CASE STUDY ON CONGENITAL HYPOTHYROIDISM

Submitted by: ANNA CARMELA A. CARAAN BSN 4 sec. 2 Grp.11

Submitted to : MR. Joenie Anilao RN

CASE STUDY

Congenital hypothyroidism

Congenital hypothyroidism (CH) 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 (thyroxin) 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. 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 ec topic, 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 statistical correlation between certain organochlorine insecticides and dioxin-like chemicals in the milk of mothers who had given birth to infants with congenital hypothyroidism.[1]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. Congenital hypothyroidism can also occur

due to genetic defects of thyroxine or triiodot hyronine 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. Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. This can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency. The term endemic cretinism is used to describe clusters of infants with goiter and hypothyroidism in a defined geographic area. Such areas were discovered to be low in iodine, and the cause of endemic cretinism was determined to be iodine deficiency. In the 1920s, adequate dietary intake of iodine was found to prevent endemic goiter and cretinism. Endemic goiter and cretinism are still observed in some areas, such as regions of Bangladesh, Chad, China, Indonesia, Nepal, Peru, and Zaire. The term sporadic cretinism was initially used to describe the random occurrence of cretinism in nonendemic areas. The cause of these abnormalities was identified as nonfunctioning or absent thyroid glands. This led to replacement of the descriptive term sporadic cretinism with the etiologic term congenital hypothyroidism. Treatment with thyroid

replacement therapy was found to elicit some improvement in these infants (see the images below), although many remained impaired. An infant shown a few months after starting thyroid hormone replacement.

The morbidity from congenital hypothyroidism can be reduced to a minimum by early diagnosis and treatment. Although initial preliminary studies were performed using thyroid-stimulating hormone (TSH) levels in cord blood, mass screening was made feasible by the development of radioimmunoassay for TSH and thyroxine (T4) from blood spots on filter paper, obtained for neonatal screening tests.

Medical Management

The primary objective in the management f hypothyroidism is to restore normal metabolic state by replacing the missing hormone. With the exception of certain conditions, the treatment of hypothyroidism requires life-long therapy.

Pharmacologic Therapy T3 [liothyronine sodium (Cytomel)] - is available and there are certain indications for its use. However, for the majority of patients, a form of T4 [levothyroxine sodium (Levoxyl, Synthroid)] is the preferred treatment.

Synthetic levothyroxine (Synthroid or Levothroid) - Preferred preparation for treating hypothyroidism and suppressing nontoxic goiters. - a more stable form of thyroid hormone and requires once a day Dosing, whereas T3 is much shorter-acting and needs to be taken multiple times a day. In the overwhelming majority of patients, synthetic T4 is readily and steadily converted to T3 naturally in the bloodstream, and this conversion is appropriately regulated by the body's tissues.

Nursing management 1. Schedule activities to promote rest and exercise as tolerated. Assist with self- care activities. 2. Monitor patients body temperature and report a decrease from patients baseline value 3. Encourage to increase fluid intake within limits of fluid restriction. Provide foods high in fiber. 4. Monitor bowel movement 5. Monitor RR, depth, pattern, pulse oxymetry and arterial blood gases. 6. Provide stimulation through conversation and nonthreatening activities. 7. Orient patient to time, place, person and situation 8. Explain to the patient and family that change in cognitive and mental function is a result of disease process 9. Monitor patient for increasing signs and symptoms of hypothyroidism such as decreased level of consciousness and decreased VS 10.Assist in ventilator support if respiratory depression occurs

11.Administer prescribed medication (thyroxine) with extreme caution

II. Objectives

After three weeks exposure to community health nursing community, student nurse will be able to: 1. Establish report, gain trust and cooperation of the client and immediate family members.

Hypothyroidism
Defintion Hypothyroidism is defined as a clinical state that results from inadequate production of thyroid hormones. Hypothyroidism is under activity of the thyroid gland that leads to inadequate production of thyroid hormone and a slowing of vital body functions. (Merck Manual of Medical Information, 2nd Home Edition) Anatomy and Physiology

Endocrine System Group of specialized organs and body tissues that produce, store, and secrete chemical substances known as hormones. As the body's chemical messengers, hormones transfer information and instructions from one set of cells to another. Thyroid gland

Anatomy made up of two lobes connected by a narrow band called isthmus these lobes are located on either side of the trachea, inferior to the larynx appears more red than surrounding tissues highly vascular contains numerous thyroid follicles [small spheres filled with proteins (thyroglobulin) to which thyroid hormones are attached]

Physiology

 main function: secretion of thyroid hormones (T3 and T4) through the regulation of thyroid stimulating hormone (TSH) from the pituitary gland, which is in turn controlled by the thyroid stimulating hormone releasing factor( TRF), secreted by the hypothalamus Iodine: required to synthesize thyroid hormones Pathophysiology The thyroid gland develops from the buccopharyngeal cavity between 4 and 10 weeks' gestation. The thyroid arises from the fourth branchial pouches and ultimately ends up as a bilobed organ in the neck. Errors in the formation or migration of thyroid tissue can result in thyroid aplasia, dysplasia, or ectopy. By 10-11 weeks' gestation, the fetal thyroid is capable of producing thyroid hormone. By 18-20 weeks' gestation, blood levels of T4 have reached term levels. The fetal pituitary-thyroid axis is believed to function independently of the maternal pituitary-thyroid axis. The thyroid gland uses tyrosine and iodine to manufacture T4 and triiodothyronine (T3). Iodide is taken into the thyroid follicular cells by an active transport system and then oxidized to iodine by thyroid peroxidase. Organification occurs when iodine is attached to tyrosine molecules attached to thyroglobulin, forming monoiodotyrosine (MIT) and diiodotyrosine (DIT). The coupling of 2 molecules of DIT forms tetraiodothyronine (ie, T4). The coupling of one molecule of MIT and one molecule of DIT forms T3. Thyroglobulin, with T4 and T3 attached, is stored in the follicular lumen. TSH activates the enzymes needed to cleave T4 and T3 from thyroglobulin. In most situations, T4

is the primary hormone produced by and released from the thyroid gland. Inborn errors of thyroid metabolism can result in congenital hypothyroidism in children with anatomically normal thyroid glands. T4 is the primary thyronine produced by the thyroid gland. Only 1040% of circulating T3 is released from the thyroid gland. The remainder is produced by monodeiodination of T4 in peripheral tissues. T3 is the primary mediator of the biologic effects of thyroid hormone and does so by interacting with a specific nuclear receptor. Receptor abnormalities can result in thyroid hormone resistance. The major carrier proteins for circulating thyroid hormones are thyroid-binding globulin (TBG), thyroid-binding prealbumin (TBPA), and albumin. Unbound, or free, T4 accounts for only about 0.03% of circulating T4 and is the portion that is metabolically active. Infants born with low levels of TBG, as in congenital TBG deficiency, have low total T4 levels but are physiologically normal. Familial congenital TBG deficiency can occur as an X-linked recessive or autosomal recessive condition. The contributions of maternal thyroid hormone levels to the fetus are thought to be minimal, but maternal thyroid disease can have a substantial influence on fetal and neonatal thyroid function. Immunoglobulin G (IgG) autoantibodies, as observed in autoimmune thyroiditis, can cross the placenta and inhibit thyroid function. Thioamides used to treat maternal hyperthyroidism can also block fetal thyroid hormone synthesis. Most of these effects are transient.

Radioactive iodine administered to a pregnant woman can ablate the fetus's thyroid gland permanently. The importance of thyroid hormone to brain growth and development is demonstrated by comparing treated and untreated children with congenital hypothyroidism. Thyroid hormone is necessary for normal brain growth and myelination and for normal neuronal connections. The most critical period for the effect of thyroid hormone on brain development is the first few months of life.[2]