PER
M J Schleedoorn, van Alfen van der Velden, Ddm Braat, R Peek, K Fleischer
Introduction Infertility is a major concern for females with Turner syndrome (TS), regardless of their age. While fertility preservation is now routinely offered to girls and young women with cancer, there are currently no recommendations on fertility preservation in girls and young women with TS who generally face an even higher risk for infertility. Despite the lack of international guidelines, preservation procedures have been performed experimentally in females with TS. Methods A systematic literature search based on the PRISMA-P methodology for systematic reviews was performed in order to collect all published data on fertility preservation options in females with TS between January 1980 and April 2018...
March 2019: Pediatric Endocrinology Reviews: PER
Brittany S Bruggeman, Desmond A Schatz
Due to well-designed studies of birth cohorts and at-risk individuals, our understanding of the natural history of pre- and early type 1 diabetes (T1D) has advanced considerably over the past decade. Genetic risk scores can predict with increasing precision and accuracy who is at risk for T1D, and early staging based upon islet autoantibody status allows for improved mechanistic and natural history studies as well as improved clinical trial design. A growing number of children are being diagnosed with islet autoimmunity prior to the onset of symptoms, and confusion remains surrounding their proper management...
March 2019: Pediatric Endocrinology Reviews: PER
Adam Adamidis, Sena Cantas-Orsdemir, Anna Tsirka, Mary-Alice Abbott, Paul Visintainer, Ksenia Tonyushkina
Apparent mineralocorticoid excess (AME) is a rare inherited disorder caused by pathogenic variants in the 11β-HSD2 gene resulting in a deficiency of the 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) enzyme catalyzing the conversion of cortisol to its inactive metabolite, cortisone. Impaired cortisol metabolism results in a mineralocorticoid excess-like state presenting as low renin, low aldosterone hypertension (HTN) and hypokalemia. Typically, AME is diagnosed in early childhood. Medical treatment to control HTN and hypokalemia often is only partially successful...
March 2019: Pediatric Endocrinology Reviews: PER
Yevgeniya Kushchayeva, Marissa Lightbourne, Maya Lodish, Constantine A Stratakis
Many hereditary and sporadic tumor and other syndromes are associated with endocrine functional and or structural abnormalities. The last few decades have yielded advancements in the field with improvements in diagnostic testing, screening guidelines and novel treatment options. In general, endocrine functional abnormalities and neoplasms share an early age of onset. There remains room for improvement as limited literature exists regarding clinical course, prognosis, and screening for earlier cancer detection...
March 2019: Pediatric Endocrinology Reviews: PER
Masanobu Kawai
Selenium (Se) is an essential trace element involved in numerous biological processes including the antioxidant defense system and thyroid hormone metabolism. Since the content of Se in the body is highly dependent on that in the environment, Se deficiency rarely occurs in individuals living in areas rich in Se; with the exception of preterm infants and patients nourished exclusively with parenteral and enteral nutrition (PN and EN) without Se supplementation. Severe Se deficiency causes increases in T4 levels associated with decreases in T3 levels due to the blockage of the conversion of T4 to T3...
March 2019: Pediatric Endocrinology Reviews: PER
Anna Ryabets-Lienhard, Sara Akhtar, Roshanak Monzavi, Juliana Austin
No abstract text is available yet for this article.
December 2018: Pediatric Endocrinology Reviews: PER
Khadija Boujtat, Siham Rouf, Imane Boutahar, Imane Skiker, Mariam Tajir, Hanane Latrech
Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. To our knowledge, this association has been previously reported in 3 patients in the literature...
December 2018: Pediatric Endocrinology Reviews: PER
Ana Clara Maia Palhano, Lenise Jihe Kim, Gustavo A Moreira, Fernando Morgadinho Santos Coelho, Sergio Tufik, Monica Levy Andersen
Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness, cataplexy, sleep paralysis and hypnagogic and hypnopompic hallucinations. The onset of the symptoms usually occurs in childhood, and previous studies have reported an association between narcolepsy and other endocrine diseases in the pediatric population, such as obesity and precocious puberty. The incidence of overweight or obesity ranges from 25% to 74% in patients with narcolepsy type I, while precocious puberty is present in 17% of children with narcolepsy with cataplexy...
December 2018: Pediatric Endocrinology Reviews: PER
Vered Rosenberg, Alexander Michel, Gabriel Chodick, Yingkai Cheng, Petra Palkowitsch, Gideon Koren, Varda Shalev
While it is well documented that exposure to iodinated contrast media (ICM) can interfere with thyroid function in adults, much less is known about the incidence and risk factors associated with ICM induced hypothyroidism in young children. Using a computerized database we identified 843 children who were exposed to ICM between 1998 and 2015. The incidence rate of ICM induced hypothyroidism per 1000 person-years was 9.66 (95% CI: 4.17-19.04). When compared to the rest of the cohort, children with hypothyroidism were more likely to be younger, weigh less and to have undergone cardio-angiography...
December 2018: Pediatric Endocrinology Reviews: PER
Jennifer J Bell, Barbara Lippe, Alicia A Romano, Joseph T Cernich, Rita D Swinford, Dalia Moawad
BACKGROUND: The National Cooperative Growth Study (NCGS) data are reviewed from 1985-2010 to report on final demographic, efficacy, and safety findings, and to illustrate the value of long-term, real-world follow-up to physicians and patients. METHODS: The NCGS was a multicenter, open-label, observational, postmarketing surveillance study of Genentech growth hormone (GH) products for the treatment of children with growth failure in North America. FINDINGS: Data from 65,205 patients representing 240,951 patient-years of experience were collected...
December 2018: Pediatric Endocrinology Reviews: PER
Elena Martínez, Nancy Portillo, Eneritz Lizarralde, Gema Grau, Amaia Vela, Amaia Rodríguez, Itxaso Rica
Although the treatment of pediatric patients with T1DM has improved ketoacidosis (DKA) remains a frequent problem. OBJECTIVE: To estimate temporal changes in the prevalence of DKA at diagnosis of T1DM and to explore the factors associated with its occurrence. METHODS: Paediatric patients diagnosed at Cruces University Hospital (Spain) since 1997 were included. Clinical/analytical variables at diabetes onset, Hemoglobin A1c level during the first 2 years of evolution and the presence of the honeymoon phase were studied...
December 2018: Pediatric Endocrinology Reviews: PER
Rayhan A Lal, Andrew R Hoffman
Human growth hormone (hGH), which had been in use since 1958, was supplanted by recombinant human growth hormone (rhGH) in 1985 for those with growth hormone deficiency (GHD). Adherence to daily subcutaneous growth hormone is challenging for patients. Thus, several companies have pursued the creation of long acting rhGH. These agents can be divided broadly into depot formulations, PEGylated formulations, pro-drug formulations, non-covalent albumin binding GH and GH fusion proteins. Nutropin Depot is the only long acting rhGH ever approved by the U...
September 2018: Pediatric Endocrinology Reviews: PER
Bradley S Miller, Ron G Rosenfeld
The safety of growth hormone (GH) therapy in children has been studied extensively. The identification of Creutzfeldt-Jacob disease in individuals who received pituitary-derived GH led to heightened surveillance for safety issues related to recombinant human GH (rhGH). An excellent safety profile of rhGH has been demonstrated in large Phase IV registries comprising > 600,000 patient-years of rhGH exposure and long-term safety cohorts of adults treated with GH as children. Increased mortality risk has been reported but eliminated when corrected for small size at birth...
September 2018: Pediatric Endocrinology Reviews: PER
Alan D Rogol
Doping is at least as old as the ancient Olympics. Substances taken to improve athletic performance ranged from stimulants to hallucinogenic plant substances, but more recently include anabolic agents. Recombinant human growth hormone, rhGH, is one agent with a relatively short history of use, but few data to unequivocally show that it actually improves performance. However, rhGH has therapeutic use for those GH deficient and the concept of a therapeutic use exemption for those with documented deficiency is outlined along with doping control methods...
September 2018: Pediatric Endocrinology Reviews: PER
Melissa Gardner, Teresa Scerbak, David E Sandberg
Between 1958 and today, advances in research and the clinical management of short stature with GH have occurred. Initially, limited supply of pituitary-derived hGH led to strict criteria for diagnosing GH deficiency and tightly controlled treatment protocols. With the advent of biosynthetic GH, the supply has increased, the number of indications for treatment has grown, and the focus of intervention changed from hormone replacement to treatment of short stature. Improved psychosocial adaptation is an underlying, albeit largely unspoken and inadequately researched, target of treatment...
September 2018: Pediatric Endocrinology Reviews: PER
Tohru Yorifuji, Shinji Higuchi, Rie Kawakita
Achondroplasia (ACH) is the most common form of skeletal dysplasia causing rhizomelic, short-limb short stature. Short- and long-term clinical trials have been conducted with rhGH, with similar results across these studies. At supraphysiological dose of GH, height gain of 1-1.5 SDS on the population curve was observed during the first 1-3 years, which was then followed by a smaller increase in growth rate persisting for 5-6 years. These studies led to the approval of rhGH for ACH in Japan where rhGH has been used for 20 years at 0...
September 2018: Pediatric Endocrinology Reviews: PER
Wayne S Cutfield, Benjamin B Albert
ISS is the commonest cause of short stature and poor growth and is arbitrarily defined as a height < -2 SDS without an identified cause. ISS consists largely of normal children with the remainder unrecognised conditions, mainly syndromes and genetic (monogenic and polygenic) causes. Growth response to rhGH is widely variable reflecting the heterogeneity of ISS. Further identification of genetic causes of ISS will better characterise treatment response. rhGH during childhood has been shown in RCTs to improve adult height by approximately 4 cm which is less than seen in other treated growth disorders...
September 2018: Pediatric Endocrinology Reviews: PER
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