HYPOTHYROIDISM IN NEWBORN slide .pptx

HYPOTHYROIDISM IN NEWBORN

1. MANAGEMENT OF HYPOTHYROIDISM IN NEWBORN

2. LEARNING OBJECTIVE Identify the etiology of congenital hypothyroidism Describe the sign and symptoms of congenital hypothyroidism Describe the treatment of Congenital hypothyroidism Identify the complication of Congenital hypothyroidism

3. INTRODUCTION Hypothyroidism refers to an underactive thyroid gland. Congenital hypothyroidism (CH) is a common endocrine disease in newborns and affects approximately 1 in 2000 to 4000 live births. Congenital hypothyroidism occurs when a newborn infant is born without the ability to make normal amounts of thyroid hormone due to metabolic disorders.

4. The thyroid hormone plays an essential role in energy metabolism, growth and neurodevelopment. Untreated congenital hypothyroidism can lead to intelectual disabilities and growth failure.

5. PREVALENCE Congenital hypothyroidism (CH) is a worldwide disease, which affects approximately 1:3,000-1:4,000 newborns and it is one of the most common preventable causes of mental retardation. (Skordis.N.et all.2005). Differences of CH-incidence are more likely due to iodine deficiency thyroid disorders or to the type of screening method than to ethnic affiliation. CH is caused by an absent or defective thyroid gland classified into agenesis (22-42%), ectopy (35-42%) and gland in place defects (24-36%). Although a few cases of thyroid dysgenesis have been described as a result of gene mutations, there is no common link to explain the etiological background of the majority of cases. (Klett.M.1997).

6. ETIOLOGY Congenital hypothyroidism occurs in about 1/1700 to 1/3500 live birth.Most congenital cases are sporadic,but about 10 to 20% are inherited.Causes include. Dysgenesis of the gland(50-60% of cases) Dyshormonogenesis (abnormal thyroid hormone production,30 to 40% of cases)

7. Continue… Dysgenesis may involve ectopy(2-cases),absence(agenesis),or underdevelopment(hypoplasia)of the thyroid gland.The cause is usually unknown,but an estimated 2 to 5% of cases are inherited,often in genes associated with thyroid gland formation(TSHR)or transcription factor(PAX8, NKX2-1) Dyshormonogenesis has multiple types,which can result from a defect in any of the steps of thyroid hormone biosynthesis.

8. CAUSE HYPOTHYRODISM Absence of thyroid gland Ectopic thyroid(not situated at the normal size) Dyshormonogenesis Thyroid hypoplasia(only part of thyroid gland is present) or small in size

9. Early signs of congenital hypothyroidism : Prolong jaundice (yellow skin or eyes) Sleeping longer or more often than usual Problem /difficulty in feeding Constipation Macroglossia Distended abdomen with umbilical hernia A large soft spot (fontanel) on the head. Weak ("floppy") muscle tone Poor or slow growth. Myxedematous facies Hypotonia

10. SCREENING FOR CONGENITAL HYPOTHYROIDISM AT HOSPITAL WITH T4/TSH SCREENING FACILITIES

11. Hormonal therapy is available for congenital hypothyroidism. Every effort needs to be taken to confirm the diagnosis as soon as possible and to initiate treatment. Wth the cord blood screening programe most neonates with severe congenital hypothyroidism can be treated within the first 14 days of life. The goal of therapy is to restore euthyroid state by maintaining a serum FT4 level at the upper half of the normal age-related reference range. Ideally serum TSH level should be between 0.5-2.0mlU/L after the first month of life. MANAGEMENT OF HYPOTHYROIDISM

12. Subsequent review is a4-6 weekly intervals during the first 6month and at 2-3 monthly interval during the 6-18th month period to maintain serum FT4 levels in the normal range for age. Treatment is monitored by measuring FT4,TSH,bone age,growh parameter and psychomotor development. Parent needs to be counseled that poor compliance in the infancy may cancel the benefits of screening. Subsequent review is a4-6 weekly intervals during the first 6month and at 2-3 monthly interval during the 6-18th month period to maintain serum FT4 levels in the normal range for age. Treatment is monitored by measuring FT4,TSH,bone age,growh parameter and psychomotor development. Parent needs to be counseled that poor compliance in the infancy may cancel the benefits of screening.

13. Age of patient Intervals for Thyroid Function Test After initiation of L-thyroxine 1-2 weeks (until normalization of results) 1-6 months 1-2 monthly 6 months - 3 years 3-4 monthly > 3 years until growth is complete 6-12 monthly Time interval for follow up and thyroid function test Should be more frequent if compliance is questionable or abnormal TFT value are obtained, and 4-6 weeks after any change in L- thyroixine dose/formulation

14. COMPLICATION Mental Disability Growth Delays Loss Of Hearing .

15. SUMMARY AND CONCLUSION Blood for TSH (Thyroid Stimulating Hormone) evaluation should be collected immediately after birth from the maternal side of the cord. From study it is noted that there is a rapid admixture of maternal blood and foetal blood in the placenta immediately after births. This means that the TSH from cord blood can be çontaminated by maternal TSH levels.

16. ROLE OF PUBLIC HEATLH NURSING History:Family history should be carefully 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, can occasionally provide the etiology of the infant’s problem. Physical exam. Physical exam may show signs of coarse facial features, macroglossia, large fontanelles, umbilical hernia, developmental delay, pallor, myxedema, and goiter.

17. References Healthy Chirldren.Org. “ Congenital Hypothyroidism in Infants”. Retrieved from: https://www.healthychildren.org/English/health-issues/conditions/Glands- Growth-Disorders/Pages/Congenital-- Hypothyroidism- Infants.aspx#:~:text=Hypothyroidism%20refers%20to%20an%20underactive, permanent%20and%20treatment%20is%20lifelong . Skordis.N., Toumba.M., Savva.S.C., Erakleous.E., Topouzi.M., Vogazianos.M. & Argyriou.M., (2005). “ High Prevalence of Congenital Hypothyroidism in the Greek Cypriot Population: Results of the Neonatal Screening Program 1990-2000” Retrieved from: https://www.degruyter.com/document/doi/10.1515/JPEM.2005.18.5.453/html Klett.M. (1997)., “ Epidemiology of congenital hypothyroidism”. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/9439909/

18. NATIONAL SCREENING PROGRAMME CONGENITAL HYPOTHYROIDISM, Ministry Of Health Malaysia 2018.