Skip to content
Research Article Open access CC BY 4.0

A Rare Case of Congenital Hypothyroidism

Sanket Bhadra, Urvashi Makwana, Ruchika Bhatt

Annual Research & Review in Biology · pp. 11–15 · Published 13 Apr 2023

10.9734/arrb/2023/v38i330574

Abstract

Congenital Hypothyroidism (CH) is a common preventable cause of mental retardation. The incidence of CH is 1 in 2500 to 1 in 3000 newborns. Most common causes are thyroid dysgenesis and dyshormonogenesis. Some disorder like maternal autoantibodies, maternal intake of anti thyroid medication, iodine deficiency or iodine excess can result in transient CH. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. In this case report, A 3 day old baby was admitted to SNCU with chief complain of yellowish discoloration upto abdomen and respiratory distress. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born.

Congenital hypothyroidism mental retardation thyroid dyshormonogenesis anti thyroid medication

References (10)

  1. 1 Update of Newborn Screening and Therapy for Congenital Hypothyroidism [DOI]
  2. 2 Suggested guidelines for the diagnosis and management of urea cycle disorders [DOI]
  3. 3 Current strategies for the management of neonatal urea cycle disorders [DOI]
  4. 4 Thyroxine Levels During Pregnancy in Healthy Women and Early Child Neurodevelopment [DOI]
  5. 5 Congenital Hypothyroidism [DOI]
  6. 6 How Should We Be Treating Children with Congenital Hypothyroidism? [DOI]
  7. 7 Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroidism [DOI]
  8. 8 Long-term survival of patients with argininosuccinate synthetase deficiency [DOI]
  9. 9 Proceedings of Consensus Conference for the Management of Patients With Urea Cycle Disorders. Current strategies for the management of neonatal urea cycle disorders
  10. 10 Journal of Pediatric Endocrinology and Metabolism [DOI]

Cited by 0

No indexed citations yet.

Article metrics

Real usage data collected on this platform.

38

Page views

0

PDF downloads

3

Outbound clicks

0

Citations

Views over time

Views by country

Approximate, from request IP at view time — not citizenship or institution. Countries with fewer than 5 views are grouped as "Other".

Traffic sources

Referring site, by host.

Views and downloads exclude known bots/crawlers. Citations combines this platform's own DOI-resolved index with each external source's own reported total — see Cited by above for individually listed citing works. Last refreshed 0 seconds ago.