Pathogenesis of Growth Failure in Rasopathies.
Authors: Aftab S, Dattani MT
Abstract
The RASopathies are a group of developmental genetic syndromes that are caused by germline mutations in genes encoding proteins of the Ras-Mitogen-Activated Protein kinase (RAS-MAPK) pathway. RASopathies include Noonan Syndrome (NS), Neurofibromatosis Type 1 (NF1), Noonan syndrome with multiple lentigines (NSML/LEOPARD), Costello syndrome (CS), Cardio-facio-cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM) and Legius Syndrome. These syndromes have many overlapping features; however, the most persistent feature common to all i...
Source: Pediatric Endocrinology Reviews - May 24, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Growth and Growth Hormone Treatment in Noonan Syndrome.
Authors: Romano AA
Abstract
Short stature is a common characteristic of Noonan Syndrome (NS), a genetic condition caused by mutations affecting the RAS / mitogen-activated protein kinase (MAPK) cascade. Growth hormone (GH) has been used to normalize childhood growth and increase adult height in NS. GH is effective in increasing growth velocity, and significantly improves height SDS at adult height. Studies of GH treatment to adult height have shown height gains of 9.5-13.0 cm for males and 9.0 - 9.8 cm for females. Factors associated with improved height outcomes are earlier initiation of therapy, a greate...
Source: Pediatric Endocrinology Reviews - May 24, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Endocrine Complications of Noonan Syndrome beyond Short Stature.
Authors: Venugopal V, Romero CJ
Abstract
Noonan syndrome (NS) is a diagnosis that is made clinically based on features including typical facies, congenital heart defects, short stature and developmental delay. Approximately 50% of the patients have identified mutations in the PTPN11 gene, and a smaller percentage of mutations have been reported in other genes such as SOS1, RAF1 and RIT1 Despite normal birth length, patients typically reach adult height below normal. Other than growth, endocrine complications of NS are not as commonly reported. These include possible pathology in thyroid function, pubertal ...
Source: Pediatric Endocrinology Reviews - May 24, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Cardiac Manifestations of Noonan Syndrome.
Authors: Karnik R, Geiger M
Abstract
Noonan syndrome NS, a RASopathy, is commonly seen in association with cardiovascular abnormalities, with structural defects and/or cardiomyopathy present in 80-90-% of cases. Though a wide spectrum of cardiac pathology has been reported, pulmonary stenosis is the most common structural abnormality and more likely to be seen in PTPN11 mutations. Hypertrophic cardiomyopathy is the second most common and is more often associated with RAF1 mutations. Cardiac disease tends to be more progressive in infants and children with NS and therefore close cardiology follow-up is indi...
Source: Pediatric Endocrinology Reviews - May 24, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
For Debate: When is Selenium Deficiency Suspected and When is Its Measurement Indicated?
Authors: Kawai M
Abstract
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 conve...
Source: Pediatric Endocrinology Reviews - March 21, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Genetic Tumor Syndromes with Endocrine Involvement: A Compendium and an Update.
Authors: Kushchayeva Y, Lightbourne M, Lodish M, Stratakis CA
Abstract
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. This should allow for more...
Source: Pediatric Endocrinology Reviews - March 21, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11 β-HSD2 Gene and Systematic Review of the Literature.
Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature.
Pediatr Endocrinol Rev. 2019 Mar;16(3):335-358
Authors: Adamidis A, Cantas-Orsdemir S, Tsirka A, Abbott MA, Visintainer P, Tonyushkina K
Abstract
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...
Source: Pediatric Endocrinology Reviews - March 21, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Enhanced Understanding of the Natural History of Pre-Type 1 Diabetes: Fundamental to Prevention.
Authors: Bruggeman BS, Schatz DA
Abstract
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...
Source: Pediatric Endocrinology Reviews - March 21, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
To Freeze or Not to Freeze? An Update on Fertility Preservation In Females with Turner Syndrome.
Conclusion The efficacy of fertility preservation procedures in females with TS is still unknown. Future studies with focus on efficacy, safety and long-term follow-up are desperately needed.
PMID: 30888127 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - March 21, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Meeting Report: The Role of Beliefs and Perception on Body Size. Proceedings of the 26th Aschauer Soiree, Held at Aschauhof, Altenhof, Germany, May 26th, 2018.
Authors: Hermanussen M, Pulungan AB, Scheffler C, Mumm R, Rogol AD, Pop R, Swanson JM, Sonuga-Barke E, Reimann A, Siniarska-Wolanska A, Musalek M, Bogin B, Boldsen JL, Tassenaar PGV, Groth D, Liu YC, Meigen C, Quanjer B, Thompson K, Özer BK, Bryl E, Mamrot P, Hanć T, Koziel S, Söderhäll J, Gomula A, Banik SD, Roelants M, Veldre G, Lieberman LS, Sievert LL
Abstract
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 disc...
Source: Pediatric Endocrinology Reviews - March 21, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Meeting Report: The Equality Project on Endocrine Complications in Thalassemia: Selected Highlights from the First Turkish Congress, Antalya, 10th-11th December 2018.
Authors: Canatan D, De Sanctis V, Corrons JV, Gorar S, Turkkahraman D, Baran RT, Kurtoglu E, Aslan V, Kupesiz FT, Tamburaci Uslu ZD, Ozdemir Z, Erinekci O
Abstract
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 endocri...
Source: Pediatric Endocrinology Reviews - March 21, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Meeting Report: Report on the 9th International Congress of the Growth Hormone Research and IGF Societies, September 14-17, 2018, in Seattle, Washington, USA.
Authors: Roberts CT, Yuen KC
PMID: 30888130 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - March 21, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
For Debate: Paediatric T1DM: DKA is Still a Problem.
CONCLUSION: The frequency of DKA although stable, remains high and is associated with a worse evolution of the disease.
PMID: 30556656 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - December 18, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
National Cooperative Growth Study: 25 Years of Growth Hormone Data, Insights, and Lessons for Future Registries.
CONCLUSIONS: Twenty-five years of monitoring GH use through the NCGS yielded extensive insight into the utility of GH in various underlying etiologies. Demographic disparities were clear and became evident by analyzing data collected through the registry.
PMID: 30556657 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - December 18, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Hypothyroidism in Young Children Following Exposure to Iodinated Contrast Media: An Observational Study and a Review of the Literature.
Authors: Rosenberg V, Michel A, Chodick G, Cheng Y, Palkowitsch P, Koren G, Shalev V
Abstract
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 we...
Source: Pediatric Endocrinology Reviews - December 18, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
