Narcolepsy, Precocious Puberty and Obesity in the Pediatric Population: a Literature Review.
Authors: Maia Palhano AC, Kim LJ, Moreira GA, Santos Coelho FM, Tufik S, Levy Andersen M
Abstract
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% ...
Source: Pediatric Endocrinology Reviews - December 18, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.
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.
PMID: 30556660 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - December 18, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Meeting Report: 2018 Annual Meeting of the Pediatric Endocrine Society, Toronto, Canada, May 5-8, 2018, Selected Highlights.
Authors: Ryabets-Lienhard A, Akhtar S, Monzavi R, Austin J
Abstract
PMID: 30556661 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - December 18, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Growth Hormone Discovery and Structure.
Authors: Buchman M, Bell S, Kopchick JJ
Abstract
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. Throughout the review we present glimpses into their scientific lives as it affects the evolution of GH's story. We realize that we have not presented a comprehensive review of GH's history and its current and future status, and apologize for the omission of many individual...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
The Era of Cadaveric Pituitary Extracted Human Growth Hormone (1958-1985):Biological and Clinical Aspects.
Authors: Laron Z
Abstract
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. Collection in distilled water, freezing and extraction on columns yielding several pituitary hormones including hGH (Wilhelmi method). The purified extracts of hGH were found to have metabolic and growth stimulating activity but the limited amounts permitted the treatment on...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Gene Sequence and Production of Recombinant MetGH/hGH.
Authors: Parks JS
Abstract
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 horm...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Standardization of Growth Hormone and Insulin-like Growth Factor-I Measurement.
Authors: Katsumata N
Abstract
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. The committee also established reference values for IGF-...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Regulatory Role for Growth Hormone in Statural Growth: IGF-Dependent and IGF-Independent Effects on Growth Plate Chondrogenesis and Longitudinal Bone Growth.
Authors: De Luca F
Abstract
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. In Igf1 null mice, high circulating GH levels may be responsible for normal chondrocyte proliferation. Furthermore, tibial growth is reduced more in Ghr null mice than in Igf1 null mice, while the body of mice lacking both Ghr and Igf1 is smaller than that of mice...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Genetic Mutations in the GH/IGF Axis.
Authors: Domené S, Domené HM
Abstract
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. Combined pituitary hormone deficiency (CPHD) (a. syndromic CPHD and b. non-syndromic CPHD), 2. Isolated GH deficiency (IGHD), 3. GH insensitivity, and 4. IGF-I insensitivity. Genetic diagnosis is obtained in about 30-40% of children with growth retardation, severe ...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Pediatric Growth Hormone Deficiency (GHD) in the Recombinant Human GH (rhGH) Era.
Authors: Ranke MB
Abstract
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. Despite of this development the treatment of children and adolescents with GHD raises still issues related to the most effective and effic...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Adult Growth Hormone Deficiency: from Transition to Senescence.
Authors: Jørgensen JO, Hermansen K, Stochholm K, Juul A
Abstract
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. Frequent side eff...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Growth Hormone Therapy for Turner Syndrome.
Authors: Blunden C, Nasomyont N, Backeljauw P
Abstract
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. Short stature is cited by patients as one of their biggest burdens and may have an adverse impact on psychosocial well-being, pubertal timing, and ability to complete a variety of daily living activities. The routine use of recombinant h...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Growth Hormone Treatment for Prader-Willi Syndrome.
Authors: Tauber M, Diene G, Molinas C
Abstract
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. Recombinant hGH treatment improved linear...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Growth Hormone Treatment for Patients with Noonan Syndrome.
Authors: Gaete X, Rodríguez F, Cassorla F
Abstract
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. Our review of the literature regarding rhGH therapy in children with NS indicates that this therapy im...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Growth Hormone Treatment for Short Children Born Small for Gestational Age.
Authors: de Andre Cardoso-Demartini A, Malaquias AC, da Silva Boguszewski MC
Abstract
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 hum...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
