1、1 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 know if their unborn child is affected.How will you advice them?21.What is congenit
2、al 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?3Is a state of inadequate thyroid hormone production in newborn infants.Babies who do not have enough thyroid hormone are often slow to grow,are sluggish,and
3、have learning delays and other specific health problems.41.Missing or misplaced thyroid gland Most babies with CH are missing 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 so
4、me children with CH,the thyroid gland may instead be under the tongue or on the side of the neck.2.Hereditary causesChildren 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 deficiency4.Maternal thyroi
5、d condition and medications5.Multiple births5 .Poor feeding and poor suck .Low activity level .Fewer bowel movements or constipation .Swelling around the eyes .Cool,pale,dry skin .the fontanel that closes late 1.Jaundice2.Hypotonia3.Umbilical hernia4.Large swollen tongue6Coarse,swollen facial featur
6、esBreathing problemsHoarse-sounding cryDelayed milestones(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 loss7Family history should be care
7、fully reviewed for information about similarly affected infants or family members with unexplained mental retardation.Maternal history of a thyroid disorder and mode of treatment (whether before or during pregnancy)8About 80 to 85%of the time,CH is caused when the thyroid gland does not develop at a
8、ll,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 recessive manner.When both parents
9、 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.9If a genetic doctor suspects an inherited form of CH,genetic testing may be availab
10、le to attempt to determine the gene changes that caused the CH.DNA testing,can be done on a blood sample.10CH is not usually detectable before birth.For those that may have an inherited form,genetic testing can confirm only a portion of the hereditary cases.However,prenatal testing is rarely done fo
11、r 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 testing is possible during future pregnancies.11 Blood tests to detect the amount of thyroid hormone(T4)thyroid stimulating hormone(TSH).If a child has a positive n
12、ewborn screen for CH,Thyroid uptake and scan or Ultrasound12Medication L-thyroxine .The doctor and endocrinologist will decide how much and how often.Doctors will increase the amount of medication as child grows.*L-thyroxine needs to be taken on a daily basis through childs whole life.13Monitoring -
13、weight,height,development and overall health.-regular blood tests-level of thyroid hormone.Developmental Evaluation -If child show delays in certain areas of learning or speech,extra help can be arranged.14Started soon after birth-usually have normal growth and intelligence and can live typical and
14、healthy lives.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.15Does CH happen more frequently in a certain ethnic group?It happens more often in babies from parts of the world in which there is not enou
15、gh 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.How many people have CH?-About one in every 3000 to 4000 babies born in the United States has CH.-Twice as many girls have CH than boys.1
16、6 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 you advice them?17Analysis in United States
17、 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 hereditary form of CH,and if the gene change(s)have been found in
18、the child,DNA testing is possible during future pregnancies.effectively managed with L-thyroxine and careful monitoring.MAGIC Foundation(Major Aspects of Growth in Children)magicfoundation.orgNational Library of Medicine Genetics Home Reference(Congenital Hypothyroidism)ghr.nlm.nih.gov/condition=congenitalhypothyroidismGenetic Alliancegeneticalliance.orgThe Thyroid Foundation of Americaallthyroid.org/谢谢你的阅读v知识就是财富v丰富你的人生
