Congenital hypothyroidism. Report of a clínical case

Abstract

In Mexico, NOM-034-SSA2.2013, “for the prevention and control of birth defects,” establishes neonatal screening as a method for detecting inborn errors of metabolism in newborns. This test, also known as the heel prick test, is an essential tool performed between the 2nd and 5th day of life for the early detection of metabolic, congenital, and hearing disorders. Its timely application allows for the initiation of appropriate treatment to prevent severe or irreversible damage to the child’s development. Congenital hypothyroidism (CH) is the deficiency of thyroid hormones present at birth. It is one of the leading preventable causes of intellectual disability. Its incidence is approximately 1 in every 1,500–2,000 newborns. The causes may be anatomical, such as abnormal development or absence of the thyroid gland, or may have a hereditary component. We present the case of a 9-year 7-month-old male patient with a systemic diagnosis of CH detected through neonatal screening. His medical history included clinical symptoms such as weak crying, jaundice, umbilical hernia, as well as several medical comorbidities. The reason for his dental consultation was delayed tooth eruption. Clinical evaluation revealed oral signs associated with the endocrine disorder: macroglossia, mouth breathing, delayed dental eruption, malocclusion, enamel defects, and dental arch abnormalities. The treatment plan included preventive and restorative measures, along with interdisciplinary referrals. Timely medical diagnosis makes it possible to anticipate, plan, and establish individualized protocols through inter- and multidisciplinary treatment for comprehensive patient care.