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© 2017 by MEDICALMEDIA for PER Pediatric Endocrinology Reviews. All rights reserved

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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. 14 Supplement 2

Jun 2017

 

Management of Type 1 Diabetes in Children in the First 5 Years of Life

Melissa Rearson, MSN, CRNP, Susan Sullivan-Bolyai DNSc, CNS, RN, FAAN

Abstract

A significant increase in children <6 years of age being diagnosed with type 1 diabetes (T1D) is occurring. The parents (caregivers) of these children have full responsibility for the complex and individualized management while having to deal with the emotional stress of caring for a child with a chronic condition. This article will provide a summary of the diagnosis and recommended medical treatment for this special age group of children. Also presented will be common day-to-day family management issues for health care providers to consider as they provide care for this most common endocrine chronic condition.

 

 

Ref: Ped. Endocrinol. Rev. 2017;14(Suppl2):412-421

doi: 10.17458/per.vol14.2017.rs.type1diabetes

 

The Emerging Adult with Diabetes: Transitioning from Pediatric to Adult Care

Jodi Krall, PhD, Ingrid Libman, MD, PhD, Linda Siminerio, RN, PhD, CDE

Abstract

Transfer from pediatric to adult health care is a significant life event for youth with chronic medical conditions. Unfortunately, youth may not be well prepared to navigate the shift in health care services, increasing their risk for loss to follow up and poor health outcomes. This review explores transition in care through the lens of type 1 diabetes, highlighting current practices and guidelines and offering recommendations for future consideration. Limited evidence suggests that transition programs that focus on strategies to prepare youth developmentally and equip the health care system appropriately have positive impact on the hand off of care, and health outcomes. Advanced practice nurses are well positioned to play a key role in helping youth with chronic conditions with the transition process.

 

 

Ref: Ped. Endocrinol. Rev. 2017;14(Suppl2):422-428

doi: 10.17458/per.vol14.2017.kls.emergingadultdiabetes

 

Current Strategies in Nutrition Education to Optimize Glycemic Management for Children with Diabetes

Francesca Annan, BSc (Hons) MSc, RD

Abstract

Recent developments in the understanding of the impact of dietary quality and meal composition are driving changes in the education provided to children and young people about nutrition and lifestyle management of Type 1 Diabetes (T1D). Nutrition education is moving beyond carbohydrate counting and insulin adjustment to acknowledging the influence of whole food choices on glycemic outcomes.

 

Ref: Ped. Endocrinol. Rev. 2017;14(Suppl2):429-434

doi: 10.17458/per.vol14.2017.a.strategiesnutrition

 

Continuous Glucose Monitoring in Pediatrics: The Gap between Potential Benefits and the Reality of Utility

Regina L. Taddeo, MA, RN, CDE, CPT, Joanne T. Moser, RN, MSN, CRNP, Pantea P. Minnock, RN, MSN, CRNP, CCRP

Abstract

Continuous Glucose Monitoring (CGM) is rapidly becoming a standard of care in the management of Type 1 diabetes (T1D). Today’s devices are nearly as accurate as home glucose meters. They provide glucose data every 5 minutes, alert to high and low blood glucose levels, and allow for remote monitoring of a user’s glucose data and patterns. Use of CGM has many benefits including support for tighter glycemic control without increasing the risk for hypoglycemia. There is however emerging evidence of some negative aspects associated with using CGM, which may result in decreased utilization of the device as well as a decline in quality of life, especially in the pediatric population. This article explores some of the challenges to successful CGM use and offers guidelines for helping patients/families minimize the negative impact of these revolutionary devices.

 

 

Ref: Ped. Endocrinol. Rev. 2017;14(Suppl2):435-440

doi: 10.17458/per.vol14.2017.tmm.glucosemonitoring

 

Gender Creative or Transgender Youth and Advanced Nursing Practice

Nicole Kirouac, RN BN, Mabel Tan, RN, MN

Abstract

The World Professional Association for Transgender Health (WPATH) defines gender dysphoria as “Discomfort or distress that is caused by a discrepancy between a person’s gender identity and that person’s sex assigned at birth (and the associated gender role and/or primary and secondary sex characteristics)” (WPATH, 2016). Gender creative (GC) and transgender (TG) youth are at high risk for severe mental health disparities if they don’t receive competent and timely gender transitioning care. Although awareness and early care of TG youth in specialty clinics is improving and increasing, there is still much effort that is required to eliminate barriers to care at many levels and thus improve outcomes. Nurses, particularly advanced practice nurses, are poised to lead the way in creating safe, inclusive, family centered spaces for TG and GC children, youth and their families as well as acting as vital mentors for other nurses. The purpose of this paper is to discuss the increasing prevalence of GC and TG youth, the significance of inclusive care for GC and TG youth, treatment guidelines, and the impact parents and advanced practice nurses can have on the journey of these youth as they explore and find their place on the gender spectrum.

 

Ref: Ped. Endocrinol. Rev. 2017;14(Suppl2):441-447

doi: 10.17458/per.vol14.2017.kt.gendercreativetransgender

 

The Key to Adrenal Insufficiency Education: Repetition, Repetition, Repetition

Margaret F. Keil, PhD, CRNP, Carol Van Ryzin, MS, CRNP

Abstract

Described more than 150 years ago by Thomas Addison, adrenal gland dysfunction, while treatable, remains a clinically significant and potentially fatal disease. Vague and non-specific symptomatology can delay diagnosis of adrenal insufficiency and lead to adrenal crisis. Affected individuals may delay self-management due to knowledge deficits or lack of required therapies. Advanced practice nurses must remain vigilant for signs and symptoms of adrenal insufficiency and prevention of crisis. Education of patients and their caregivers/family members must emphasize early intervention with regards to adrenal insufficiency in order to prevent adrenal crisis. Repetition of education about sick day rules and demonstration of intramuscular injections should be incorporated as part of the routine follow-up care of all individuals to enhance their confidence and self-efficacy in self-management of adrenal insufficiency.

 

Ref: Ped. Endocrinol. Rev. 2017;14(Suppl2):448-453

doi: 10.17458/per.vol14.2017.kr.keyadrenalinsufficiency

 

Turner Syndrome: Care of the Patient: Birth to Late Adolescence

Denise Gruccio Paolucci, DNP, CRNP, PNP-BC, Vaneeta Bamba, MD

Abstract

Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis. Early identification of TS allows for appropriate screening and surveillance evaluations and more timely treatment intervention. This article will provide an overview of the healthcare issues common to patients with TS, treatments available and the screening and surveillance testing that is recommended.

 

Ref: Ped. Endocrinol. Rev. 2017;14(Suppl2):454-461

doi: 10.17458/per.vol14.2017.pb.turnersyndromecare

 

Complexities of Care in Klinefelter Syndrome: An APRN Perspective

Sharron Close, PhD, MS, CPNP-PC, Amy Talboy, MD, Ilene Fennoy, MD, MPH

Abstract

 

47,XXY (Klinefelter Syndrome) is associated with a spectrum of complex clinical needs that are associated with variable physical, neurocognitive and psychosocial aspects. For patients and families affected by this sex chromosome trisomy, navigation of health care services is difficult due to lack of 47,XXY awareness among many health care providers and little evidence to support endocrine and additional treatment plans. While endocrine management of androgen deficiency has been the mainstay of treatment for patients from puberty through adulthood, testosterone replacement, alone, fails to mitigate many symptoms and issues. Prior to the onset of puberty, boys with 47,XXY often do not receive interdisciplinary evaluations and treatment. Since multiple health and ancillary therapeutic services are required for the management of 47,XXY, patients and families often experience disjointed and uncoordinated care. We discuss complexities of caring for patients with 47,XXY and the benefit of integrating advanced practice nursing and medical perspectives to improve care delivery.

 

Ref: Ped. Endocrinol. Rev. 2017;14(Suppl2):462-471

doi: 10.17458/per.vol14.2017.ctf.complexitiescareklinefelter

 

Children with Short Stature and Growth Failure: Heightism, Gender and Racial Disparities

Terri H. Lipman, PhD, CRNP, FAAN, Ian J. McCurry, BSN

Abstract

Growth is the single most important indication of the health of a child. Identification of growth disorders in all children is crucial as growth failure can be the first sign of a number of acute and chronic conditions. However, gender and racial biases have resulted in inequities in the identification, referral and treatment of children with growth disorders. In addition, short children have been impacted by a number of psychosocial issues. Heightism is prejudice or discrimination against individuals based on height, and refers to discrimination against individuals whose height is not within the normal acceptable range. Studies have shown that short children have been affected by juvenilization, teasing, bullying, victimization, loss of independence/ overprotection, and exclusion. The role of the advanced practice nurse is critical in addressing heightism and racial and gender disparities in children with growth failure/short stature.

 

Ref: Ped. Endocrinol. Rev. 2017;14(Suppl2):472-477

doi: 10.17458/per.vol14.2017.lm.childrenshortstature