Thyroid Dysgenesis Causing Congenital Hypothyroidism: A Case Report.

Abstract

Neonatal hypothyroidism, characterized by insufficient thyroid hormone levels in the neonatal period, is a critical endocrine disorder with potential for severe neurodevelopmental sequelae. Neonatal hypothyroidism is generally diagnosed late. An early diagnosis and prompt hormone replacement therapy is essential in cases of neonatal hypothyroidism to prevent irreversible mental retardation. We present the case of a 1-month-old male infant diagnosed with congenital hypothyroidism who presented with lethargy, cool and mottled skin, and a hoarse cry. A presumptive diagnosis of neonatal hypothyroidism was made. Knee X-Ray was done which showed absent epiphysis suggestive of delayed bone age. Thyroid function test was done which confirmed hypothyroidism. Hormone replacement therapy was promptly initiated and parents were counselled about importance of continued hormone replacement therapy and regular follow up. This case emphasizes the importance of early detection and prompt management to prevent irreversible cognitive impairments. This case underscores the significance of nationwide neonatal screening programs and individualized hormone replacement therapy.