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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 14.3

Mar 2017

 

In memoriam:

Juan Jorge Heinrich, MD, PhD

(1937-2016)

Ignacio Bergadá, MD, Rodolfo Rey, MD

 

Ref: Ped. Endocrinol. Rev. 2016;14(3):273

doi: 10.17458/per.vol14.2017.RR.IM.heinrich

 

 

Melvin M. Grumbach, MD, (1925-2016)

Walter L. Miller, MD

 

Ref: reprinted from Ped. Endocrinol. Rev. 2016;14(2):96-102

doi: 10.17458/per.vol14.2017.WM.IM.grumbach

 

 

For Debate:

Should We Worry about Hematospermia in Adolescents and Young Men? A Report of Six Cases and Review of the Literature

Vincenzo De Sanctis, MD, Javaad Zargooshi, MD, Alberto Marsciani, MD, Ashraf T Soliman, MD, PhD, FRCP, Heba Elsedfy, MD, Nada A Soliman, MD, Salvatore Di Maio, MD

 

Abstract

Hematospermia or hemospermia is defined as the presence of blood in ejaculate. The true prevalence of the condition is unknown because many cases escape the patient's notice, and remain unrecognized and unreported. There are two main aims in the patient evaluation: first, to ensure that there is no specific condition that is treatable; second, to reassure the patient's parents that no causative factor is present. Many physicians are unfamiliar with this disorder and this forms the basis for our current review. We performed an essentially English language search (Medline since 1966 to present and reference list of articles) for "hematospermia”, or “hemospermia" in combination with "adolescents", "young adults", "genital diseases", "management" and "review". The authors’ personal experience with 6 adolescents and young men (up to the age of 20 years) is also reported. Several anatomical structures contributing to the ejaculate may be the source of the hematospermia: seminal vesicles, prostate, testis and epididymis. Hematospermia is a generally benign and self-limited condition that is infrequently associated with significant underlying pathology. Once the diagnosis is clear, it is important to reassure the adolescent about the benign nature and self-limiting course of the condition and to provide appropriate treatment to help ensure the adolescent’s normal sexual development.

 

Ref: Ped. Endocrinol. Rev. 2016;14(3):281-288

 

doi: 10.17458/per.vol14.2017.SZMS.FD.hematospermia

Key words: Hematospermia, Adolescents, Youth, Assessment, Treatment

 

 

 

IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations

Catalina Cabrera-Salcedo, MD, Priya Kumar, PhD, Vivian Hwa, PhD, Andrew Dauber, MD, MMSc

 

Abstract

CDKN1C is a cyclin-dependent kinase Inhibitor and negative regulator of cellular proliferation. Recently, gain-of-function mutations in the PCNA domain of CDKN1C have been reported as the genetic basis of various growth-retarded syndromes including IMAGe syndrome, Russell Silver syndrome as well as a novel undergrowth syndrome that additionally exhibited early adulthood onset diabetes. This review summarizes the key clinical features and the molecular advances that have contributed to our understanding of this complex phenotypic spectrum.

 

Ref: Ped. Endocrinol. Rev. 2017;14(3):289-297

doi: 10.17458/per.vol14.2017.SKHD.imageandrelatedundergrowth

Key words: IMAGe syndrome, CDKN1C, Adrenal hypoplasia, Intrauterine growth restriction

 

 

Endocrine Disorders Developing after Surgical Intervention of Craniopharyngioma in Children

Kyrillus S. Shohdy, MBBS, Wegdan Rashad, MBBS

 

Abstract

Craniopharyngiomas, albeit their benign nature, can cause severe damage to visual, hypothalamic, endocrine and neurologic functions which make their total resection an inevitable approach to save the patient’s life. However, significant therapy-related long term complications make those traditional treatment options debatable and hazardous. This review will focus on the various complications that affect the childrens’ quality of life considerably such as, diabetes insipidus, precocious puberty and hypothalamic obesity.

Ref: Ped. Endocrinol. Rev. 2017;14(3):298-301

doi: 10.17458/per.vol14.2017.SR.endocrinedisorderscraniopharyngioma

Key words: Craniopharyngioma, Hypothalamic obesity, Precocious puberty, Pituitary, Endocrinopathy

Abbreviations: CP=Craniopharyngioma, DI=Diabetes Insipidus, HyOb=Hypothalamic Obesity, CPP=Central Precocious Puberty

 

 

 

Effects of Anorexia Nervosa on the Endocrine System

Charumathi Baskaran, MD, Madhusmita Misra, MD, MPH, Anne Klibanski, MD

 

Anorexia nervosa (AN) is characterized by severe undernutrition associated with alterations in multiple endocrine axes, which are primarily adaptive to the state of caloric deprivation. Hormonal changes include growth hormone (GH) resistance with low insulin like growth factor-1 (IGF-1) levels, hypothalamic hypogonadism, relative hypercortisolemia and changes in appetite regulating hormones, including leptin, ghrelin, and peptide YY. These alterations contribute to abnormalities in bone metabolism leading to low bone mass, impaired bone microarchitecture, and increased risk for fracture, and may also negatively impact cognition, emotions and mood. The best strategy to improve all biologic outcomes is weight and menstrual recovery. Physiological estrogen replacement improves bone accrual rates and measures of trait anxiety in adolescents with AN. Other therapies including testosterone and IGF-1 replacement, and use of DHEA with oral estrogen-progesterone combination pills, bisphosphonates and teriparatide have also been studied to improve bone outcomes.

 

Ref: Ped. Endocrinol. Rev. 2017;14(3):302-311

doi: 10.17458/per.vol14.2017.BMK.effectsanorexianervosa

Key words: Anorexia Nervosa, Endocrine alterations, Bone, Mood

 

 

 

Succinate-Dehydrogenase Deficient Paragangliomas/Pheochromocytomas: Genetics, Clinical Aspects and Mini-Review

Larisa Rusyn, MD, Brenda Kohn, MD

 

Abstract

Context: Paragangliomas (PGLs) are the histologic equivalents to extra-adrenal neuroendocrine tumors originating from sympathetic (thorax, peri-renal, pelvis, abdomen) or parasympathetic (head-and-neck) neural crest-derived tissue, termed paraganglia. Infrequent occurrence during childhood/adolescence and the life-threatening malignant potential of succinate dehydrogenase B (SDHB) PGLs makes understanding the genetics and pathophysiology of these entities of clinical importance.

Evidence Acquisition: We identified articles through the U.S. National Library of Medicine by using the search terms paraganglioma and SDHB. We focused on manuscripts which included studies on the genetics and pathogenesis of SDHB PGLs/PGL syndromes. Reference search with verification of source data was done.

Evidence Synthesis: Scientific investigation over recent years has advanced the study of genetic, epigenetic, and molecular mechanisms of SDH PGL syndromes. Confirmation that SDH PGLs result from inactivating germline mutations within the mitochondrial SDH complex II denotes that dysregulation of the mitochondrial respiratory chain is an inciting factor in the development of neoplasia, and places SDH mutagenesis as a prismatic example for the study of solid tumors. PHEO/PGLs represent one of the most heritable solid cancer syndromes with greater than 30% of PGLs associated with germline mutations.

Conclusions: In the context of the aggressive malignant potential of SDHB germ line mutations along with the development of associated tumors, a methodical approach must be exercised to recognize this entity. Genetic testing of patient and family is based on specific gene mutation and immunohistochemistry (IHC) analysis of SDHB protein expression and is guided by tumor localization to stratify the disease. Life-long multidisciplinary annual follow-up is necessary.

 

Ref: Ped. Endocrinol. Rev. 2017;14(3):312-325

doi: 10.17458/per.vol14.2017.RK.succinatedehydrogenase

Key words: Succinate Dehydrogenase B (SDHB), Paraganglioma (PGL), Germline Mutation

 

 

Meeting Report:

Adolescence – a Transition to Adulthood

Proceedings of the 24th Aschauer Soiree, held at Jurata, Poland, November 5th 2016

Koziel Slawomir, PhD, Hermanussen Michael, MD, PhD, Gomula Alexandra1, PhD, Swanson James, MD, PhD, Kaczmarek Maria, PhD, El-Shabrawi Mortada, MD, PhD, Elhusseini Mona, MD, Satake Takashi, PhD, Martinović Klarić Irena, PhD, Scheffler Christiane, PhD, Morkuniene Ruta1, Godina Elena, PhD, Saša Missoni, PhD, Tutkuviene Janina, PhD, Siniarska Anna, PhD, Joanna Nieczuja-Dwojacka, Núñez Javier, PhD, Groth Detlef, PhD, Barbieri Davide, PhD

 

Abstract

Eighteen scientists met at Jurata, Poland, to discuss various aspects of the transition from adolescence to adulthood. This transition is a delicate period facing complex interactions between the adolescents and the social group they belong to. Social identity, group identification and identity signalling, but also stress affecting basal salivary cortisol rhythms, hypertension, inappropriate nutrition causing latent and manifest obesity, moreover, in developing and under-developed countries, parasitosis causing anaemia thereby impairing growth and development, are issues to be dealt with during this period of the human development. In addition, some new aspects of the association between weight, height and head circumference in the newborns were discussed, as well as intrauterine head growth and head circumference as health risk indicators.

 

Ref: Ped. Endocrinol. Rev. 2017;14(3):326-334

doi: 10.17458/per.vol14.2017.SMAJM.MR.adolescenceaschauer

Key words: Strategic growth adjustment, BMI, Growth faltering, Secular trend, Obesity, Growth modelling