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Pediatric Endocrinology Reviews (PER) is the most respected international peer reviewed journal in Pediatric Diabetes, Nutrition Metabolism and Genetics. Hypothyriodism, Hyperthyriodism, Glycemic Management for Children with Diabetes Glucose Monitoring Adrenal Insufficiency Turner Syndrome Late Adolescence Klinefelter Syndrome Children with Short Stature and Growth Failure: Heightism Type 1 Diabetes in Children Growth Hormone Treatment for GHD Insulin-like Growth Factor-I Growth Hormone Deficiency SGA Children with Short Stature Receiving GH Treatment Hypothalamic Obesity Adolescent Gynecomastia Hematospermia in Adolescents Gain-of-Function CDKN1C Mutations Craniopharyngioma Succinate-Dehydrogenase Deficient Paragangliomas/Pheochromocytomas Adrenal Steroidogenesis: Impact on Gonadal Function Focal Congenital Hyperinsulinism (CHI)  Longevity Hormone Klotho Pediatric Congenital Hypothyroid Lysosomal Storage Diseases Juvenile NCL (CLN3 Disease) GM1 and GM2 Gangliosidoses Types A and B Niemann-Pick Disease CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis) Krabbe Disease Fucosidosis Nuclear Factor Kappa B (NF-κB) in Growth Plate Chondrogenesis Persistent Müllerian Duct Syndrome LHX4 Gene Alterations Stunted Growth 45,X/46,XY Gonadal Dysgenesis Thyroid Hemiagenesis Nutrimetabolomics and Adipocitokines Chromosomal Microarray Analysis (CMA) Chromosomal microarray, Copy Number Variant (CNV), Prenatal, Amniocentesis, Comparative genomic hybridization, SNP array, Diagnosis, Clinical Abreviations: aCGH – array-based comparative genomic hybridization, ASD – autism spectrum disorder, BAC – bacterial artificial chromosome, CHD – congenital heart disease, CMA – chromosomal microarray analysis, CNV – copy number variant, CVS – chorionic villus sampling, DD – developmental delay, DNA – deoxyribonucleic acid, FISH – fluorescent in situ hybridization, GABA - gammaaminobutyric acid, ID – intellectual disability, LOH – loss of heterozygosity, NGS – next generation sequencing, NIPT – noninvasive prenatal testing, NOS – not otherwise specified, PGD - preimplantation genetic diagnosis, SNP – single nucleotide polymorphism, VUS – variant of unclear clinical significance Central precocious puberty, Traumatic brain injury, Pathophysiology Nephrolithiasis, Nephrocalcinosis, Hypercalciuria, Hyperoxaluria, Hypouricemia, Cystinuria, Genetics 

Volume 12.3

March 2015

 

The Urgent Need to Prevent Type 1 Autoimmune Childhood Diabetes

Zvi Laron, MD, Christiane S Hampe, PhD, Lester M Shulman, PhD

Abstract

Clinical onset of autoimmune Type 1 diabetes mellitus (T1DM) develops after an asymptomatic, complex interaction between host genetic and environmental factors lasting several years. The world-wide increase in T1DM incidence with no cure in sight necessitates the identification of the causative environmental factors in order to develop methods for preventing them from participating in the autoimmune process leading to T1DM. Human trials to prevent insulitis or development of T1DM (secondary prevention trials) have not as yet produced satisfactory outcomes despite promising results from T1DM animal models, possibly because the autoimmune response had already progressed too far and could not be stopped or reversed. Primary prevention trials conducted with individuals with increased genetic risk, but without signs of autoimmune response or metabolic abnormalities have also not yet produced any clear benefit. A correlation between month of birth and T1DM implicated seasonal infectious pathogens in the etiology of T1DM. This has prompted a search for those seasonal pathogens including viruses that might lead to onset of T1DM. Many studies investigated immediate viral triggers, e.g. viral infections at the time of clinical onset of T1DM. Fewer studies have investigated virus infections as the initial or early trigger in a cascade of events leading to development of T1DM. Seasonal virus infections of pregnant women may be transmitted in utero and induce the first damage to the developing fetus’s beta-cells. The identification of specific pathogenic viruses may enable development for pregestational vaccines to diminish the incidence of childhood T1DM.

 

Ref: Ped. Endocrinol. Rev. 2015;12(3):266-282

 

Key words: Childhood Type 1 diabetes mellitus, Prevention of diabetes: Epidemiology of month of birth, Incidence of childhood Type 1 diabetes, Viral etiology of childhood Type 1 diabetes, Pregestational vaccination

 

 

Cortisol Levels in Central Adrenal Insufficiency: Light and Shade

Vincenzo De Sanctis, MD, Ashraf Soliman, MD, PhD, FRCP,

Mohamed Yassin, MBBS, CABM, MSc ,Piernicola Garofalo, MD

Abstract

Evaluating children or adolescents with central adrenal insufficiency (CAI) is a difficult task in clinical practice, especially in subjects with hypothalamic-pituitary diseases and partial ACTH deficiency, or in those with recent pituitary surgery or brain irradiation when the adrenal cortex may still be responsive to stress. In 2008, a meta-analysis reported a three-step approach for evaluating patients at risk for CAI with no acute illness. In particular, the authors recommended the evaluation of morning cortisol, a low dose ACTH test (LDST) and the “gold standard” insulin tolerance test or metyrapone test if the low LDCT was not diagnostic. Cortisol and ACTH secretion exhibit significant fluctuation throughout the day. The reference ranges supplied by labs are so wide that they only flag up extremely low cortisol levels. Interpreting the results correctly can be difficult for a physician without an experience in adrenal dysfunctions. The lack of uniformity in these cut-off levels could in part be attributed to differences in study populations, variability of dynamic tests, the use of different serum cortisol assays and dissimilar cut-off peak serum cortisol response indicative of a normal axis response and the difference in the clinical context in which the studies were done. Therefore, laboratories have to advertise the need to establish reference values for given populations, both for basal or stimulated hormone levels. Failure to apply this rule may elicit false-positive and more critically, false-negative results. LDST (1 μg synthetic ACTH as iv bolus with measurement of serum cortisol) has been proposed as a sensitive test for the diagnosis of CAI. However, the advantage of LDST compared with the high dose test may be offset by the technical difficulties inherent to dilution of 250 μg ampoules. Clinical judgment remains imperative especially regarding the use of glucocorticoid supplementation during extreme stress.

 

Ref: Ped. Endocrinol. Rev. 2015;12(3):283-289

 

Key words: Central adrenal insufficiency, Cortisol, ACTH test, Light and shade

 

 

Anti-PIT-1 Antibody Syndrome; a Novel Clinical Entity Leading to Hypopituitarism

Hironori Bando, MD, Genzo Iguchi, MD, PhD, Masaaki Yamamoto, MD, PhD, Ryoko Hidaka-Takeno, MD, PhD, Yutaka Takahashi, MD, PhD

Abstract

Various hypothalamic-pituitary diseases cause hypopituitarism. Inflammation related to autoimmunity also causes hypopituitarism. Hypophysitis is a representative disease caused by autoimmunity. Generally, anterior pituitary hormones are non-specifically impaired in this condition, but specific hormone defects have been reported in some cases. Anti-PIT-1 (pituitary-specific transcription factor 1) antibody syndrome is a novel clinical entity that presents an acquired combined pituitary hormone deficiency characterized by a specific defect in growth hormone, prolactin, and thyroid-stimulating hormone. Circulating anti-PIT-1 antibody along with various autoantibodies are detected with multiple endocrine organopathy, meeting the definition of autoimmune polyglandular syndrome. Mechanistically, cytotoxic T lymphocytes that specifically react with PIT-1 protein play an important role in the development of this syndrome.

 

Ref: Ped. Endocrinol. Rev. 2015;12(3):290-296

 

Key words: PIT-1, Hypopituitarism, Autoimmune polyglandular syndromes, Cytotoxic T lymphocytes, Autoantibody, Anti-PIT-1 antibody syndrome, Hypophysitis

 

 

Obesity Management in Prader-Willi Syndrome

Parisa Salehi, MD, Anne Leavitt, MD, Anita E. Beck, MD, PhD,

Maida L. Chen, MD, Christian L. Roth, MD

Abstract

Prader-Willi Syndrome (PWS) is one of the most common genetic causes of obesity. The phenotype of obesity in PWS is unique and characterized by hyperphagia, earlier meal initiation, delayed meal termination, reduced energy expenditure, abnormal gut hormone profiles, as well as irregular responses to food in areas of the brain associated with satiety and reward. Management of obesity is necessary to avoid major morbidity. The relentless food-seeking behavior associated with PWS such as stealing, hoarding food, eating inedibles, and lying about eating, can cause turmoil both inside and outside of the home. Management is challenging for both patients and caretakers, but at this time there are limited medical therapies available besides dietary restriction and behavior management. However, current research shows promise for discovery of additional treatment options for hyperphagia and obesity management in PWS.

 

Ref: Ped. Endocrinol. Rev. 2015;12(3):297-307

 

Key words: Prader-Willi Syndrome, Genetic obesity, Hypothalamic obesity, Hyperphagia

 

Propranolol Induced Hypoglycemia

Amir Horev, MD, Alon Haim, MD, Alex Zvulunov, MD

Abstract

Since 2008, propranolol has become the first line therapy for infantile hemangiomas. Due to the fact that Infantile hemangiomas are the most common vascular tumors of infancy, the use of systemic propranolol has been dramatically increased in the last few years. The reported adverse effects of propranolol in the treatment of Infantile hemangiomas included symptomatic hypoglycemia. In this review we will summarize those reports and will offer guidelines for prevention of hypoglycemia secondary to propranolol therapy.

 

Ref: Ped. Endocrinol. Rev. 2015;12(3):308-310

 

Key words: Propranolol, Infantile Hemangioma, Hypoglycemia

 

The 48th Annual Scientific Meeting

of the Japanese Society for Pediatric Endocrinology (JSPE), Hamamatsu (Shizuoka), Japan (September 25–27, 2014)

Tatsuhiko Urakami, MD, Toshiaki Tanaka, MD

 

Ref: Ped. Endocrinol. Rev. 2015;12(3):311-312

 

Key words: The 48th Annual Meeting of JSPE, Environment 131I, Combined GH and anabolic steroid hormone treatment, Adult height of Prader-Will syndrome, Leptin treatment

 

 

Selected Highlights of the VIII International Symposium of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A ) on Growth, Puberty and Endocrine Complications in Thalassaemia. Auditorium of the Sultan Qaboos University (SQU) Muscat (Sultanate of Oman), 20th of December 2014

 

Vincenzo De Sanctis, MD, Ashraf T Soliman, MD (Paed), PhD (UK) , FRCP (UK), Yasser Wali, MD (Paed), FRCPCH (UK), Heba Elsedfy, MD, Shahina Daar, MD, Saif A.H. Al-Yaarubi, MD, FRCPCH (UK), Surekha Tony, MD, Mohamed Elshinawy, MD, Hanan Fawzy, MD, Taimoora Al-Subhi, MD, Abulhakim Al-Rawas, MD, FRCPC, Muhanna Al-Muslehi, MD, FRCPath, Mohamed El Kholy, MD

Abstract

The VIII ICET-A International Symposium was held in Muscat (Sultanate of Oman) on the 20th of December, 2014. The symposium included four sessions on a wide range of topics covering growth disorders and endocrine complications in thalassaemia. Despite the fact that endocrine complications are very common in multi-transfused thalassaemia patients a recent survey conducted by the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) in 2014 in Acitrezza (Catania, Italy) showed that the major difficulties reported by hematologists or pediatricians experienced in thalassaemias or thalassaemia syndromes in following endocrine complications included: Lack of familiarity with medical treatment of endocrine complications, interpretation of endocrine tests, lack of collaboration and on-time consultation between thalassaemic centres supervised by haematologists and endocrinologists. Endocrine monitoring of growth, pubertal development, reproductive ability and endocrine function in general are essential to achieve a good quality of life as well as controlling the pain which results from the defects of bone structure, all of which increase with the age of patients. Such comprehensive care is best provided by coordinated, multidisciplinary teams working in expert centres. The multidisciplinary team must include an endocrinologist, preferably someone experienced in the management of hormonal deficiencies caused early in life by transfusion-induced iron overload.

 

Ref: Ped. Endocrinol. Rev. 2015;12(3):313-322

 

Key words: Thalassemia, Growth, Endocrine complications, ICET-A symposium

 

"Proceedings of the 22nd Aschauer Soiree on Growth and Health Screening", held at Altenhof, Germany, November 15th, 2014

Michael Hermanussen, MD, Anna Anisimova, Christian Aßmann, Dr, Stef van Buuren4PhD, Antonio D. Cámara, PhD, Mona Abbas Elhusseini, MD, Mortada Hassan El-Shabrawi, MD, Elena Zinovyevna Godina, PhD, DSc, Aleksandra Gomula, MSc, Detlef Groth, Dr, Slawomir Koziel, Dr, Leslie Sue Lieberman, PhD, Christof Meigen, Rebekka Mumm, MSc, Koichi Nariyama, PhD, Natalia Nowak-Szczepanska, MSc, Natalija Novokmet, PhD, Takashi Satake, PhD, Christiane Scheffler, Dr, Jani Söderhäll, Andrej Suchomlinov, PhD, Janina Tutkuviene, MD, Jan M Wit, MD, PhD, Ursula Witwer-Backofen, Dr, Cherie Lynn Yestrebsky, PhD

Abstract

Twenty-five scientists met at Aschauhof, Altenhof, Germany, to discuss various aspects of the complex network of modern health screening, focusing on current scientific topics including medical sciences, human biology, and mathematics; on problems in implementing these results at the practical level of physicians, nurses, technicians, and engineers; and the level of administrative and political decisions. Whereas major scientific advancements have been published in the understanding and the bio-statistical evaluation of anthropometric screening parameters such as serial measurements of height and weight for preventive medical check-ups, BMI screening and surveillance in schools, etc., the implementation of these advancements into current health screening concepts, strategies and decision-making is poor. Fear of discrimination, misperception of body image, behavioural responses and political concerns, meanwhile dominate and negatively interfere with the implementation of recent scientific results into public health screening concepts and practices.

 

Ref: Ped. Endocrinol. Rev. 2015;12(3):323-332