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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. 9.2

December 2011

 

The Growth Hormone – Prolactin Relationship: A Neglected Issue

Zvi Laron, MD, PhD (h.c)

Abstract

During embryogenesis, the growth hormone-secreting cells (somatotrophs) and the prolactin-secreting cells (lactotrophs) develop from a common progenitor cell (somatomammotroph).

Postnatally, in situations when one of these two hormones is oversecreted, often the second hormone is, too.

The question posed is whether the increased secretion of growth hormone together with that of prolactin over long periods of time is a risk factor for malignancy.

Ref: Ped. Endocrinol. Rev. 2011;9(2):546-548

Keywords: Hyperprolactinemia, high serum GH,

prolactinoma, acromegaly, psychotropic drugs, cancer risk.

 

Growth Hormone (GH), Brain Development and Neural Stem Cells

Waters MJ, PhD, DSc, Blackmore DG, PhD

A range of observations support a role for GH in development and function of the brain. These include altered brain structure in GH receptor null mice, and impaired cognition in GH deficient rodents and in a subgroup of GH receptor defective patients (Laron dwarfs). GH has been shown to alter neurogenesis,

myelin synthesis and dendritic branching, and both the GH receptor and GH itself are expressed widely in the brain.

We have found a population of neural stem cells which are activated by GH infusion, and which give rise to neurons in mice. These stem cells are activated by voluntary exercise in a GH-dependent manner. Given the findings that local

synthesis of GH occurs in the hippocampus in response to a memory task, and that GH replacement improves memory and cognition in rodents and humans, these new observations warrant a reappraisal of the clinical importance of GH replacement in GH deficient states.

Ref: Ped. Endocrinol. Rev. 2011;9(2):549-553

Key words: Brain development, growth hormone, IGF-1,

neuro-stem cells, GH Receptors

 

Growth Hormone and Treatment Outcomes: Expert Review of Current

Clinical Practice

Fernando Cassorla1 MD, PhD, Stefano Cianfarani2 MD, Fritz Haverkamp3A, 3B,MD, PhD, Jose I. Labarta4, MD, PhD, Sandro Loche5 MD, Xiaoping Luo6, MD, PhD, Mohamad Maghnie7, MD, PhD, Veronica Mericq8, MD, PhD, Agota Muzsnai9, MD, PhD, Svante Norgren10, MD, PhD, Marja Ojaniemi11, MD, PhD, Zuzana Pribilincova12, MD, PhD, Sofia Quinteiro13, MD, PhD, Lars Savendahl14, MD, PhD, Angela Spinola e Castro15, MD, PhD, Christoph Gasteyger16,MD

Although there are guidelines for treatment of short stature, open questions regarding optimal management of growth hormone therapy still

exist. Experts attending six international meetings agree that successful therapy results in the patient attaining mid-parental height, and relies on correct diagnosis and early intervention. Experts advocate patient follow up every 3–6 months, and that growth and adherence should be monitored at each visit. Growth response

is variable, and an accepted definition of good/poor response is lacking. Combined with patient education and regular patient follow-up, a definition of treatment response could lead to improved treatment outcomes.

Few experts use prediction models in clinical practice, but all agree that pharmacogenetics might improve prediction, enable early therapy modulation, and promote growth. Poor growth is often due to low adherence. Guidance on optimal management of growth hormone therapy is required, with focus on early

diagnosis, dosing, treatment monitoring, adherence, and

motivation.

Ref: Ped Endocrinol. Rev. 2011:9(2):554-565

Key words: Growth hormone deficiency, short stature,

adherence, growth response

 

Transmission of Programming Effects across Generations

Amanda J Drake, MD, Jonathan R Seckl, MD

Abstract

Numerous epidemiological studies have shown that exposure to an adverse environment in early life is associated with a substantially increased

risk of later disease; a phenomenon termed ‘early life programming’. There is increasing evidence that these effects may not be limited to the first, directly exposed generation but may also be transmissible to subsequent generations through non-genomic mechanisms. There are a number of mechanisms which may underpin the intergenerational transmission of the programmed phenotype, including persistence of the abnormal environment across generations, programmed effects on maternal physiology and the transmission of epigenetic

information through the germline. In this review we discuss the evidence for these mechanisms in human and animal studies and the potential importance of this field for child health.

Ref: Ped. Endocrinol. Rev. 2011;9(2):566-578

Key words: Early life programming, intergenerational,

epigenetic

 

Growth Hormone Treatment for Short Stature: A Review of Psychosocial

Assumptions and Empirical Evidence

David E. Sandberg, PhD, Melissa Gardner, MA

Abstract

The advent of the unlimited availability of recombinant human growth hormone (rhGH) ushered in a new era of clinical management options and decisions for children with short stature, in particular, for those without GH deficiency. Ethical questions about treating non-GH-deficient short-statured children with rhGH quickly arose. After over two decades and after

several additional indications for rhGH use in children were approved, many issues remain relevant today, e.g.,under what circumstances should rhGH be used; is rhGH a treatment for psychosocial problems; and do benefits

outweigh risks? Ideally, findings from large placebocontrolled randomized clinical trials would inform clinical management decisions; however, their conduct has proved infeasible thus far. Still, mounting research evidence has

addressed many aspects of the controversies in this area of elective care. Clinicians are encouraged to systematically explore alternative, evidence-based options to rhGH treatment with parents and patients as a remedy for any perceived liabilities of SS, either in the present or future.

Ref: Ped. Endocrinol. Rev. 2011;9(2):579-588

Keywords: short stature, idiopathic short stature,

growth hormone, growth hormone treatment,

psychosocial, quality-of-life, decision-making, bioethics

 

Development of Human Insulin-Producing Cells for Cell Therapy of Diabetes

Holger A. Russ1, PhD, Shimon Efrat2, PhD

Abstract

Diabetes mellitus is characterized by the loss of insulin-producing beta cells. While conventional treatment results in severe long-term complications, cell replacement therapy is a promising approach for the cure of this disease. However, its application is severally limited by the shortage of donor tissue. Hence, great research efforts concentrate on the development of an abundant cell source of functional beta-like cells, by pursuing three main strategies: Expansion of human donor beta cells in vitro, reprogramming of other cell types, and directed differentiation of pluripotent stem cells, both embryonic and patient-derived. The goal of all these approaches has been the generation of cells with properties that closely resemble the beta-cell phenotype, in particular production and storage of adequate amounts of mature insulin, and its regulated release in response to physiological signals. Here we review recent progress in all three approaches and discuss their advantages as well as remaining challenges.

Ref: Ped. Endocrinol. Rev. 2011;9(2):590-596

Key words: beta-cell replication; nuclear reprogramming; pluripotent stem cells

 

Meeting Highlights: Lawson Wilkins Pediatric Endocrine Society Denver, Colorado, USA. April 30 - May 3, 2011

Juliana Austin1, MD, Sherry Franklin2, MD, Pisit Pitukcheewanont3, MD, Parisa Salehi3, MD, Amy Vedin3, MD

Ref: Ped. Endocrinol. Rev. 2011;9(2)

Key Words: anti-Müllerian hormone, cardiovascular disease, chronic kidney disease, circadian clock, congenital adrenal hyperplasia, constitutional delay of puberty, cortisol, craniopharyngioma, disorder of sex development, Gli2 knock-out mice, hypogonadism, hypoparathyroidism hypophosphatemic rickets, inhibin B, jet lag, medullary carcinoma, metabolic syndrome, multiple endocrine neoplasia syndromes, pituitary, recombinant human parathyroid hormone, thyroid cancer, thyroid nodule, type 2 diabetes, vitamin D

 

2011 Annual Meeting of the Endocrine SocietyBoston, Massachusetts (June 4-7, 2011)

Bhavna Bali1, MD, Karen Huang1, MD, Jennifer Klein2, MD Maria Lin1, MD, Molly Regelmann2, MD

Ref: Ped. Endocrinol. Rev. 2011;9(2):609-617

Key Words: aromatase inhibitors, constitutional delay of growth and puberty, letrazole, anastrazole, growth hormone deficiency, McCune-Albright syndrome, testolactone, tamoxifen, Cushing syndrome, familial glucocorticoid deficiency adrenocortical tumors, Klinefelter syndrome, precocious adrenarche, polycystic ovarian syndrome, delayed puberty, Kallmann syndrome, testosterone, autoimmune oöphoritis, and fragile X syndrome.