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14-September-2008 18:02:45 - hypothyroidism This article is about a medical condition. For the chemical compound, CHT, see Cycloheptatriene. Congenital hypothyroidism Classification and external resources ICD-10 E00., E03.0, E03.1 ICD-9 243 Congenital hypothyroidism CHT is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent mental retardation. Treatment consists of a daily dose of thyroid hormone thyroxine by mouth. Because the treatment is simple, effective, and inexpensive, nearly all of the developed world practices newborn screening to detect and treat congenital hypothyroidism in the first weeks of life. Contents 1 Causes 2 Diagnostic evaluation 3 Treatment 4 Symptoms 5 Prognosis 6 References 7 See also Causes Around the world, the most common cause of congenital hypothyroidism is iodine deficiency, but in most of the developed world and areas of adequate environmental iodine, cases are due to a combination of known and unknown causes. Most commonly there is a defect of development of the thyroid gland itself, resulting in an absent athyreosis or underdeveloped hypoplastic gland. A hypoplastic gland may develop higher in the neck or even in the back of the tongue. A gland in the wrong place is referred to as ectopic, and an ectopic gland at the base or back of the tongue is a lingual thyroid. Some of these cases of developmentally abnormal glands result from genetic defects, and some are sporadic, with no identifiable cause. One Japanese study found a ststistical correlation between certain organochlorine insecticides and dioxin-like chemicals in maternal milk samples and congenital hypothyroidism.1 Congenital hypothyroidism can also occur due to genetic defects of thyroxine or triiodothyronine synthesis within a structurally normal gland. Among specific defects are thyrotropin TSH resistance, iodine trapping defect, organification defect, thyroglobulin, and iodotyrosine deiodinase deficiency. In a small proportion of cases of congenital hypothyroidism, the defect is due to a deficiency of thyroid stimulating hormone, either isolated or as part of congenital hypopituitarism. In some instances, hypothyroidism detected by screening may be transient. The most common cause of this is the presence of maternal antibodies which temporarily impair thyroid function for several weeks. Cretinism is an old term for the state of mental and physical retardation resulting from untreated congenital hypothyroidism, usually due to iodine deficiency from birth because of low iodine levels in the soil and local food sources. The term, like so many other 19th century medical terms, acquired pejorative connotations as it became used in lay speech. It is now rarely used by physicians. Diagnostic evaluation In the developed world, nearly all cases of congenital hypothyroidism are detected by the newborn screening program. These are based on measurement of TSH or thyroxine T4 on the second or third day of life. If the TSH is high, or the T4 low, the infant's doctor and parents are called and a referral to a pediatric endocrinologist is recommended to confirm the diagnosis and initiate treatment. Often a technetium thyroid scan is performed to detect a structurally abnormal gland. Treatment The goal of newborn screening programs is to detect and start treatment within the first 1-2 weeks of life. Treatment consists of a daily dose of thyroxine, available as a small tablet. The generic name is levothyroxine, and several brands are available. Commonly used brands in North America are Synthroid, Levoxyl, Unithroid, and Levothroid. The tablet is crushed and given to the infant with a small amount of water or milk. The most commonly recommended dose range is 10-15 μg/kg daily, typically 37.5 or 44 μg.2 Within a few weeks, the T4 and TSH levels are rechecked to confirm that they are being normalized by treatment. As the child grows up, these levels are checked regularly to maintain the right dose. The dose increases as the child grows. Symptoms Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as a problem: excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, exaggerated jaundice, and low body temperature. If fetal deficiency was severe because of complete absence athyreosis of the gland, physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue macroglossia. In the era before newborn screening, less than half of cases of severe hypothyroidism were recognized in the first month of life. As the months proceeded, these infants would grow poorly and be delayed in their development. By several years of age, they would display the recognizable facial and body features of cretinism. Persistence of severe, untreated hypothyroidism resulted in severe mental impairment, with an IQ below 80 in the majority. Most of these children eventually ended up in institutional care. Prognosis Most children born with congenital hypothyroidism and correctly treated with thyroxine grow and develop normally in all respects. Even most of those with athyreosis and undetectable T4 levels at birth develop with normal intelligence, although as a population academic performance tends to be below that of siblings and mild learning problems occur in some.3 Congenital hypothyroidism is the most common preventable cause of mental retardation. Few treatments in the practice of medicine provide as large a benefit for as small an effort. References ^ Nagayama J, Kohno H, Kunisue T, et al 2007. Concentrations of organochlorine pollutants in mothers who gave birth to neonates with congenital hypothyroidism. Chemosphere 68 5: 972-6. doi:10.1016/j.chemosphere.2007.01.010. PMID 17307219. ^ LaFranchi SH, Austin J 2007. How should we be treating children with congenital hypothyroidism?. J. Pediatr. Endocrinol. Metab. 20 5: 559-78. PMID 17642417. ^ Moltz KC, Postellon DC 1994. Congenital hypothyroidism and mental development. Comprehensive therapy 20 6: 342-6. PMID 8062543. See also thyroid hypothyroidism v d e Endocrine pathology: endocrine diseases E00-35, 240-259 Pancreas/ glucose metabolism Diabetes mellitus types: type 1, type 2, MODY, complications: coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy Hypoglycemia - Hyperinsulinism - Zollinger-Ellison syndrome - insulin receptor Rabson-Mendenhall syndrome - Insulin resistance Hypothalamic/ pituitary axes Pituitary Hyperpituitarism Acromegaly, Hyperprolactinaemia, SIADH Hypopituitarism Sheehan's syndrome, Kallmann syndrome, Growth hormone deficiency, Diabetes insipidus Adiposogenital dystrophy - Empty sella syndrome - Pituitary apoplexy - ACTH deficiency Thyroid Hypothyroidism Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre, Myxedema Hyperthyroidism Graves disease, Toxic multinodular goitre, Teratoma with thyroid tissue or Struma ovarii Thyroiditis De Quervain's thyroiditis, Hashimoto's thyroiditis, Riedel's thyroiditis Euthyroid sick syndrome - Thyroid hormone resistance - Thyroid nodule Parathyroid Hypoparathyroidism Pseudohypoparathyroidism - Hyperparathyroidism Primary, Secondary, Tertiary Adrenal Adrenocortical hyperfunction: Cushing's syndrome Nelson's syndrome, Pseudo-Cushing's syndrome - Hyperaldosteronism Conn syndrome, Bartter syndrome CAH Lipoid, 3β, 11β, 17α, 21α Adrenal insufficiency Addison's disease, Waterhouse-Friderichsen syndrome - Hypoaldosteronism Gonads ovarian Polycystic ovary syndrome, Premature ovarian failure testicular 5-alpha-reductase deficiency, 17-beta-hydroxysteroid dehydrogenase deficiency general Hypogonadism, Delayed puberty, Precocious puberty Other Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Gigantism - Short stature Laron syndrome, Psychogenic dwarfism - Multiple endocrine neoplasia 1, 2 - Progeria - Woodhouse-Sakati syndrome - thymus Abscess of thymus, Thymus hyperplasia see also congenital, neoplasia Retrieved from http://en..org/wiki/Congenital_hypothyroidism Categories: Congenital disorders Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Deutsch עברית Nederlands Svenska Tiếng Việt This page was last modified on 26 August 2008, at 20:32
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