Congenital hypothyroidism in Bogotá, Colombia: a current description (2015-2021).

OBJECTIVES: Congenital hypothyroidism (CH) is a decrease in thyroid hormone function in newborns, being one of the leading causes of neurological deficits and long-term metabolic complications. This study aims to determine the prevalence and characteristics of CH cases in Bogotá, Colombia, between 2015 and 2021, as notified through the mandatory report to the Public Health Surveillance System (PHSS). METHODS: A retrospective cross-sectional study was conducted. All live births (LB) with a weight ≥500 g, diagnosed with CH with or without goiter (ICD-10 codes E030 and E031, respectively) in Bogotá during 2015-2021 were analyzed. RESULTS: For a total of 201 cases, the prevalence rate was 3.29 cases per 10,000 LB. 92.54 % were classified as isolated cases of CH, 4.48 % syndromic, and 2.98 % polymalformated. A total of 16.92 % was small for gestational age. The mean gestational age was 37.38 weeks (SD 2.76), 26.87 % were preterm births. Among the mothers, 8.96 % suffered from pregnancy-related or chronic diseases, the most common being hypertensive disorders of pregnancy and pre-existant hypothyroidism (without clarity concerning etiology). A total of 66.67 % of cases did not receive treatment after diagnosis. Treatment was established by an average age of 27 days after birth (SD 36.02) and 17 days after case notification to the PHSS (SD 36.13). CONCLUSIONS: Observed prevalence is similar to the rate reported by health authorities in Colombia but inferior to reports from high-income countries, highlighting the importance of improvements in the Colombian LB's screening program. Time to diagnosis and treatment was observed to be prolonged, suggesting that new pathways are required for timely CH treatment.

Submandibular Ectopic Parathyroid Adenoma: A Case Report.

Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by hypercalcemia and elevated or abnormally normal parathyroid hormone (PTH) levels, due to excessive secretion of PTH by 1 or more parathyroid glands. In this report, we discuss the diagnostic and therapeutic challenges posed by ectopic parathyroid adenomas, a rare but atypical presentation of PHPT. We present the case of a 36-year-old female with PHPT due to an ectopic parathyroid adenoma located in the submandibular region. The patient presented with bone pain and was initially evaluated with routine imaging studies, which were negative. [18F] F-choline positron emission tomography (PET)/Computed tomography revealed the ectopic adenoma, leading to successful surgical management. Ectopic parathyroid adenomas are rare but can occur in various locations, and functional imaging modalities such as choline PET can aid in their detection. Surgical resection remains the definitive treatment for parathyroid adenomas, with intraoperative PTH monitoring guiding the extent of resection. Proper evaluation and management of PHPT is essential to avoid significant morbidity. Our case adds to the growing body of literature on the importance of considering ectopic locations of parathyroid adenomas in patients with PHPT.