For Debate: The Controversy whether Rotavirus Vaccination Attenuates the Incidence of Childhood Type 1 Diabetes.
Authors: Blumenfeld O, Hampe CS, Shulman L, Chen R, Laron Z Abstract Recent epidemiological surveys performed in Australia, USA and Israel demonstrate that Rotavirus vaccination correlates with an attenuated prevalence and/or incidence of early childhood diabetes (T1D). Other studies failed to confirm the above. PMID: 32780950 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

For Debate: The Two Paths of Growth Hormone (Excess and Deficiency): Both Roads Uniquely Lead to Diabetes Mellitus.
Authors: Henry RK Abstract Glucose dysregulation (GD), a feature of growth hormone excess, in the setting of acromegaly is well known by clinicians. However, less well known is that GD may be a feature of growth hormone deficiency. The fact that either ends of the spectrum of growth hormone (excess or deficiency) can be associated with diabetes mellitus is unique and clinicians should especially recognize that impaired glucose tolerance and even diabetes mellitus may develop in individuals predisposed to having growth hormone deficiency. PMID: 32780951 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

The Many Facets of Vitamin D in the Pediatric Population.
Authors: Scheffer-Rath ME, Boot AM Abstract Vitamin D is important for skeletal growth, bone mineralization and dental health. Vitamin D deficiency is reported in many countries, may have several causes and can cause rickets in children. A guideline with recommendations of vitamin D supplementation to prevent nutritional rickets was published recently. The vitamin D receptor is present in many cells of the body including cells of the immune system. Many studies have been published on associations between vitamin D deficiency and extra skeletal effects, mainly without proof of causality in intervention studies. This...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
We report a unique case of FS presenting initially with primary amenorrhea at 16 years, without previous or concomitant renal damage. Only subsequently she developed an extremely late-onset nephropathy. Genetic analysis revealed the IVS9 + 5 G>A mutation in intron 9 of the WT1 gene. This clinical presentation and review of WT1 literature highlights the importance of considering FS in the differential diagnosis of patients with 46,XY disorders of Sexual development, even without nephropathy. Furthermore, the identification WT1 gene mutation prior to evident renal dysfunction indicates an immediate and close surveillance ...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Impact of Childhood Obesity on Bone Metabolism.
Authors: Silva MAFS, Dechichi P, Limirio PHJO Abstract Childhood obesity is a considerable worldwide health problem and a major risk factor for several chronic diseases. Fat rich diets result in altered serum levels of lipids, cytokines and hormonal factors, which influence skeletal acquisition and promote microstructural and mechanical behavior changes in bone, especially to bone quality and quantity. However, the possible longterm implications of high-fat diets in childhood are controversial. Despite not fully understood, multiple signaling pathways which support bone tissue homeostasis are altered under hyperlip...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease.
Authors: Hampe CS, Polgreen LE, Lund TC, McIvor RS Abstract Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder, caused by deficiency of α-L-iduronidase, and consequent accumulation of dermatan and heparan sulfates. Severity of the disease ranges from mild (Scheie) to moderate (Hurler-Scheie) to severe (Hurler or MPS-IH). A prominent clinical manifestation of MPS-IH is dysostosis multiplex, a constellation of skeletal abnormalities. We performed a retrospective review comparing manifestations of dysostosis multiplex in patients presenting with MPSIH and relevant animal models. Dog, cat...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Use of Growth Hormone Treatment in Skeletal Dysplasia - A Review.
Authors: Kochar IS, Chugh R Abstract Skeletal dysplasias are the disorders of the skeletal and cartilaginous tissues. Short stature is the hallmark presentation. Achondroplasia is the commonest skeletal dysplasia. Growth hormone (GH) has been widely used in children with achondroplasia. Various studies have shown 1st year increase in height velocity is about 2-3cm. Apart from achondroplasia, studies have also shown positive effect of GH in hypochondroplasia children. However, in hypochondroplasia GH treatment seems to give better results when administered at puberty. Other forms of skeletal dysplasias are rare, so ...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

New Insights into Pheochromocytoma Biology: the Role of the Insulin - Like Growth Factor 1 (IGF1) System.
Authors: Pennisi PA, Fernández MC, Martin A Abstract Pheochromocytomas/paragangliomas (PCCs/PGLs) are rare neuroendocrine tumors, developed from chromaffin cells derived from the neural crest. From a genetic point of view PCCs/PGLs are divided as sporadic cases, and inherited cases as part of hereditary (familial) syndromes. While the majority is benign, up to 26% of PCCs/PGLs will undergo malignant transformation. Validated prognostic pathological parameters for malignant PCCs/PGLs are still lacking. Signaling that follows the interactions between IGFs and their receptor/s in tumor cells received extensive ...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Genetic and Environmental Factors in the Pathophysiology of Hashimoto's Thyroiditis.
Authors: Gaga R, Sur ML, Lazăr C, Lazea C Abstract Finding multiple familial patients with Hashimoto thyroiditis in our clinic a search in the literature confirms that genetic factors, in addition to environmental factors, seem involved in the etiology of this disease. PMID: 32780958 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Letters to the Editor: Why are Children with Klinefelter Syndrome Tall?
Authors: Kamar-Matias A, Laron Z PMID: 32780959 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

For Debate: Assessment of HbA1c in Transfusion Dependent Thalassemia Patients.
Authors: De Sanctis V, Soliman AT, Daar S, Di Maio S, Elsedfy H, Kattamis C Abstract At present, assessment of haemoglobin A1c (HbA1c) is widely used for the diagnosis and monitoring of treatment in diabetes mellitus (DM). However, the HbA1c level is affected by many factors such as those influencing the lifespan of red blood cells and the structure, function and amount of normal HbA. Therefore, the clinical significance of HbA1c assessment in thalassemia patients needs careful consideration, especially in transfusion dependent thalassemia patients (TDT) in whom circulating Hb is that of blood donors. Preliminary r...
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Neonatal and Infant Reference Intervals for FSH, LH, Testosterone, Estradiol, Cortisol and DHEA-S by Electrochemiluminescence in Argentina.
CONCLUSION: These reference intervals may help to increase the diagnostic power for the assessment of endocrine disorders during the first year of life. PMID: 32741154 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Puberty in Patients with Ovotesticular DSD: Evaluation of 20 Patients and Review of the Literature.
CONCLUSION: It was observed that patients who preserved gonadal tissues were able to enter puberty spontaneously. PMID: 32741155 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

A Clinical Update on Childhood Hypertension.
Authors: Sharma S, Sharma P Abstract BACKGROUND: Hypertension is one of the leading morbid factors in adults but often a less noticeable concern in childhood age group. Young population is now more vulnerable to lifestyle disorders leading to early chronic diseases if not addressed due to presence of ignorance and inadequate assessment. To label hypertension in pediatric age group, blood pressure should be ≥ 95th percentile for age, height and sex in small children. OBJECTIVE: Purpose of review is to unfurl the knowledge for monitoring and management of hypertension in children. We emphasize the need to spre...
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Genetics of Neonatal Hypoglycaemia.
Authors: Zoledziewska M Abstract Hypoglycaemia is the most common metabolic health complication in newborns. Persistent and severe hypoglycaemia in a neonate is correlated with morbidity and could represent an early clinical manifestation of an endocrine or metabolic, genetically determined disorder. Besides this, the most common reason for neonatal hypoglycaemia is the inmature liver storage of glucose seen in preterms or children born intrauterine growth retarded. The genetic determination of hypoglycaemia is gene- and allele- heterogeneous, and thus complex to diagnose. Nevertheless its contribution to brain dam...
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Meeting Report: Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia: Highlights from the Fourth International Hyperinsulinism Symposium.
Authors: Lord K, De León DD Abstract Hypoglycemia remains a significant cause of morbidity in infants and children. Up to 50% of children with hypoglycemic disorders suffer from neurodevelopmental deficits, as a consequence of delays in the diagnosis and inadequate treatment. Recent advances in the field have resulted in new therapies and improved outcomes. To review these advances and have a dialogue regarding controversies in the field, the Fourth International Hyperinsulinism Symposium, sponsored by the Children's Hospital of Philadelphia was held in Philadelphia, Pennsylvania on September 5-6, 2019. The ...
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

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