The Discovery and Structure of Human Insulin.
Authors: Zimmerman C, Forlenza G, Schatz D Abstract The isolation and purification of insulin nearly 100 years ago has been one of the most ground-breaking discoveries in the history of medicine. Subsequent determination of the specific structure of human insulin has permitted further developments and modifications of the formulations of insulin to allow improved quality of care and quality of life for patients with diabetes. In this paper, we will review insulin structure and biosynthesis, treatment and prognosis of type 1 diabetes prior to insulin therapy, experimentation leading to the discovery of insulin, and ...
Source: Pediatric Endocrinology Reviews - March 27, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Eli Lilly and Company Insulins - A Century of Innovation.
Authors: Malone JK, Anderson JHJ, Wolpert HA, Ilag LL, Frank BH, De Felippis MR, Paavola CD, Orr AL, Beals JM Abstract Eli Lilly and Company has played a pivotal role in the development of insulin products since its discovery in 1921. Through their dedication to pharmaceutical innovation, Josiah K. Lilly Sr. and George HA Clowes, in close collaborations with the University of Toronto, made insulin commercially available in 1923. Other innovations include the development and commercialization of the first biosynthetic human insulin, a rapid-acting insulin analog and analog mixtures. Lilly has advanced the field of k...
Source: Pediatric Endocrinology Reviews - March 27, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Nearly a Century of Insulin at Sanofi: Looking Back Over the Decades of Production and Development.
Authors: Bosnyak Z, Korn M, Bielohuby M, Wohlfart P, Tennagels N Abstract Almost a century ago, the first insulin was produced by Banting, Best, MacLeod and Collip in Toronto, thereby enabling life-saving treatment for people with diabetes. Since then, there have been many advancements in insulin production and development of new insulin analogues. In this article, we reflect on the rich heritage of Sanofi and its predecessor, Hoechst, in insulin production and development, from being one of the first companies to produce insulin in Europe in 1923, to modern-day insulin analogues and integrated care solutions at pr...
Source: Pediatric Endocrinology Reviews - March 27, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Decision Support Systems for Insulin Treatment Adjustment in People with Type 1 Diabetes.
Authors: Nimri R Abstract For people with type 1 diabetes, achieving optimal glycemic control requires use of intensive insulin therapy. To achieve this goal individuals are required to become proficient in accurately determining the appropriate amount of insulin needed to address a variety of situations throughout the day while considering numerous influencing factors. They also need to perform multiple tasks a day such as counting carbohydrates to accurately determine the required premeal bolus. There is also a need to periodically adjust insulin dosing as insulin sensitivity varies considerably over time. Sophis...
Source: Pediatric Endocrinology Reviews - March 27, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Insulin Adverse Events.
Authors: Ludvigsson J Abstract The negative consequencies of diabetes treatment are traditionally regarded as caused by a disastrous treatment rather than adverse events of the insulin preparations. However, hypoglycemia, changes at the injection site (lipatrophy, lipoma), insulin allergy, obesity and increased risk of certain forms of cancer can easily be regarded as adverse events of the drug, and needle-phobia, psychological problems, increased risk of suicide are adverse events related to insulin and its administration. Also macroangiopathy and even microangiopathy to some extent can be regarded as adverse even...
Source: Pediatric Endocrinology Reviews - March 27, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Insulin: A Growth Hormone and Potential Oncogene.
Authors: Laron Z, Werner H Abstract Both in vitro and in vivo experimental studies proved that insulin has an important anabolic role. This physiological function of insulin is reflected in its well documented involvement in protein metabolism and in acceleration of cell proliferation. Support for a growth promoting action of insulin is further provided by clinical studies that revealed that children with hypoinsulinemia have a decreased growth rate whereas, on the other hand, children with hyperinsulinemia have an accelerated growth. While it was initially assumed that the growth activities of insulin are facilita...
Source: Pediatric Endocrinology Reviews - March 27, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Update on Worldwide Trends in Occurrence of Childhood Type 1 Diabetes in 2020.
Authors: Tuomilehto J, Ogle GD, Lund-Blix NA, Stene LC Abstract Epidemiological data on pediatric type 1 diabetes (T1D), mainly incidence, have become increasingly available since the second half of the 20th century. Comparative incidence data across populations were only obtained since the 1980s. The 2019 IDF Atlas provides T1D incidence, prevalence and mortality estimates for children
Source: Pediatric Endocrinology Reviews - March 27, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Global Inequality in Type 1 Diabetes: a Comparison of Switzerland and Low-and Middle-Income Countries.
Authors: Marque NA, Lazo-Porras M, Schwitzgebel V, Castellsague M, Cimarelli G, Dirlewanger M, Klee P, Perrenoud L, Beran D Abstract Globally it is estimated that over 1 million children and adolescents have Type 1 diabetes with large variations in incidence between different contexts. Health systems need to provide a variety of elements to ensure appropriate diabetes care, such as service delivery; healthcare workforce; information; medical products and technologies; financing and leadership and governance. Describing these elements between Geneva, Switzerland, a high-income country with high spending on healthcar...
Source: Pediatric Endocrinology Reviews - March 27, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

History of Insulin Treatment in Children and Adolescents with Diabetes in Japan.
Authors: Urakami T Abstract For the increasing number of type 1 diabetes in Japan, after 1960, a greater supply of insulin was required, accordingly the availability of insulin gradually improved, The National Health Insurance approved self-injections of insulin at home in 1981. Afterwards, intensive insulin treatment with short-acting insulin and intermediate-acting insulin became widely used. Recombinant rapid-acting insulin analog was introduced in 1986 and long-acting insulin analog was introduced in 2003. In recent years, basal-bolus insulin regimens using these insulin analogs have become popular in children ...
Source: Pediatric Endocrinology Reviews - March 27, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

For Debate: Programing of the Autoimmune Diabetogenic Response in the Thymus during Fetal and Perinatal Life.
Authors: Geenen V, Hober D PMID: 31763800 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - November 27, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Osteoclasts in Health and Disease.
Authors: Lerner UH Abstract Osteoclasts are multinucleated, giant cells originating from myeloid hematopoetic stem cells. These are the only cells in nature which can resorb bone. Differentiation of mononucleated osteoclast progenitor cells requires stimulation with M-CSF (macrophage colony-stimulating factor) for the cells to proliferate and survive and with RANKL (receptor activator of nuclear factor kappa B ligand) for differentiation along the osteoclastic lineage to cells which eventually fuse to the mature, multinucleated osteoclasts. Therefore, most hormones and cytokines stimulating osteoclastogenesis do so...
Source: Pediatric Endocrinology Reviews - November 27, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Pediatric Cushing Syndrome; an Overview.
Authors: Tatsi C, Stratakis CA Abstract Endogenous Cushing syndrome (CS) is a rare entity in the pediatric population. Patients usually present with height deceleration and continuous weight gain, along with other classic stigmata of CS, such as acne, striae, hirsutism and others. The diagnosis of CS involves documentation of abnormal cortisol secretion with measurement of urinary free cortisol and midnight serum or salivary cortisol, and the use of the 1mg dexamethasone suppression test. After confirmation of CS, localization of the source of hypercortisolemia, involves differentiation of ACTH-dependent versus ACT...
Source: Pediatric Endocrinology Reviews - November 27, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.
Authors: Kilberg MJ, McLoughlin M, Pyle LC, Vogiatzi MG Abstract Ovotesticular Differences in Sexual Development (OT-DSD) is a rare subset of DSD with great phenotypic variability characterized by the presence of both testicular and ovarian tissue in the same individual. Here, we describe the case of 46,XX, SRY-negative baby with ambiguous genitalia and ovotestis discovered during laparoscopy. As the family decided on female gender of rearing, the testicular component of the ovotestis was removed while the ovarian component was preserved. Stemming from this case, we review the clinical presentation of OT-DSD throug...
Source: Pediatric Endocrinology Reviews - November 27, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Primary School Performance of Girls with Turner Syndrome: A Transcultural Assessment.
CONCLUSION: Excluding results in Mathematics, which showed pronounced worsening in relation to age in comparison with unaffected controls, girls with TS performed similarly to their controls. PMID: 31763804 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - November 27, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Emerging Mechanisms of GH-Induced Lipolysis and Insulin Resistance.
Authors: Sharma VM Abstract Growth hormone (GH) is a pleiotropic hormone that coordinates an array of physiological processes including growth and metabolism. GH promotes anabolic action in all tissues except adipose, where it catabolizes stored fat to release energy for the promotion of growth in other tissues. However, chronic stimulation of lipolysis by GH results in an increased flux of free fatty acids (FFAs) into systemic circulation. Hence, a sustained release of high levels of GH contributes significantly to the development of insulin resistance by antagonizing the anti-lipolytic action of insulin. The mole...
Source: Pediatric Endocrinology Reviews - October 12, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

FGF23 and Associated Disorders of Phosphate Wasting.
Authors: Gohil A, Imel EA Abstract Fibroblast growth factor 23 (FGF23), one of the endocrine fibroblast growth factors, is a principal regulator in the maintenance of serum phosphorus concentration. Binding to its cofactor αKlotho and a fibroblast growth factor receptor is essential for its activity. Its regulation and interaction with other factors in the bone-parathyroid-kidney axis is complex. FGF23 reduces serum phosphorus concentration through decreased reabsorption of phosphorus in the kidney and by decreasing 1,25 dihydroxyvitamin D (1,25(OH)2D) concentrations. Various FGF23-mediated disorders of renal...
Source: Pediatric Endocrinology Reviews - October 12, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Are We Aware that Hyperphosphatemia Affects Mortality and Morbidity as much as Hypophosphatemia in Pediatric Intensive Care Patients?
CONCLUSION: In our study, we identified that hyperphosphatemia is a serious problem as hypophosphatemia for patients who admitted to the PICU. Patients identified to be hyperphosphatemic on admission had a significantly higher PELOD score. The significant difference of hyperphosphatemia in terms of PELOD score is one of the important points shown in our study. It should not be forgotten that like hypophosphatemia, hyperphosphatemia may cause serious problems in pediatric intensive care patients. PMID: 31599134 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - October 12, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Growth Hormone Deficiency and Excessive Sleepiness: A Case Report and Review of the Literature.
Authors: Gohil A, Eugster E Abstract The somatotropic axis is intricately involved in normal sleep, as evidenced by the fact that hypothalamic growth hormone-releasing hormone (GHRH) has sleep promoting effects and pituitary growth hormone (GH) release is strongly associated with slow-wave sleep (SWS). Abnormalities in the somatotropic axis, such as GH deficiency of hypothalamic or pituitary origin, result in an alteration of normal sleep patterns which may explain the fatigue reported in these individuals. Sleep disorders such as narcolepsy, in which individuals abnormally enter rapid eye movement (REM) sleep at s...
Source: Pediatric Endocrinology Reviews - October 12, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Letter to the Editor: Central Nervous System Complications in Diabetic Ketoacidosis.
Authors: Baszyńska-Wilk M, Wysocka-Mincewicz M, Wajda-Cuszlag M, Świercz A, Szalecki M PMID: 31599136 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - October 12, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Meeting Report: 2019 Annual Meeting of the Pediatric Endocrine Society: Selected Highlights Baltimore, MD, April 26-29, 2019.
Authors: Guiffre D, Kim G, Gupta MB PMID: 31599137 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - October 12, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

For Debate: Testicular Volume Development along Ages: Evaluation by Different Methods.
Authors: De Sanctis V, Soliman AT, Di Maio S, Millimaggi G, Kattamis C Abstract In the last five decades an increasing number of studies and clinical reports demonstrated the importance of testicular volume assessment in pediatric and adolescent population. Reliable and accurate determination of testicular volume (TV) through infancy and adolescence is of great importance for assessing normal pubertal development to diagnose disturbances in development and to suspect certain genetic and endocrine diseases. Various approaches are available for the assessment of TV, including orchidometry, rulers, callipers, and ultr...
Source: Pediatric Endocrinology Reviews - June 29, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Karyotype - Phenotype Associations in Patients with Turner Syndrome.
This study was part of the European multicentre dsd-LIFE study. We evaluated the associations between different karyotypes of TS patients and age at diagnosis, Turner stigmata, cardiac/renal involvement and gonadal function. Information was available for 328 TS patients. Participants had a monosomy 45,X (46%), mosaicism 45,X/46,XX (10%), karyotype with isochromosome (18%), or other karyotype (26%). The clinical signs of TS were the most severe in patients with monosomy 45,X and the least severe in patients with mosaicism 45,X/46,XX. Patients with isochromosome and y-material showed an intermediate phenotype. Despite the mo...
Source: Pediatric Endocrinology Reviews - June 29, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Sleep Disorders and Obesity in Childhood: A New Component in Solving Obesity.
Authors: Atar M, Pirgon Ö, Buyukgebiz A Abstract Sleep disorders have been widely reported in obese individuals. Previous studies have shown that together with an increase in obesity prevalence, so does sleep duration in children and adolescents decrease. By contributing to energy imbalances, hormonal changes occurring with reduced sleep quality may cause weight gain and obesity. Current evidence shows that short sleep duration has effects on body weight and weight gain. Compared to individuals sleeping for a normal duration, insulin sensitivity is lower in those who sleep less. Lack of sleep increases the des...
Source: Pediatric Endocrinology Reviews - June 29, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Hormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward?
The objectives of this paper are to: 1) Enhance understanding of the uncertainties in the decision-making process regarding hormonal interventions to treat patients with DSD. 2) Recognize that the effects of hormonal interventions might require a consent process similar to that applied for surgical procedures. 3) Emphasize the need to establish treatment algorithms that could form the basis of a standard of care for this patient population. PMID: 31245940 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - June 29, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Height SDS Changes ( ΔhSDS) in Healthy Children from Birth to 18 Years, with Correction Factors for Measurement Intervals of Less than One Year.
Height SDS Changes (ΔhSDS) in Healthy Children from Birth to 18 Years, with Correction Factors for Measurement Intervals of Less than One Year. Pediatr Endocrinol Rev. 2019 Jun;16(4):457-467 Authors: Hermanussen M, Mumm R, Rintisch A, Tutkuviene J, Suchomlinov A, Joubert K, Longas AF, Scheffler C Abstract BACKGROUND: Growth is volatile and non-linear. Assessing the instantaneous speed of growth (momentary height velocity) depends on the precision and the number of measurements and the duration of the observation period. Measurements at short intervals reflect both the non-linearity of growth and ...
Source: Pediatric Endocrinology Reviews - June 29, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Meeting Report: 2019 Annual Meeting of the Endocrine Society New Orleans, LA (March 23-26, 2019)Selected Highlights.
Authors: Agarwal S, Seagroves A, Bakhach M, Jindal I PMID: 31245942 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - June 29, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

The History of Noonan Syndrome.
Authors: Miller BS Abstract Early in her career, Jacqueline Noonan, a pediatric cardiologist, recognized that a number of children with valvular pulmonary stenosis had similar facial features. Dr. Noonan reported the clinical characteristics of this condition including short stature, hypertelorism, ptosis, mild mental retardation, undescended testes, and skeletal malformations. Further characterization of Noonan Syndrome led to the development of clinical criteria for the diagnosis of the condition. Identification of the first genetic cause of Noonan Syndrome, mutation of ptpn11 was reported in 2001. Multiple subse...
Source: Pediatric Endocrinology Reviews - May 24, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Clinical Manifestations of Noonan Syndrome and Related Disorders.
Authors: Breilyn MS, Mehta L Abstract Noonan syndrome represents a heterogeneous group of genetic disorders caused by mutations in genes of the RAS/MAPK pathway. Related syndromes include cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines and Costello syndrome. The common phenotypic features of Noonan syndrome include facial dysmorphisms, short stature, congenital heart defects and genitourinary abnormalities. These and other findings as well as features of related disorders are discussed. In addition we briefly review clinical diagnosis and prenatal findings of these syndromes and genetic coun...
Source: Pediatric Endocrinology Reviews - May 24, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Molecular Genetics of Noonan Syndrome and RASopathies.
Authors: Liao J, Mehta L Abstract The RAS/MAPK signaling pathway plays an essential role in development and tumorigenesis by regulating cell proliferation, differentiation, apoptosis, migration, and metabolism. Therefore, it is not surprising that germline mutations in genes encoding components or regulators of this signaling pathway cause numerous human genetic conditions, including Noonan syndrome and related disorders. The term "RASopathies" has been used to describe these disorders collectively due to their common underlying RAS/MAPK pathway dysregulation and overlapping clinical features. Taken toget...
Source: Pediatric Endocrinology Reviews - May 24, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

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 is the pos...
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 greater height ...
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 developme...
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 indicated. In...
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 conversion of ...
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 timely i...
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, cort...
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 remains ...
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 d...
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 endocrine compli...
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 19, 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 19, 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 were more l...
Source: Pediatric Endocrinology Reviews - December 19, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

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% of childr...
Source: Pediatric Endocrinology Reviews - December 19, 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 19, 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 19, 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 individuals who con...
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 only of chi...
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 hormone. The ...
Source: Pediatric Endocrinology Reviews - November 1, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research