Dyshormonogenesis Emerging As a Predominant Cause of Congenital Journal of Hypothy-Roidism in India - a Mini Review

Total Page:16

File Type:pdf, Size:1020Kb

Dyshormonogenesis Emerging As a Predominant Cause of Congenital Journal of Hypothy-Roidism in India - a Mini Review Prabhu SR. Dyshormonogenesis emerging as a predominant cause of Congenital Journal of Hypothy-roidism in India - A Mini Review. J Pediatr Pediatr Med. 2018 2(4): 1-6 Journal of ; Pediatrics and Journal of Pediatrics and Pediatric Medicine Pediatric Medicine Mini Review Open Access Dyshormonogenesis Emerging as a Predominant Cause of Congenital Hypothyroidism in India - A Mini Review Sudha Rathna Prabhu* The Tamil Nadu Dr MGR Medical University , Chennai , Tamil Nadu , India ABSTRACT Article Info Congenital hypothyroidism (CH) is one of the most common preventable and Article Notes Received: May 02, 2018 treatable cause of intellectual impairment in children. Among known etiologies Accepted: July 04, 2018 dysgenesis due to abnormal anatomical development and dyshormonogenesis as a result of deranged physiological functioning of fetal thyroid gland. account *Correspondence: for at least 90 % of causes of CH. While review of literature report thyroid Dr. Sudha Rathna Prabhu, MBBS, DNB, (PhD), Pediatrician dysgenesis as the most common etiology of CH currently focus is on iodine and Research Scholar in Maternal And Child Health at status adequacy in women before and during pregnancy and after delivery and Institute of Obstetrics and Gynaecology Hospital for Women & Institute of Child Health and Hospital for Children, Egmore, lactation. Worldwide reports of previously iodine sufficient countries declared Chennai, Tamil Nadu, India; Affiliated to The Tamil Nadu Dr presently as iodine insufficient and recent publications of several Indian states MGR Medical University, Chennai, Tamil Nadu, India; consuming lesser amounts of iodized salt seem to indicate that iodine related Email: [email protected]; pathophysiological factors are emerging as predominant etiologies of CH. The [email protected]. most vulnerable pregnant women and newborns are prone to be affected with iodine imbalances leading to pregnancy and perinatal related complications. © 2018 Prabhu SR. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License. Analysis of demographic, biochemical, clinical and statistical data by Indian Council of Medical Research (ICMR) in a multi-centric pilot study on congenital hypothyroidism has clearly shown that dyshormonogenesis is a leading cause of CH in neonates born in India. The need of the hour is to consider mandatory newborn screening for CH in all live newborns and further conduct country wise Keywords Congenital hypothyroidism ethnic and culture oriented research studies with special emphasis on iodine Iodine deficiency disorders status, genetic predispositions and lifestyle changes impact on all vulnerable Dyshormonogenesis populations and design effective early therapeutic strategies for management Intellectual impairment of CH to prevent intellectual impairment. Iodized salt; Goiter Urinary iodine levels Introduction Globally, malnutrition both as under and over nutrition is a major health hazard and the most vulnerable are women and children1. Among essential micronutrients iodine is vital for normal development of thyroid gland. Most of the iodine uptake takes place inside thyroid gland and hormones synthesis and functions are entirely dependent on the bioavailability of iodine in consumed diet. Risk factors causing iodine imbalances are thus prone to affect thyroid gland and initiate a cascade of biochemical changes. This leads further to a spectrum of endocrine related metabolic vulnerable human biological systems and pose a constant threat to thedisorders entire referredlife time ofto anas individualiodine deficiency from in disordersutero conception (IDD) within stage cause of preventable brain damage2,3 and most of consequences of till senility. Worldwide iodine deficiency constitute the single1 .largest When predisposing socio demographic factors favouring malnutrition operateIDD are irreversiblewithin vulnerable but preventable population when groups, intervened detrimental early effects are inevitable and most severe health impact occurs in maternal Page 1 of 6 Prabhu SR. Dyshormonogenesis emerging as a predominant cause of Congenital Journal of Pediatrics and Pediatric Medicine Hypothyroidism in India - A Mini Review. J Pediatr Pediatr Med. 2018; 2(4): 1-6 and neonatal populations. Congenital hypothyroidism disorders may be dysgenetic due to anatomic defects or dyshormonogenetic due to impaired physiological endocrine cause of mental impairment in children and is maturation , synthesis and functioning of thyroid hormones (CH) is one of the most common preventable1-3 resulting and in decreased treatable and / or absence of biological actions of the thyroid gland. usually caused by iodine deficiency cells.Thyroid form gland thyroid is usually anlage visible by embryonic day (E)evolves E20 Risk Factors in CH to E22 when “specification”15 of endodermal epithelium While Western literature report dysgenesis as most thyroid gland development and.Normal maturation embryology with evolution in its first stage around two processes which are fetal in this process results in thyroid agenesis. As a second common etiology of CH, dyshormonogenesis (DH) seems stageof the ofhypothalamic-pituitary-thyroid early morphogenesis thyroid anlageaxis and forms any defecta bud tocommoner dyshormonogenesis in Indian population. particularly Recently in Asian published population studies4-6. that proliferates and migrates and then becomes bilobed are reporting increase in CH prevalence predominantly due results in hemi agenesis while an impaired descent causes Iodine deficiency is on the rise and as per National Health anaround ectopic day typeE48 ofto thyroidE50. Any tissue error or. Thefaulty physiological lobulation and Nutrition Examination Survey (NHANES 2005–2008) component of thyroid hormones secretions15-17 begins around survey in USA ,57% of pregnant women had urinary iodine levels7 less than 150 mcg /L suggestive of iodine receptors initiate their production. The maturity of gland haveinsufficiency an inadequate.As per iodine recent intake global and estimate, over half the1.88 children billion 10-11 weeks of age when thyroid peroxidase thyrotropin people are at risk of iodine deficiency. 241 million children Africa , occurs in and around 2516. weeksAt this of stagegestation defects as is inevidenced protein therewith insufficient 8,9is a gradual iodine rise in intake number live of in children South-East with Asia thyroid and1,6,8 synthesisby a progressive will result rise inin thedyshormonogenesis ratio of free thyroxine a disorder (FT4) dyshormonogenesis. Among Indian compared populations to thyroid based dysgenesis.studies ofto thethyrotropin thyroid gland(TSH) resulting in a deranged maturation Major regional risk factors attributed and observed in synthesis or disorderly functioning of gland resulting in are consanguineous impaired thyroid hormones synthesis . marriages, practice of marriages 10,11among natives of the 16,17 ICMR pilot study at Chennai centre Global status: According to WHO and International same district and caste groups particularly 12in South India. in siblings has been reported by the author and this mini Council for the Control of Iodine Deficiency Disorders A scientific letter on dyshormonogenesis as etiology of CH differences in incidence of congenital hypothyroidism review is an attempt to further unfold etiopathogenesis of (ICCIDD) worldwide data on iodine status, regional 1,2. are suggested to be more likely due to iodine deficiency congenitalConcept hypothyroidism of “Golden Period” in Indian for population. intervention: The time period from conception till two years of age represents thethyroid globe disorders , research rather studies than on etiopathologicalethnic affiliation factorsIodine of deficiency is the main cause of goiter in all ages. Across environmentalthe first 1000 days factors of a baby during and isembryonic referred to asand “GOLDEN foetal primary congenital hypothyroidism ( PCH ) report that developmentPERIOD “when with fetal risk programming of diseases in links later nutritionallife13 and dyshormonogenesis80 % to 85 % are due as to athyroid result agenesis of defective , dysgenesis enzymatic and deiodinationectopic thyroid metabolic while remaining disorders 15 %within to 20 %the are thyroid due to period provide best of health outcomes of affected. Detection babies. gland and treatment of specific diseases during this crucial from 7-9Turkey will help develop their cognitive abilities. This normal .In contrast18 to several previous results , a study. In normal children exposure to time oriented stimuli has reported thyroid dysgenesis in 52.2% andTamam dyshormonogenesis et al in which dyshormonogenesisin 47.8% of the study was population etiology becomephenomenon adults. occurs The same because phenomenon a direct link applies exists to betweenchildren Similar results19 were observed in another study by early exposure and level of success of these children as they who are diagnosed with congenital hypothyroidism during hypothyroidism. Multiple factors which include mainly familial,in 44% ofmaternal, subjects neonatalwith permanent and environmental primary congenital factors is available for potential interventions and for effective seem to have combined etiological roles in occurrence of healththe same outcomes GOLDEN14. PERIODA mini review when on “window thyroid of gland opportunity” anatomy, physiological factors operating during embryonic stages of CH.Current status in India: developmentembryology
Recommended publications
  • Ectopic Thyroid Gland- Presentation at Childhood, Adolescent and Adult Life
    CASE REPORT Ectopic thyroid gland- presentation at childhood, adolescent and adult life 1Md. Sunny Anam Chowdhury, 2Mohshi Um Mokaddema, 2Tanzina Naushin, 2Simoon Salekin, 2Nabeel Fahmi Ali, 2Fatima Begum, 2Sadia Sultana 1 Institute of Nuclear Medicine and Allied Sciences, Bogra 2National Institute of Nuclear Medicine and Allied sciences For correspondence: Dr. Md. Sunny Anam Chowdhury, Medical Officer, Institute of Nuclear Medicine And Allied Sciences, Post Box no- 60, Bogra- 5800, e-mail- [email protected] ABSTRACT Ectopic thyroid is a rare entity that can appear at any age with different presentations. In this study we are reporting four cases of ectopic thyroid gland at different ages; two cases at childhood, one at adolescent and one at adult life. Among the two children, one having ectopic thyroid at the level of hyoid bone, presented with anterior neck swelling with no other symptom and another one having a lingual ectopic thyroid presented with features of hypothyroidism and obstructive features. The cases of adolescent and adult age are very rare cases of dual ectopic thyroid and ectopic thyroid tissue coexisting with normal thyroid gland respectively. Both of them presented with anterior neck swelling, with additional complaints of dysphagia and foreign body sensation by the adolescent patient. All the cases, ectopic thyroids were detected by Ultrasonogram and confirmed by radionuclide (99m Tc) thyroid scan. INTRODUCTION Ectopic thyroid refers to all cases in which the thyroid gland is found in any location other than the normal anterior neck region between the second and fourth tracheal cartilage. It is the most frequent form of thyroid dysgenesis, accounting 48-61% of the cases (1).
    [Show full text]
  • Hypothyroidism
    Hypothyroidism Alejandro Diaz, MD,*† Elizabeth G. Lipman Diaz, PhD, CPNP‡ *Miami Children’s Hospital, Miami, FL †The Herbert Wertheim College of Medicine, Florida International University, Miami, FL ‡University of Miami School of Nursing and Health Studies, Miami, FL Educational Gap Congenital hypothyroidism is one the most common causes of preventable intellectual disability. Awareness that not all cases are detected by the newborn screening is important, particularly because early diagnosis and treatment are essential in preserving cognitive abilities. Objectives After completing this article, readers should be able to: 1. Identify the causes of congenital and acquired hypothyroidism in infants and children. 2. Interpret an abnormal newborn screening result and understand indications for further evaluation and treatment. 3. Recognize clinical signs and symptoms of hypothyroidism. 4. Understand the importance of early diagnosis and treatment of congenital hypothyroidism. 5. Understand the presentation, diagnostic process, treatment, and prognosis of Hashimoto thyroiditis. 6. Differentiate thyroid-binding globulin deficiency from central hypothyroidism. AUTHOR DISCLOSURE Drs Diaz and Lipman Diaz have disclosed no financial relationships 7. Identify sick euthyroid syndrome and other causes of abnormal thyroid relevant to this article. This commentary does function test results. not contain a discussion of an unapproved/ investigative use of a commercial product/ device. ABBREVIATIONS CH congenital hypothyroidism BACKGROUND FT3 free triiodothyronine FT4 free thyroxine The thyroid gland produces hormones that have important functions related to energy HT Hashimoto thyroiditis metabolism, control of body temperature, growth, bone development, and maturation LT4 levothyroxine of the central nervous system, among other metabolic processes throughout the body. rT3 reverse triiodothyronine The thyroid gland develops from the endodermal pharynx.
    [Show full text]
  • Long-Term Outcome of Patients with TPO Mutations
    Journal of Clinical Medicine Article Long-Term Outcome of Patients with TPO Mutations Leraz Tobias 1,* , Ghadir Elias-Assad 2,3, Morad Khayat 4, Osnat Admoni 2, Shlomo Almashanu 5 and Yardena Tenenbaum-Rakover 2,3 1 Pediatric Department B, Ha’Emek Medical Center, Afula 1834111, Israel 2 Pediatric Endocrine Institute, Ha’Emek Medical Center, Afula 1834111, Israel; [email protected] (G.E.-A.); [email protected] (O.A.); [email protected] (Y.T.-R.) 3 Technion Institute of Technology, Rappaport Faculty of Medicine, Haifa 3200003, Israel 4 Genetic Institute, Ha’Emek Medical Center, Afula 1834111, Israel; [email protected] 5 The National Newborn Screening Program, Ministry of Health, Tel-Hashomer, Ramat Gan 5262100, Israel; [email protected] * Correspondence: [email protected] Abstract: Introduction: Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect causing congenital hypothyroidism (CH). We aimed to characterize the long-term outcome of patients with TPO deficiency. Methods: Clinical and genetic data were collected retrospectively. Results: Thirty-three patients with primary CH caused by TPO deficiency were enrolled. The follow-up period was up to 43 years. Over time, 20 patients (61%) developed MNG. Eight patients (24%) underwent thyroidectomy: one of them had minimal invasive follicular thyroid carcinoma. No association was found between elevated lifetime TSH levels and the development of goiter over the years. Conclusions: This cohort represents the largest long-term follow up of patients with Citation: Tobias, L.; Elias-Assad, G.; TPO deficiency. Our results indicate that elevated TSH alone cannot explain the high rate of goiter Khayat, M.; Admoni, O.; Almashanu, occurrence in patients with TPO deficiency, suggesting additional factors in goiter development.
    [Show full text]
  • Clinical Genetics of Defects in Thyroid Hormone Synthesis
    Review article https://doi.org/10.6065/apem.2018.23.4.169 Ann Pediatr Endocrinol Metab 2018;23:169-175 Clinical genetics of defects in thyroid hormone synthesis Min Jung Kwak, MD, PhD Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of Department of Pediatrics, Pusan congenital hypothyroidism (CH). Seven genes are known to be associated with National University Hospital, Pusan thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, National University School of Medicine, Busan, Korea DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach. Keywords: Congenital hypothyroidism, Dyshormonogenesis, Genetics, Whole exome sequencing Introduction Congenital hypothyroidism (CH) is the most common pediatric endocrinological disorder and an important cause of preventable mental retardation.1) After the introduction of neonatal screening for CH, the incidence was 1 case per 3,684 live births,2) but the incidence has increased to 1 case per 1,000–2,000 live births of late.3) Primary CH is usually caused by abnormal thyroid gland development, but 10%–15% of cases are caused
    [Show full text]
  • Download Download
    Original Article Clinical, diagnostic, and follow-up characteristics of children with ectopic thyroid: An 11-year tertiary referral center experience Fouzea Mol Saidalikutty1, Raghupathy Palany2, Narasimhan Anirudhan3, Ayyavoo Ahila4 From 1Consultant Pediatrician, 2Senior Pediatric Endocrinologist, Department of Pediatrics and Pediatric Endocrinology, 3Consultant Nuclear Medicine, Department of Nuclear Medicine, G. Kuppuswamy Naidu Memorial Hospital, Coimbatore, Tamil Nadu, India, 4Honorary Research Fellow, Liggins Institute, The University of Auckland, New Zealand ABSTRACT Background: Information on the clinical data and follow-up of ectopic thyroid (ET) in pediatric population in India is scanty; hence, this study aims to add more information on this entity. Objective: This study was undertaken to analyze the clinical, biochemical characteristics, and scintigraphy findings at diagnosis and follow-up response to thyroxine (T4) replacement in children with ET. Methods: This study was conducted at the Paediatric Endocrinology Department of Tertiary Center from January 2005 to March 2016. In children with abnormal thyroid function, scintigraphy was done before T4 replacement to establish the diagnosis of permanent congenital hypothyroidism. Thyroid dose modification, growth monitoring was done on follow-up. In infants and children without an etiological diagnosis, at ≥3 years of age, thyroid function test, scintigraphy was done after stopping treatment for 4 weeks. The initial clinical, biochemical parameters, follow-up data were analyzed. Results: Among 54 children with ET, 39 (72.2%) were girls. The mean age of presentation was 3.3 years and the average age at diagnosis on the basis of presentation with isolated short stature was 7.3 years. Developmental delay was the predominant symptom (24.9%) in children between age 1 month and 5 years.
    [Show full text]
  • Congenital Hypothyrodism and Its Oral Manifestations Hipotiroidismo Congénito Y Sus Manifestaciones Bucales
    www.medigraphic.org.mx Revista Odontológica Mexicana Facultad de Odontología Vol. 18, No. 2 April-June 2014 pp 133-138 CASE REPORT Congenital hypothyrodism and its oral manifestations Hipotiroidismo congénito y sus manifestaciones bucales Marxy E Reynoso Rodríguez,* María A Monter García,§ Ignacio Sánchez FloresII ABSTRACT RESUMEN Hypothyroidism is one of the most common thyroid disorders. El hipotiroidismo es el más común de los trastornos de la tiroides, Hypothyroidism can be congenital in cases when the thyroid puede ser congénito si la glándula tiroides no se desarrolla correc- gland does not develop normally. Female predominance is a tamente (hipotiroidismo congénito). La predominancia femenina es characteristic of congenital hypothyroidism. Dental characteristics una característica. Entre las características odontológicas del hi- of hypothyroidism are thick lips, a large-sized tongue which, due potiroidismo se observan labios gruesos, lengua de gran tamaño, to its position, can elicit anterior open bite as well as fanned-out que debido a su posición suele producir mordida abierta anterior y anterior teeth. In these cases, delayed eruption of primary and dientes anteriores en abanico, destaca que la dentición temporal y permanent dentitions can be observed, and teeth, even though permanente presentan un retardo eruptivo característico y, aunque normal-sized, are crowded due to the small-sized jaws. This study los dientes son de tamaño normal, suelen estar apiñados por el ta- presents clinical cases of female patients diagnosed with congenital maño pequeño de los maxilares. Se presentan dos casos clínicos hypothyroidism who sought treatment at the Dental Pediatrics Unit de pacientes de sexo femenino que acuden a la clínica de Especia- of the Autonomous University of the State of Mexico.
    [Show full text]
  • Congenital Hypothyroidism: Update and Perspectives
    6 179 C Peters and others Congenital hypothyroidism: 179:6 R297–R317 Review update DIAGNOSIS OF ENDOCRINE DISEASE Congenital hypothyroidism: update and perspectives C Peters1, A S P van Trotsenburg2 and N Schoenmakers3 1Department of Endocrinology, Great Ormond Street Hospital for Children, London, UK, 2Emma Children’s, Correspondence Amsterdam UMC, University of Amsterdam, Pediatric Endcorinology, Amsterdam, the Netherlands, and 3University should be addressed of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic to N Schoenmakers Science, Addenbrooke’s Hospital, Cambridge, UK Email [email protected] Abstract Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of the thyroid gland as a result of hypothalamic or pituitary pathology. Primary CH is the most common neonatal endocrine disorder, traditionally subdivided into thyroid dysgenesis (TD), referring to a spectrum of thyroid developmental abnormalities, and dyshormonogenesis, where a defective molecular pathway for thyroid hormonogenesis results in failure of hormone production by a structurally intact gland. Delayed treatment of neonatal hypothyroidism may result in profound neurodevelopmental delay; therefore, CH is screened for in developed countries to facilitate prompt diagnosis. Central congenital hypothyroidism (CCH) is a rarer entity which may occur in isolation, or (more frequently) in association with additional pituitary hormone deficits. CCH is most commonly defined biochemically by failure of appropriate TSH elevation despite subnormal thyroid hormone levels and will therefore evade diagnosis in primary, TSH-based CH-screening programmes. This review will discuss recent genetic aetiological advances in CH and summarize epidemiological data and clinical diagnostic challenges, focussing on primary CH and isolated CCH.
    [Show full text]
  • PDF File for Saving and Printing
    CLINICAL THYROIDOLOGY FOR THE PUBLIC A publication of the American Thyroid Association HYPOTHYROIDISM Delaying ultrasonography in congenital hypothyroidism www .thyroid .org may give misleading results. BACKGROUND SUMMARY OF THE STUDY Congenital hypothyroidism is a disorder in which babies A total of 44 patients with a diagnosis of congenital are born with low thyroid hormone levels, either because hypothyroidism from the state of Minas Gerais, Brazil, the thyroid did not develop properly (thyroid dysgenesis) were invited to have thyroid US at the Universidade or because the thyroid has problems in one of the needed Federal do Triângulo Mineiro in Uberaba, Brazil. All steps to make thyroid hormones (thyroid dyshormonogen- except three accepted the invitation and participated in esis). Congenital hypothyroidism is estimated to occur in the study (23 females and 18 males), ranging in age from 1:1700 newborns in the most recent literature and, if left 0.2 to 45 years. All were receiving treatment and were untreated or if treatment is delayed, it irreversibly affects considered to have congenital hypothyroidism, except brain development. Thyroid scintigraphy is a procedure for 1 patient, whose elevation in TSH was transient and in which a radioactive compound which is taken up by had resolved. Patients were divided in two groups: Group the thyroid gland is used to determine the location of 1 (23 patients) included patients diagnosed by the State the gland or to confirm the absence of thyroid tissue. Neonatal Screening program and Group 2 (21 patients) This procedure needs to be done when the child is not included patients who had been followed in the city on thyroid hormone, either prior to starting treatment or of Uberaba’s Municipal Health Unit.
    [Show full text]
  • Case 9377 Congenital Hypothyroidism with Ectopic Lingual Thyroid
    Case 9377 Congenital hypothyroidism with ectopic lingual thyroid Cabral P1, Silva C2, Vinhais S3 Section: Head & Neck Imaging Published: 2012, Jan. 21 Patient: 50 year(s), female Authors' Institution 1) Department of Radiology of Hospital Prof. Dr. Fernando Fonseca, Amadora, Portugal 2) Department of Radiology of Hospital Santa Maria, Lisboa, Portugal 3) Department of Radiology of Instituto Português de Oncologia Francisco Gentil, Lisboa, Portugal Clinical History A female patient, 50 years old, non-Portuguese-speaking Eastern Europe immigrant, was referred to our institution because of a low stature (1.37 meters), with foreshortened skull base, short wide face and coarse dry skin. The laboratory analysis showed elevated TSH and low T4 levels with normal T3 levels suggesting primary hypothyroidism with residual hormonal production. Imaging Findings The first examination performed was a neck ultrasound that could not manage to document the existence of the thyroid gland in its expected infrahyoid location. The rest of the neck ultrasound study was apparently unremarkable. Common localisations for ectopic thyroid tissue like the tongue, sublingual and pre-laryngeal spaces were scanned without any relevant finding (Fig. 1). Further radiological investigation of possible ectopic thyroid tissue was followed by a contrast enhanced-CT study which revealed a contrast enhancing well defined round nodule, 18 mm in diameter, lying on the base of the tongue, protruding in the pre-epiglottic space (Fig. 2-4). Given the patient's clinical context, the nodule was considered to be ectopic thyroid tissue. The scintigraphic study with iodine-131 was not considered essential for patient management and was not carried out in this patient.
    [Show full text]
  • Congenital Hypothyroidism
    Congenital hypothyroidism Description Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland ( hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower- than-normal levels of these important hormones. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism. Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth.
    [Show full text]
  • Thyroid Disorders in Children and Adolescentsa Review
    Clinical Review & Education JAMA Pediatrics | Review Thyroid Disorders in Children and Adolescents A Review Patrick Hanley, MD; Katherine Lord, MD; Andrew J. Bauer, MD CME Quiz at IMPORTANCE Normal thyroid gland function is critical for early neurocognitive development, jamanetworkcme.com and as well as for growth and development throughout childhood and adolescence. Thyroid CME Questions page 1031 disorders are common, and attention to physical examination findings, combined with selected laboratory and radiologic tools, aids in the early diagnosis and treatment. OBJECTIVE To provide a practical review of the presentation, evaluation, and treatment of thyroid disorders commonly encountered in a primary care practice. EVIDENCE REVIEW We performed a literature review using the PubMed database. Results focused on reviews and articles published from January 1, 2010, through December 31, 2015. Articles published earlier than 2010 were included when appropriate for historical perspective. Our review emphasized evidence-based management practices for the clinician, as well as consensus statements and guidelines. A total of 479 articles for critical review were selected based on their relevance to the incidence, pathophysiology, laboratory evaluation, radiological assessment, and treatment of hypothyroidism, hyperthyroidism, thyroid nodules, and thyroid cancer in children and adolescents. Eighty-three publications were selected for inclusion in this article based on their relevance to these topics. FINDINGS The primary care physician is often the first health care professional responsible for initiating the evaluation of a thyroid disorder in children and adolescents. Patients may be referred secondary to an abnormal newborn screening, self-referred after a caregiver raises concern, or identified to be at risk of a thyroid disorder based on findings from a routine well-child visit.
    [Show full text]
  • Endocrine Test Selection and Interpretation
    The Quest Diagnostics Manual Endocrinology Test Selection and Interpretation Fourth Edition The Quest Diagnostics Manual Endocrinology Test Selection and Interpretation Fourth Edition Edited by: Delbert A. Fisher, MD Senior Science Officer Quest Diagnostics Nichols Institute Professor Emeritus, Pediatrics and Medicine UCLA School of Medicine Consulting Editors: Wael Salameh, MD, FACP Medical Director, Endocrinology/Metabolism Quest Diagnostics Nichols Institute San Juan Capistrano, CA Associate Clinical Professor of Medicine, David Geffen School of Medicine at UCLA Richard W. Furlanetto, MD, PhD Medical Director, Endocrinology/Metabolism Quest Diagnostics Nichols Institute Chantilly, VA ©2007 Quest Diagnostics Incorporated. All rights reserved. Fourth Edition Printed in the United States of America Quest, Quest Diagnostics, the associated logo, Nichols Institute, and all associated Quest Diagnostics marks are the trademarks of Quest Diagnostics. All third party marks − ®' and ™' − are the property of their respective owners. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, and information storage and retrieval system, without permission in writing from the publisher. Address inquiries to the Medical Information Department, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690-6130. Previous editions copyrighted in 1996, 1998, and 2004. Re-order # IG1984 Forward Quest Diagnostics Nichols Institute has been
    [Show full text]