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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 

Vol. 11.2

December 2013

 

Measuring Growth Hormone and Insulin-like Growth Factor-I in Infants: What is Normal?

Colin Patrick Hawkes, MD1,2,3, Adda Grimberg, MD1,4

Abstract

The role of growth hormone (GH) and insulinlike growth factor-I (IGF-I) change through early childhood. Whereas poor growth is a later presenting feature, infants with isolated GH deficiency have a normal birth weight and length, and often present with hypoglycemia. IGF-I plays an important role antenatal ly and post-natally in somatic and brain growth. In order to evaluate the GH / IGF-I axis in infancy, an understanding of the normal physiology is required. Measurements of GH and IGF-I in this population should be interpreted in the context of the assays used, as well as their limitations. In this review, we summarize our current understanding of normal GH and IGF-I secretion in children under 18 months of age, and describe variations in the reported assay-specific measurements.

Ref: Ped Endocrinol. Rev. 2013:11(2): 126-146

Keywords: growth hormone, insulin-like growth factor-I, neonate, infant, assay, normal

 

Parental perception of healthrelated quality of life in children and adolescents with short stature: Literature review and introduction of the parent-reported QoLISSY instrument

Dr. Julia Quitmann, Anja Rohenkohl1, Prof. Dr. Monika Bullinger1, Dr. John E. Chaplin2, Michael Herdman3, Dolores Sanz3, Dr. Emmanuelle Mimoun4, Eva Feigerlova, MD PhD4, Kendra DeBusk ,PhD 5, Prof. Dr. Michael Power5, Prof. Dr. Hartmut Wollmann6, Andreas Pleil, PhD

Abstract

Background: Health-related quality of life (HrQoL) of the child diagnosed with short stature is an important outcome to be assessed both from the patient as well as from the parental perspective. The objective of this study was to review the literature on parent-reported HrQoL and to subsequently develop and psychometrically test the parent-reported version of the Quality of Life in Short Stature Youth (QoLISSY) instrument for use in clinical and epidemiologic research.

Methods: A review of the literature on parental assessment of child HrQoL via PUBMED was followed by a psychometric analysis of data collected within the European QoLISSY study, in which 686 eligible parents of short statured children/adolescents (aged 4-18 years) meeting inclusion criteria participated. Patient inclusion criteria were a height below -2 SD, a diagnosis of growth hormone deficiency (GHD) or idiopathic short stature (ISS), and treatment status in terms of receiving or not receiving recombinant human growth hormone therapy. Focus groups eliciting parental HrQoL statements, pilot testing with cognitive debriefing, and a field test in 317 parents with a retest in 148 parents were conducted simultaneously in France, Germany, Spain, Sweden and the UK. The psychometric performance of the parentreported instrument, developed in parallel to the child/ adolescent self-report version, was assessed using standard tests of reliability and validity.

Results: Literature search failed to identify a crossculturally developed height specific instrument available for both patient self-report and parental observer report. Analysis of the QoLISSY focus group phase conducted separately in children, adolescents and parents yielded 169 items generated from parent focus groups. A cognitive debriefing exercise followed by a pilot test of preliminary psychometric characteristics resulted in deleting poorly performing items. Field testing of the parent-reported version suggested a three-domain core HrQoL structure with 22 items, additional 44 items assessing three mediator domains and two parent specific domains. The parent report version demonstrated good criterion and construct validity as well as internal consistency and test retest reliability.

Conclusions: The QoLISSY parent report questionnaire closes a gap in the simultaneous assessment of parent and child perception of HrQoL in an international context. It is based on items generated from the experience of short statured children, adolescents and their parents and is validated for use in five European languages. It is feasible, relevant for this population, psychometrically sound and is easy to administer in research and clinical settings.

Ref: Ped Endocrinol. Rev. 2013:11(2): 147-160

Keywords: Review, Health related Quality of Life, Paediatric Short Stature, Parents, QoLISSY instrument, Validation

 

Is There a Link between Influenza and Type I Diabetes? Increased Incidence of TID During the Pandemic H1N1 Influenza of 2009 in Chile

Valdés C.1, Unanue N.1-2, Hernández M.1-2, García R.1, Castro M.3, Vásquez L.2, Torres J.P.4, Mericq V.1-2

Abstract

Pandemic H1N1 2009 had the highest incidence in the middle-high income area of Santiago and affected mostly school age patients. Influenza A virus (IAVs) causes systemic and most commonly nonsystemic infection. Interestingly, it is able to replicate only in the presence of trypsin-like enzymes, as lung and pancreas. Hypothesis: IAVs infection may trigger beta cell destruction and increase the incidence of T1DM. Methods. A retrospective observational study of new T1DM pediatric patients from database of Clinica Las Condes between 1995 and 2012. Results: From 58 patients, 44.7% were diagnosed between 2009 and 2010, coincident with the H1N1 virus outbreak. There were no differences in clinical neither metabolic parameters between those patients from the 2009-2010 period and the rest. From those patients with available antibody panel, it was negative in 30% of the 2009-2010 group vs. 12.5% of the rest of the cohort (p ˂ 0.05). Only one 5.8 year old boy had history of H1N1 virus infection three months prior to the DM1 onset with negative antibodies. Conclusions: The temporal coincidence suggests a possible link between T1DM and H1N1 virus, might be thought to be through direct cytopathic damage. Unfortunately we could only confirm H1N1 previous infection in only one case. Prospective studies in new T1DM cases are necessary to test this hypothesis.

Ref: Ped Endocrinol. Rev. 2013:11(2): 161-166

Keywords: T1DM, Type 1 Diabetes Mellitus

 

Osteoporosis in Thalassemia Major: An Update and the I-CET 2013 Recommendations for Surveillance and Treatment

Vincenzo De Sanctis, MD1, Ashraf T Soliman, MD, PhD, FRCP2, Heba Elsedfy, MD3, Mohamed Yassin, MBBS, CABM, M Sc, FACP4, Duran Canatan, MD5, Yurdanur Kilinc, MD6, Praveen Sobti, MD, DCH, FIMSA7, Nicos Skordis, MD, PhD8, Mehran Karimi, MD9, Giuseppe Raiola, MD10, Maria Concetta Galati, MD11, Elsaid Bedair, MBBS, MSc, MD12, Bernadette Fiscina, MD, MPH13, Mohamed El Kholy, MD3

Abstract

In recent years, the issue of osteopenia/osteoporosis in children, adolescents and young adults with thalassaemia major (TM) has attracted much attention because it is a prominent cause of morbidity despite adequate transfusion and iron chelation therapy. The reported frequency of osteoporosis, even in well treated TM patients varies from 13.6% to 50% with an additional 45% affected by osteopenia. The pathogenesis of TM-induced osteoporosis is multifactorial. Genetic and acquired factors play role in demineralization of bones in thalassemia. Osteoporosis is characterized by low bone mass and disruption of bone architecture, resulting in reduced bone strength and increased risk of fractures. The significant predictors of fracture prevalence include male gender, hypothyroidism, age, lack of spontaneous puberty in females, active hepatitis, heart disease and diabetes. The early identification of osteopenia and osteoporosis is of paramount importance. This is because delayed diagnosis and inadequate treatment have led to severe osteoporosis, skeletal abnormalities, fractures, spinal deformities, nerve compression and growth failure. dequate hormonal replacement, has been posponed, Effective iron chelation adequate hormonal replacement, improvement of hemoglobin levels, calcium and vitamin D administration and physical activity are currently the main measures for the management of the disease. The use of bisphosphonates in TM patients with osteoporosis is increasing and their positive effect in improving bone mineral density is encouraging. The recommendations of the International Network on Growth Disorders and Endocrine Complications in Thalassaemia (I-CET) for diagnosis and management of osteoporosis in TM are also briefly included in this review.

Ref: Ped Endocrinol. Rev. 2013:11(2): 167-180

Keywords: Thalassaemia, osteoporosis, pathogenesis, treatment, guidelines

 

Dyggve-Melchiore-Clausen Dysplasia (DMC): Syndrome Associated with a Micropenis

Hanane Latrech1, Imane Skiker2, Yassamine Bentata3, Zayneb Alami4 , Oumnia Mouhib Lah5, Nouredine Oulali6,Nouffissa Benajiba 7 , S. Benmassoud7, Mohammed EL Jabri7, Ahmed. Gaouzi8, Mohammed El Hassan Gharbi5, Abdelmjid Chraïbi5

Abstract

Dyggve-Melchiore-Clausen (DMC) syndrome is a rare autosomal recessive spondyloepimetaphyseal dysplasia associated with mental retardation resulting from mutations in the Dymeclin (DYM) gene mapped in the 18q12-12.1 chromosomal region. We report a case of a consanguineous Moroccan boy with this disease confirmed by the presence of homozygous mutation at c.1878delA of DYM gene. Our patient additionally has a micropenis. We discuss the clinical severity, difficult management of this syndrome and its association with micropenis never described before in the literature.

Ref: Ped Endocrinol. Rev. 2013:11(2): 181-185

Key Words: Dyggve- Melchiore -Clausen, mental retardation, micropenis, recessive-autosomal

 

95th Annual Meeting & Expo San Francisco, CA US June 15-18, 2013 Selected Highlights

Mimi S. Kim, MD, Parisa Salehi, MD, Anna Ryabets-Lienhard, DO Clement Cheung, MD, PhD

Ref: Ped Endocrinol Rev. 2013;11(2): 186-196

Key words: Hypopituitarism, septo-optic dysplasia, growth hormone deficiency,SOX2, SOX3,FGFR1, FGF8, PROKR2, ARNT2, IGSF1,gonadotrophin, ACTH, Kallmann syndrome,Prader-Willi syndrome, heochromocytoma, paraganglioma, medullary thyroid carcinoma, obesity