1、CONGENITAL HYPOTHYROIDISM,5th Year Intern- Amila Kannangara,1,Clinical scenario.,A pregnant mother with her husband comes to see you. She is in her third trimester. Both of them are lawyers. They have recently heard about congenital hypothyroidism in Television and wants to discuss with you how to k
2、now if their unborn child is affected.,2,How will you advice them ?,Content,1.What is congenital Hypothyroidism?2.Causes behind CH?3.Signs and symptoms of CH?4.How to diagnose CH?5.Is CH inherited?6.How to test for CH?7.Treatment of CH?,3,What is Congenital Hypothyroidism?,Is a state of inadequate t
3、hyroid hormone production in newborn infants.,4,Babies who do not have enough thyroid hormone are often slow to grow, are sluggish, and have learning delays and other specific health problems.,What are the causes for this condition?,1. Missing or misplaced thyroid gland,5,Most babies with CH are mis
4、sing their thyroid gland or have a thyroid that did not develop properly. In some cases, the thyroid gland may be smaller than usual or may not be located in the correct place. In some children with CH, the thyroid gland may instead be under the tongue or on the side of the neck.,2. Hereditary cause
5、s,Children with the inherited type of CH do not make enough thyroid hormone even though their thyroid gland appears normal in size and shape.,3. Maternal iodine deficiency,4. Maternal thyroid condition and medications,5. Multiple births,what problems occur?,. Poor feeding and poor suck . Low activit
6、y level . Fewer bowel movements or constipation . Swelling around the eyes . Cool, pale, dry skin . the fontanel that closes late,6,1. Jaundice,2. Hypotonia,3. Umbilical hernia,4. Large swollen tongue,If left untreated,Coarse, swollen facial featuresBreathing problemsHoarse-sounding cryDelayed miles
7、tones (sitting, crawling, walking, talking)Wide, short handsPoor weight gain and growthGoiter (enlarged thyroid gland causing a lump in the neck)AnemiaSlow heart rateFluid build-up under the skin (called myxedema)Hearing loss,7,How to diagnose CH?,Family history should be carefully reviewed for info
8、rmation about similarly affected infants or family members with unexplained mental retardation.,8,Maternal history of a thyroid disorder and mode of treatment (whether before or during pregnancy),What is the chance of CH being inherited?,About 80 to 85% of the time, CH is caused when the thyroid gla
9、nd does not develop at all, is misplaced, or is too small.In about 15% of cases of CH, the thyroid gland appears normal but the amount of thyroid hormone made is reduced. These cases are more likely to be inherited, but not always.Most of the hereditary types of CH are inherited in an autosomal rece
10、ssive manner.When both parents are carriers, there is a 25% chance in each pregnancy for the child to have CH. There is a 50% chance for the child to be a carrier, just like the parents. And, there is a 25% chance for the child to have two working genes.,9,If a child is having inherited form of CH,
11、is genetic testing available?,If a genetic doctor suspects an inherited form of CH, genetic testing may be available to attempt to determine the gene changes that caused the CH. DNA testing, can be done on a blood sample.,10,Can it be tested during pregnancy?,CH is not usually detectable before birt
12、h. For those that may have an inherited form, genetic testing can confirm only a portion of the hereditary cases.,11,However, prenatal testing is rarely done for CH because treatment is so effective.,If a child has a hereditary form of CH, and if the gene change(s) have been found in the child, DNA
13、testing is possible during future pregnancies.,What other testing is available?,Blood tests to detect the amount of thyroid hormone (T4) thyroid stimulating hormone (TSH),12,. If a child has a positive newborn screen for CH,Thyroid uptake and scan or Ultrasound,What is the treatment for CH?,Medicati
14、on L-thyroxine .The doctor and endocrinologist will decide how much and how often. .Doctors will increase the amount of medication as child grows.,13,* L-thyroxine needs to be taken on a daily basis through childs whole life.,Monitoring - weight, height, development and overall health. - regular blo
15、od tests -level of thyroid hormone.,14,Developmental Evaluation - If child show delays in certain areas of learning or speech, extra help can be arranged.,What happens when CH is treated?,Started soon after birth -usually have normal growth and intelligence and can live typical and healthy lives.,15
16、,If treatment is not started until several months after birth, delays or learning problems may occur. The level of delay varies from child to child.,Epidemiological statistics,Does CH happen more frequently in a certain ethnic group?It happens more often in babies from parts of the world in which th
17、ere is not enough iodine in the food and water. It is also more common in babies of Hispanic and Native American ancestry. It is less common in babies of African-American ancestry.,16,How many people have CH? -About one in every 3000 to 4000 babies born in the United States has CH. -Twice as many gi
18、rls have CH than boys.,Clinical scenario.,A pregnant mother with her husband comes to see you. She is in her third trimester. Both of them are lawyers. They have recently heard about congenital hypothyroidism in TV and wants to discuss with you how to know if their unborn child is affected.How will
19、you advice them ?,17,In summary,Analysis in United States shows about one in every 3000 to 4000 babies born in the has CH. If a child is having CH, 85% -misplaced or missing thyroid gland. 10%-15%-hereditary causes.Normally screening for CH is performed after the child is born. If a child has a here
20、ditary form of CH, and if the gene change(s) have been found in the child, DNA testing is possible during future pregnancies. effectively managed with L-thyroxine and careful monitoring.,18,Any Questions,More Information,MAGIC Foundation (Major Aspects of Growth in Children)www.magicfoundation.orgNational Library of Medicine Genetics Home Reference (Congenital Hypothyroidism)http:/ghr.nlm.nih.gov/condition=congenitalhypothyroidismGenetic Alliancehttp:/www.geneticalliance.orgThe Thyroid Foundation of Americahttp:/www.allthyroid.org/,Thank you,
