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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. 9.4

June 2012

 

To Be Or Not To Be "TALL"?

Zvi Laron, MD, PhD (h.c.)

Abstract

Constitutional tall stature can be anticipated from neonatal length (1) and measurement at age 4 and 8 years (2). Mainly of genetic origin (3) it has been shown that tall children and parents have high normal or higher than normal serum hGH and/or IGF-I levels. (4-6). Also in a healthy adult population a significant (p<0.005) association between height and serum IGF-I has been reported (7). These within normal variations in "healthy" individuals should be distinguished from "gigantism" due to excessive GHR-H or hGH secretion (8, 9) and other pathological conditions leading to tall stature (3).

Ref: Ped. Endocrinol. Rev. 2011;9(4): 696-697

Keywords: Tall stature, cancer, blood GH levels, GH treatment, social status, economic status

 

Can The Consequences of Universal Cholesterol Screening During Childhood Prevent Cardiovascular Disease and Thus Reduce Long-Term Health Care Costs?

Steven E. Lipshultz, MD, Judith Schaechter, MD, Adriana Carrillo, MD, Janine Sanchez, MD, Muhammad Yasir Qureshi, MD, Sarah E. Messiah, PhD, MPH, Eugene R. Hershorin, MD, James D. Wilkinson, MD, Tracie L. Miller, MD

Abstract

The National Heart, Lung, and Blood Institute (NHLBI) Expert Panel in the United States (US) recently published its report, Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents. The Panel’s goals were to develop comprehensive, evidencebased strategies for use by general practitioners in the primary and primordial prevention of cardiovascular disease (CVD). These Guidelines have been endorsed by the American Academy of Pediatrics. Many of the recommendations restate existing lifestyle guidance similar to those proposed by the Committee on Nutrition in 2008. However a debate has emerged because for the first time, universal and comprehensive childhood dyslipidemia screening and treatment is now recommended by these new Guidelines. Because of universal screening, dyslipidemia attributed to both lifestyle and genetic factors could potentially be ascertained. The recommendations to screen for serum lipids and glucose have stimulated heated discussions among pediatricians, subspecialists, and policy-makers. This commentary discusses the medical, psychosocial and economic benefits and risks of universal cholesterol screening in children.

Ref: Ped. Endocrinol. Rev. 2012;9(4): 698-705

Key Words: Child; Lipids, Screening; Cardiovascular Disease; Prevention, Cholesterol

 

GLI2 Mutations as a Cause of Hypopituitarism

Laurie E. Cohen, MD

Abstract

The sonic hedgehog (Shh) signaling pathway is important in pituitary and craniofacial development. Gli2 is a transcription factor that mediates Shh signaling. Mutations in GLI2 have been found in association with holoprosencephaly (HPE) and HPE-like phenotype, with and without pituitary hormone deficiencies; as well as in patients with pituitary dysfunction with and without HPE craniofacial features. Polydactyly is a common associated finding.

Ref: Ped. Endocrinol. Rev. 2012;9(4): 706-709

Keywords: GLI2, sonic hedgehog, holoprosencephaly, hypopituitarism

 

Empty Sella Syndrome

Anne M. Lenz1, MD, Allen W. Root2, MD

Abstract

An empty sella (ES) develops when cerebrospinal fluid (CSF) fills the sella turcica and compresses pituitary tissue until it lines the sellar floor and walls. Primary ES occurs when CSF enters the sella through a rent in the sellar diaphragm that may or may not be associated with increased intracranial pressure. Secondary ES is a result of an injury to the pituitary itself (e.g., pituitary apoplexy) or the consequence of surgical or radiation treatment. In adults, ES is most commonly found in older, obese, hypertensive, multiparous women and may be asymptomatic. In children, however, ES is more likely to be associated with clinical symptoms and endocrinopathies, p a r t i c u l a r l y g r o w t h h o r m o n e d e f i c i e n c y, hypogonadotropism, or multiple pituitary hormone deficiencies. The incidence of ES in children varies greatly depending on the population surveyed, ranging from 1.2% (children without endocrine symptoms) to 68% (children with known endocrinopathy). Children with a finding of ES require endocrinologic and ophthalmologic evaluation. Treatment of ES includes replacement of hormone deficiencies and occasionally surgical measures to relieve obstructive intracranial lesions.

Ref: Ped. Endocrinol. Rev. 2012;9(4): 710-715

Key words: Empty sella, Growth hormone deficiency, Pituitary, Short stature, Delayed puberty

 

Neurocognitive Development of Children Born Small for Gestational Age (SGA). An Update

Beatriz Puga1, PhD, Paloma Gil1, PhD, Antonio de Arriba, MD1, 2, José Ignacio Labarta2, MD, Agustín Romo2, MD, Esteban Mayayo2, MD, Ángel Ferrández Longás1, MD

Abstract

The aim of the present study is to confirm that being born SGA is a serious risk for a negative neurocognitive development. 233 cases have been controlled yearly and longitudinally by the same investigator, some of them 11 times, showing 25,8 % an IQ less than 2 SD, being less affected the catch-up + group (15 %), compared to the catch-up – group (31,4 %). The GH therapy (n 64) started before the age of 6 (n 38) or after 6 (n 26), doesn’t improve the negative outcome.

Ref: Ped. Endocrinol. Rev. 2012;9(4): 716-726

Key words: SGA; neurocognitive evolution related to growth and to growth hormone therapy.

 

Treatment of Short Stature Due To SHOX Haploinsufficiency: How Genetics, Radiology And Anthropometry Can Help The Pediatrician in The Diagnostic Process Padova (April 20th, 2011)

Vincenzo De Sanctis1,MD, Ilaria Tosetto2 MD, Lorenzo Iughetti3, MD, Franco Antoniazzi4 MD, Maurizio Clementi5 MD, TizianaToffolutti6 MD, Paola Facchin7, MD, Elena Monti4, MD, Lorena Pisanello8, MD, Giorgio Tonini9, MD, Nella A. Greggio2, MD

Abstract

The growth of the human body depends from a complex interaction between nutritional, environmental and hormonal factors and by a large number of different genes. One of these genes, short stature homeobox (SHOX), is believed to play a major role in growth. SHOX haploinsufficiency is associated with a wide spectrum of conditions, all characterized growth failure such as Leri-Weill dyschondrosteosis , Turner syndrome, short stature with subtle auxological and radiological findings and the so called "idiopathic short stature" (short stature with no specific findings other than growth failure). The document was prepared by a multidisciplinary team (paediatric endocrinologists, paediatrician, radiologist, geneticist and epidemiologist) to focus on the investigation of children with suspected SHOX- deficiency (SHOX-D) for an early identification and a correct diagnostic work - up of this genetic disorder. On the basis of a number of screening studies, SHOX-D appears to be a relatively frequent cause of short stature. The following recommendations were suggested by our multidisciplinary team: (i) a careful family history, measurements of body proportions and detection of any dysmorphic features are important for the suspect of a genetic disorder ,(ii)the presence of any combination of the following physical findings, such as reduced arm span/ height ratio, increased sitting height/height ratio, above average BMI, Madelung deformity, cubitus valgus, short or bowed forearm, dislocation of the ulna at the elbow, or the appearance of muscular hypertrophy, should prompt the clinician to obtain a molecular analysis of the SHOX region, (iii) it is of practical importance to recognise early or mild signs of Madelung deformity on hand and wrist radiographs, (iv) growth hormone ,after stimulation test, is usually normal . However, treatment with rhGH may improve final adult height; the efficacy of treatment is similar to that observed in those treated for Turner syndrome.

Ref: Ped. Endocrinol. Rev. 2012;9(4): 727-733

Key words: SHOX- gene, idiopathic short stature, short stature with and without dysmorphic features, Madelung’s deformity, guidelines, primary and secondary health care services

 

2012 Annual Meeting of Pediatric Endocrine Society Selected Highlights Boston, Massachusetts (April 27-May 1, 2012)

Bradley Miller1, MD, PhD, Parisa Salehi2, MD, Erin Shih2, MD, Amy Vedin2, MD

Ref: Ped. Endocrinol. Rev. 2012;9(4): 734-743

Key Words: neonatal thyroid disease, sick euthyroid syndrome, performance-enhancing drugs, doping, supplements, obesity, ghrelin, enteric-neural-islet axis, incretin, satiety