855 results match your criteria Pediatric Endocrinology Reviews [Journal]


Meeting Report: 2018 Annual Meeting of the Pediatric Endocrine Society, Toronto, Canada, May 5-8, 2018, Selected Highlights.

Pediatr Endocrinol Rev 2018 Dec;16(2):284-293

Children's Hospital Los Angeles, 4650 Sunset Blvd, MS #61, Los Angeles, CA 90027, USA, E-mail:

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December 2018
8 Reads

Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.

Pediatr Endocrinol Rev 2018 Dec;16(2):275-283

Medical School, Mohammed VI Hospital 4806, 60049 Oujda, Morocco, E-mail:

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. Read More

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December 2018
6 Reads

Narcolepsy, Precocious Puberty and Obesity in the Pediatric Population: a Literature Review.

Pediatr Endocrinol Rev 2018 Dec;16(2):266-274

Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil, E-mail:

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. Read More

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December 2018
1 Read

Hypothyroidism in Young Children Following Exposure to Iodinated Contrast Media: An Observational Study and a Review of the Literature.

Pediatr Endocrinol Rev 2018 Dec;16(2):256-265

Maccabi Healthcare Services, Tel Aviv, Israel and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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. Read More

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December 2018
8 Reads

National Cooperative Growth Study: 25 Years of Growth Hormone Data, Insights, and Lessons for Future Registries.

Pediatr Endocrinol Rev 2018 Dec;16(2):240-255

Genentech, 1 DNA Way, MS #4F, South San Francisco, CA 94080, USA, E-mail:

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. Read More

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December 2018
4 Reads

For Debate: Paediatric T1DM: DKA is Still a Problem.

Pediatr Endocrinol Rev 2018 Dec;16(2):233-239

Hospital Universitario de Cruces, CIBERDEM, CIBERER, BIOCRUCES, Plaza Cruces s/n, 48903 Bizkaia, Spain, E-mail:

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. Read More

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December 2018
1 Read

Long-Acting Growth Hormone Preparations in the Treatment of Children.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):162-167

Division of Endocrinology, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA 3Medical Service, VA Palo Alto Health Care System, Palo Alto, California, USA.

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. Read More

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September 2018
17 Reads

Monitoring rhGH Safety: rhGH Registries, SAGhE and Future Needs.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):150-161

Oregon Health and Science University, Portland, Oregon, USA, STAT5, LLC, United States.

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. Read More

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September 2018

rhGH Abuse for Sports Performance.

Authors:
Alan D Rogol

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):142-149

Professor, Emeritus, Department of Pediatrics, University of Virginia, Charlottesville, VA, USA, E-mail:

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. Read More

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September 2018
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Psychosocial Aspects of Short Stature and rhGH Treatment: Implicit Trends over 60+ Years.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):129-141

University of Michigan, Department of Pediatrics and Communicable Diseases, Division of Pediatric Psychology and the Child Health Evaluation and Research (CHEAR) Center, Ann Arbor, MI, USA, E-mail:

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. Read More

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September 2018
4 Reads

Growth Hormone Treatment for Achondroplasia.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):123-128

Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Miyakojima, Osaka, Japan.

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. Read More

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September 2018
14 Reads

Growth Hormone Treatment for Idiopathic Short Stature.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):113-122

Maurice Paykel Research fellow in Paediatric Endocrinology, Liggins Institute, University of Auckland, New Zealand.

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. Read More

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September 2018
1 Read

Growth Hormone Treatment for Short Children Born Small for Gestational Age.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):105-112

Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil, E-mail:

Despite the difficulty to define born small for gestational age (SGA), being SGA has been associated with a higher risk of short stature, early-onset and rapid progression of puberty, neurocognitive dysfunctions, alterations in body composition, bone density, glucose and lipid metabolism and increased risk for cardiovascular diseases later in life. The majority of children born SGA experience spontaneous catch-up growth during the first years of life. For those who remain with short stature, treatment with recombinant human growth hormone (rhGH) may be initiated, preferably after 2-4 years of age. Read More

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September 2018
23 Reads

Growth Hormone Treatment for Patients with Noonan Syndrome.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):100-104

Institute of Maternal and Child Research, University of Chile, Santiago, Chile, E-mail:

Noonan syndrome (NS) is a genetic disorder, which can present clinically with a variable phenotype. Proportional post natal short stature is a common manifestation of NS, with the majority of affected patients having an adult height below the third percentile. Some investigators have reported minor abnormalities in GH secretion and/or action, suggesting that recombinant growth hormone (rhGH) therapy may be useful for the treatment of their short stature. Read More

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September 2018
6 Reads

Growth Hormone Treatment for Prader-Willi Syndrome.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):91-99

Centre de référence du syndrome de Prader-Willi, Hôpital des Enfants, CHU Toulouse, France, Axe Pédiatrique du CIC 9302/INSERM. Hôpital des Enfants, Toulouse, France, INSERM U1043, Centre de Physiopathologie de Toulouse Purpan, UPS, France.

The European Marketing Authorization for recombinant human growth hormone (rhGH) in children with Prader-Willi syndrome was the first indication for metabolic and body composition effects in children. In the US it is indicated for short stature associated with PWS. Recombinant hGH is the first treatment for the PWS population and radically changed the care of these children by facilitating access to physicians who prescribe rhGH, mainly paediatric endocrinologists, and manage the organization of multidisciplinary care. Read More

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September 2018
11 Reads

Growth Hormone Therapy for Turner Syndrome.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):80-90

Cincinnati Children's Hospital Medical Center Division of Pediatric Endocrinology.

Growth failure is nearly universal in individuals with Turner syndrome (TS). It is a consequence of haploinsufficiency of the short stature homeobox gene located on the short arm of the X chromosome (SHOX). Without treatment, individuals with TS are expected to be on average 20 cm shorter than unaffected adult females. Read More

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September 2018
11 Reads

Adult Growth Hormone Deficiency: from Transition to Senescence.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):70-79

Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

The acute metabolic actions of hGH were discovered in GH-deficient adults (GHDA) 60 years ago and placebo controlled trials of prolonged rhGH replacement therapy appeared 30 years after. Untreated GHDA causes excess morbidity and mortality from cardiovascular disease and the clinical features include fatigue, reduced aerobic exercise capacity, abdominal obesity, reduced lean body mass, osteopenia, and elevated levels of circulating cardiovascular risk biomarkers. Several of these abnormalities normalize with GH replacement. Read More

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September 2018
9 Reads

Pediatric Growth Hormone Deficiency (GHD) in the Recombinant Human GH (rhGH) Era.

Authors:
Michael B Ranke

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):63-69

Prof emeritus, Children's Hospital, University of Tübingen, Germany, E-mail:

During the phase of using hGH extracted from pituitaries (pit hGH) - 1958-1985 - fundamental experience related to the diagnosis and treatment was accumulated. However, since recombinant hGH (rhGH) had become available diagnosis and treatment of GHD were conducted world-wide in a more standardized way. Treatment with rhGH was also accompanied by documentations in large international pharmaco-epidemiological surveys, which provided new insight. Read More

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September 2018

Genetic Mutations in the GH/IGF Axis.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):39-62

Centro de Investigaciones Endocrinológicas (CEDIE-CONICET), "Dr. César Bergadá", División de Endocrinología, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina, E-mail:

The GH/IGF axis plays an important role in the control of pre and postnatal growth. At least 48 monogenic defects have been described affecting the production, secretion, and action of GH and IGFs. Molecular defects of the GH/IGF axis resulting in short stature were arbitrarily classified into 4 groups: 1. Read More

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September 2018
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Regulatory Role for Growth Hormone in Statural Growth: IGF-Dependent and IGF-Independent Effects on Growth Plate Chondrogenesis and Longitudinal Bone Growth.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):33-38

Division of Endocrinology and Diabetes, Children's Mercy Kansas City, Kansas City MO, University of Missouri School of Medicine, Kansas City, MO, USA, E-mail:

It was initially thought that the growth-promoting effects of GH were exclusively mediated by liver-derived Insulin-like Growth Factor-I (IGF-I). Subsequent studies demonstrated that GH promotes IGF-I synthesis and activity in other organs and in the growth plate. GH has also IGF-I-independent growth-promoting effects. Read More

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September 2018
5 Reads

Standardization of Growth Hormone and Insulin-like Growth Factor-I Measurement.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):28-32

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan, E-mail:

Determination of serum levels of GH and IGF-I is crucial for the diagnosis and treatment of GH deficiency and disorders related to GH excess such as acromegaly and pituitary gigantism. However, significant discrepancies in measured GH values among the methods were observed around the world. In Japan, the Study Committee for GH and Its Related Factors of The Foundation for Growth Science standardized GH values measured with various commercially available GH assay kits by creating formulas to adjust them to their averages. Read More

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September 2018
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Gene Sequence and Production of Recombinant MetGH/hGH.

Authors:
John S Parks

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):17-27

Emeritus Professor of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322, USA, E-mail:

Recombinant human growth hormones were the products of a revolution in biotechnology that took place in the San Francisco Bay area of California in the 1970's. A combination of Herb Boyer's restriction enzymes with Stanley Cohen's bacterial plasmids provided the power to select and amplify virtually any gene. The complementary personalities and talents of Herb Boyer and Robert Swanson led to formation of Genentech and with it the development of a product that overcame the limitations of scarcity and the risks of slow virus contamination inherent in extracted pituitary growth hormone. Read More

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September 2018
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The Era of Cadaveric Pituitary Extracted Human Growth Hormone (1958-1985):Biological and Clinical Aspects.

Authors:
Zvi Laron

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):11-16

Endocrinology and Diabetes Research Unit, Schneider Children's Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Israel, e-mail:

The first patient treated with cadaveric pituitary GH (hGH) was reported in 1958. Subsequently, collection of cadaveric pituitaries started in many countries and several centers extracted the hormone using one of two methods: a. Acetone preservation and extraction with hot glacial acetic acid (Rabin method) b. Read More

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September 2018
5 Reads

Growth Hormone Discovery and Structure.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):2-10

Heritage College of Osteopathic Medicine, Department of Biomedical Sciences, Ohio University, Athens, Ohio, USA, E-mail:

The purpose of this review is to describe and document the discovery of growth hormone (GH) and various activities associated with it. Crucial to this discourse will be a chronicle of results related to the structure of GH. Many individuals were instrumental in the early and current work. Read More

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September 2018
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Meeting Report: The 51st Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE), Osaka, Japan, September 28th-30th, 2017.

Pediatr Endocrinol Rev 2018 Sep;16(1):216-217

Department of Pediatrics, Nihon University, School of Medicine, Tokyo, Japan, Email:

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September 2018

Meeting Report: 2018 Annual Meeting of the Endocrine Society, Chicago IL (March 17-20, 2018), Selected Highlights.

Pediatr Endocrinol Rev 2018 Sep;16(1):209-215

Children's Hospital Los Angeles, 4650 Sunset Blvd, MS #61, Los Angeles, CA 90027, USA.

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September 2018
2 Reads

Clinical Perspectives of Mitochondrial Disorders.

Authors:
Josef Finsterer

Pediatr Endocrinol Rev 2018 Sep;16(1):203-208

Krankenanstalt Rudolfstiftung, Vienna, Austria, E-mail:

Mitochondrial disorders are increasingly recognised world-wide and represent a diagnostic and therapeutic challenge. This is due to the peculiarities of mitochondrial genetics and the extreme genotypic and phenotypic heterogeneity of these disorders. Traditional time-consuming and expensive diagnostic steps are increasingly replaced by first-line genetic approaches. Read More

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September 2018

The Management of Permanent Primary Hypoparathyroidism in Children and Adolescents: A Complex Task.

Pediatr Endocrinol Rev 2018 Sep;16(1):194-202

First Department of Paediatrics "Agia Sophia" Children's Hospital, National Kapodistrian University of Athens, Athens, Greece.

Management of hypoparathyroidism (hypoPT), depends on the etiology and the severity of hypocalcemia. Treatment goals include control of hypocalcemic symptoms preserving serum calcium in the low-normal range and phosphate in the high normal range. While correction of serum calcium to low-normal range does not fully correct mineral and bone metabolism it may be associated with increased risk of complications such as nephrolithiasis, nephrocalcinosis and soft tissue calcifications. Read More

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September 2018
4 Reads

Challenges in Prenatal Treatment with Dexamethasone.

Pediatr Endocrinol Rev 2018 Sep;16(1):186-193

Department of Anesthesiology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency causes elevated androgen levels, which can lead to virilization of female external genitalia. Prenatal dexamethasone treatment has been shown to be effective in preventing virilization of external genitalia when started prior to 7-9 weeks of gestation in females with classic CAH. However, CAH cannot be diagnosed prenatally until the end of the first trimester. Read More

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September 2018
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Is There a Difference between Ultrasonographic (US) Uterine Changes of Oral Versus Transdermal (TD) 17β Estradiol (17β E2) in Girls with Turner Syndrome (TS)? Own Experience and Literature Review.

Pediatr Endocrinol Rev 2018 Sep;16(1):178-185

Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santiago, Chile, Unit of Pediatric Endocrinology, Department of Pediatrics, Clinica Las Condes, Santiago, Chile, E-mail:

Background: Among patients with Turner Syndrome (TS), premature ovarian failure is a main feature. Recently published consensus guidelines recommend that transdermal (TD) estradiol is the preferred route for estrogen replacement. Studies related to ultrasound (US) measurements during estrogen replacement in TS patients using estradiol (17β E2) and correlating uterine growth with estrogen metabolites are limited. Read More

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September 2018
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For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome.

Pediatr Endocrinol Rev 2018 Sep;16(1):171-177

Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

Overgrowth syndromes are rare genetic disorders characterized by excessive pre- and postnatal growth accompanied by dysmorphic features and developmental disorders. In addition to other health hazards, the life expectancy of affected children may be compromised due to an increased risk of developing tumors. To demonstrate the need for early recognition, correct diagnostic evaluation and adequate follow-up, we present a family with recurrent Simpson-Golabi-Behmel syndrome (SGBS). Read More

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September 2018
10 Reads

Meeting Report: Growth and Social Environment. Proceedings of the 25th Aschauer Soiree, held at Krobielowice, Poland, November 18th 2017.

Pediatr Endocrinol Rev 2018 Apr;15(4):319-329

Aschauhof, 24340 Altenhof, Germany, E-mail: Web: www.michael-hermanussen.de.

Twenty-two scientists met at Krobielowice, Poland, to discuss the impact of the social environment, spatial proximity, migration, poverty, but also psychological factors such as body perception and satisfaction, and social stressors such as elite sports, and teenage pregnancies, on child and adolescent growth. The data analysis included linear mixed effects models with different random effects, Monte Carlo analyses, and network simulations. The work stressed the importance of the peer group, but also included historic material, some considerations about body proportions, and growth in chronic liver, and congenital heart disease. Read More

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April 2018
21 Reads

Thyroid Dimensions Using Handheld Point-of-Care (bedside) Ultrasound Scan of the Thyroid Gland in Neonates in Port Harcourt and a Review of Literature.

Pediatr Endocrinol Rev 2018 Apr;15(4):313-318

Department of Paediatrics and Child Health, College of Health Sciences, University of Port Harcourt, Nigeria.

Introduction: Handheld point-of-care (bedside) ultrasound scan machine is gaining popularity in clinical practice. Using point-of-care ultrasound scan can check the presence (anatomy) and blood flow within the thyroid gland and may be used as screening tool for CH.

Methodology: Neonates aged 0-3 days underwent ultrasound scan of the neck using a point-of-care (bedside) pocket sized GE V scan machine ® to demonstrate the thyroid dimensions and colour flow for each lobe of the gland. Read More

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April 2018
6 Reads

Gonadotropin-Releasing Hormone (GnRHa) Therapy for Central Precocious Puberty (CPP): Review of Nuances in Assessment of Height, Hormonal Suppression, Psychosocial Issues, and Weight Gain, with Patient Examples.

Pediatr Endocrinol Rev 2018 Apr;15(4):298-312

Penn State Hershey Medical Center, 500 University Drive, PO Box 850, Hershey, PA 17033, USA, E-mail:

This review suggests a central theme: that the treatment of each patient presenting with evidence consistent with central precocious puberty (CPP) needs to be individualized. This pertains to multiple factors relating to growth and growth potential, monitoring patients on treatment with gonadotropin-releasing hormone analogue (GnRHa), evaluating psychological issues with CPP and therapy, and concerns about weight gain during GnRHa therapy. Individual cases are presented. Read More

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April 2018
23 Reads

The Effects of Diuretics on Mineral and Bone Metabolism.

Authors:
Uri S Alon

Pediatr Endocrinol Rev 2018 Mar;15(4):291-297

Division of Pediatric Nephrology, Children's Mercy Hospital Kansas City, 2401 Gillham Road, Kansas City, MO, USA, E-mail:

The effects of diuretics on water and electrolyte metabolism are well-established, but less known to the clinician are their effects on bone and mineral metabolism, and in particular on that of calcium homeostasis. In general, and clinically most relevant, diuretics acting at the thick ascending limb of the loop of Henle cause loss of calcium into the urine, thus making them a useful tool in treating hypercalcemia. However the hypercalciuria caused by loop diuretics may lead to the development of urolithiasis and nephrocalcinosis, as well as secondary hyperparathyroidism and bone disease. Read More

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March 2018
7 Reads

Review of Current Care Models for Transgender Youth and Application to the Development of a Multidisciplinary Clinic - The Seattle Children's Hospital Experience.

Pediatr Endocrinol Rev 2018 Apr;15(4):280-290

Division of Adolescent Medicine, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.

Care of transgender and gender diverse youth is complex and requires a multidisciplinary approach. Many transgender patients and providers feel the limited availability of affirming, knowledgeable professionals is a barrier to obtaining care. Such care can be provided through a clinic with providers from different disciplines who are trained in the unique care of transgender youth. Read More

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http://dx.doi.org/10.17458/per.vol15.2018.sdc.TransgenderYouthDOI Listing
April 2018
22 Reads

For Debate: Personalized Health Care: As Exemplified by Home Sodium Measurements in a Child with Central Diabetes Insipidus and Impaired Thirst Perception.

Pediatr Endocrinol Rev 2018 Apr;15(4):276-279

Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.

Background: We describe a 6-year old boy with central diabetes insipidus (CDI) caused by destruction of the pituitary gland due to treatment of an optical pathway glioma. He has been treated with chemotherapy and has had several debulking operations over the past years and consequently developed central hypocortisolism, hypothyroidism and CDI. The treatment of CDI was gravely complicated by an impaired thirst perception and compulsive drinking behavior. Read More

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http://dx.doi.org/10.17458/per.vol15.2018.lho.fd.CentralDiabetesInsipidusDOI Listing
April 2018
4 Reads

Present Knowledge on the Etiology and Treatment of Adrenarche.

Pediatr Endocrinol Rev 2018 Mar;15(3):244-254

Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, USA.

Premature adrenarche (PA) has been assumed to be a benign variant of normal pubertal development. Yet, current collective information suggests associations between PA and potential risks for development of polycystic ovary syndrome and adult diseases such as the metabolic syndrome. Adrenarche refers to the increased secretion of the adrenal androgen precursors DHEA, DHEAS, and androstenedione, which normally occurs in children at age 6-8 years. Read More

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http://dx.doi.org/10.17458/per.vol15.2018.otw.etiologytreatmentadrenarcheDOI Listing
March 2018
27 Reads

Fertility Preservation in Pubertal and Pre-Pubertal Boys with Cancer.

Pediatr Endocrinol Rev 2018 Mar;15(3):234-243

Professor of Urology, Hofstra Northwell School of Medicine, Smith Institute for Urology, 900 Northern Blvd., Suite 230, Great Neck, NY 11021, USA.

Children diagnosed with cancer continue to have improved survival due to advances in effective treatment options. Increased attention is therefore now focused on quality of life issues once they are cured. Fertility preservation is of paramount concern since gonadotoxic treatments, especially radiation and chemotherapy, often impair future fertility. Read More

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http://dx.doi.org/10.17458/per.vol15.2018.jhmg.fertilitypubertalboysDOI Listing
March 2018
5 Reads

Options for Fertility Preservation in Children.

Pediatr Endocrinol Rev 2018 Mar;15(3):223-233

Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, Minnesota, USA, Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota.

Fertility preservation therapies can conserve future reproductive potential for persons facing serious medical diagnoses. With cure rates for childhood cancer reaching almost 80%, quality-of-life concerns for long-term survivors, including future parenting, are becoming more pertinent. Late effects of childhood cancer can be divided into physical, social, psychological, and spiritual domains. Read More

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http://dx.doi.org/10.17458/per.vol15.2018.jkpj.fertilitypreservationDOI Listing
March 2018
9 Reads

Prolactin - Not Only a "Milk Hormone" Prolactin - Growth Hormone Relationships with Emphasis on Cancer.

Pediatr Endocrinol Rev 2018 Mar;15(3):216-222

Endocrinology and Diabetes Research Unit, Schneider Children's Medical Center, Petach Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Prolactin (PRL) is a hormone secreted by lactotrophic cells in the anterior pituitary gland and its main function is the stimulation of lactogenesis. Research in recent years has revealed that PRL is also related to cancer development and plays a role in autoimmune diseases. PRL and Growth Hormone (GH) belong to the same cytokine family, both are, at least in part, secreted by the same somatomammotrophic cells in the anterior pituitary, and share similar signaling pathways. Read More

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http://dx.doi.org/10.17458/per.vol15.2018.fwl.prolactinrelationshipscancerDOI Listing
March 2018
2 Reads

Genetics of Primary Congenital Hypothyroidism.

Pediatr Endocrinol Rev 2018 Mar;15(3):200-215

Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

Congenital hypothyroidism (CH) is one of the most common preventable forms of mental retardation and since the implementation of neonatal screening programs in the mid-1970s, early detection and treatment have proven to be very successful in preventing brain damage. CH may be of thyroidal (= primary) or of hypothalamic-pituitary (= central) origin. Primary CH may be due to abnormal thyroid gland formation (dysgenesis) or defective thyroid hormone syntheses by a structurally normal gland (dyshormonogenesis). Read More

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http://dx.doi.org/10.17458/per.vol15.2018.zst.geneticsprimaryhypothyroidismDOI Listing
March 2018
5 Reads

For Debate: Combination Growth Hormone and Insulin-Like Growth Factor-I Therapy for Childhood Growth Disorders: Prime Time or Too Much Dime?

Pediatr Endocrinol Rev 2018 Mar;15(3):196-199

Children's Hospital Los Angeles, 4650 Sunset Blvd, Mailstop no. 61, Los Angeles, CA 90027, USA.

Although metabolic outcomes may be aided by dual therapy with GI and IGF-I, the one published study of the combination approach to treat children with non-GH-deficient short stature showed only a meager additional height response compared to that achieved with GH alone. Read More

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http://dx.doi.org/10.17458/per.vol15.2018.g.fd.combinationgrowhhormoneandinsulineDOI Listing
March 2018
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Correlation of Bone Mineral Density on Quality of Life in Patients with Osteogenesis Imperfecta during Treatment with Denosumab.

Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):123-129

Children's Hospital, University of Cologne, Germany, Cologne Centre for Musculoskeletal Biomechanics, Medical Faculty, University of Cologne, Germany.

Osteogenesis imperfecta (OI) is a rare hereditary skeletal disease leading to recurrent fractures, short stature and impaired mobility. The phenotype varies from mildly affected patients to perinatal lethal forms. In most cases an impaired collagen production due to mutations in COL1A1 or COL1A2 cause this hereditary bone fragility syndrome with an autosomal dominant inheritance. Read More

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http://dx.doi.org/10.17458/per.vol15.2017.hsf.correlationbonemineraldensityDOI Listing
November 2017
29 Reads

Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets.

Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):119-122

Otto-von-Guericke-University Magdeburg. Dept. of Paediatrics, University Magdeburg Universitätsplatz 2, 39106 Magdeburg, Germany, E-mail:

Whereas nutritional vitamin D deficient rickets affects many people world-wide, X-linked hypophosphatemic rickets (XLH, MIM 307800) has a prevalence of only 1:25.000. Like other rare diseases burden of disease in XLH and the effect of the current standard of care are inadequately described. Read More

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http://dx.doi.org/10.17458/per.vol15.2017.crb.spontaneousgrowtheffectDOI Listing
November 2017
5 Reads

Understanding, Assessing and Improving Health-Related Quality of Life of Young People with Achondroplasia- A Collaboration between a Patient Organization and Academic Medicine.

Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):109-118

University Medical Center Hamburg-Eppendorf, Department of Medical Psychology, Martinistr. 52, 20246 Hamburg, Germany.

Achondroplasia (ACH) is a rare, genetically determined health condition. Patients suffer from disproportional short stature and multiple physical and functional impairments as well as socioemotional problems. Despite the burden of disease, only few studies focus on health-related quality of life (HrQoL) of young ACH patients. Read More

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http://dx.doi.org/10.17458/per.vol15.2017.wrm.improvinghealthrelatedqualityDOI Listing
November 2017
21 Reads

Guiding Registry for Skeletal Dysplasia. Rational Approach in Classification.

Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):102-108

Central German Competence Center for Rare Diseases (MKSE) - Magdeburg, Germany, Fuchsberg 14, 76547 Sinzheim, Germany.

The official nosology and classification of genetic skeletal disorders lists more than 500 recognized diagnostic entities and groups them by clinical, radiographic and - if available - molecular data. The list helps in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists. It can be the basis of a nosology-guided skeletal dysplasia registry and archive. Read More

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http://dx.doi.org/10.17458/per.vol15.2017.zas.guidingregistryskeletaldysplasiaDOI Listing
November 2017
6 Reads

The Importance of Collaboration in Advancing Understanding of Rare Disorders: US/EU Joint Initiative on Silver-Russell Syndrome.

Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):98-101

Icahn School of Medicine at Mount Sinai, Department of Pediatrics, 1 Gustave L. Levy Pl, New York, New York 10029, USA.

Patient-support organizations can facilitate a significant change in the way rare disorders are approached. Besides connecting families with each other and directing patients to experienced medical specialists, these groups, by collaborating with government initiatives like COST, can effect the direction and funding of rare disease research. By concentrating the rare disease patient population and funneling them to specific centers of excellence, these organizations help build specialists' experience and their study populations. Read More

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http://dx.doi.org/10.17458/per.vol15.2017.snh.importancecollaborationadvancingDOI Listing
November 2017
12 Reads

The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations.

Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):92-97

Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.

Pseudohypoparathyroidism is a rare endocrine disorder with an estimated prevalence of 1/100,000. It is characterized by hypocalcemia and hyperphosphatemia in the absence of vitamin D deficiency or impaired renal function. Research studies during the last 20 years have led to the identification of the molecular underlying cause of the disease, the characterization of the clinical and biochemical characteristics and the observation of an overlap between genetic and clinical manifestations. Read More

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http://dx.doi.org/10.17458/per.vol15.2017.lmg.pseudohypoparathyroidismDOI Listing
November 2017
19 Reads