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- central hypothyroidism
- congenital hypopituitarism
- pituitary hormone deficiencies
- abnormal thyroid function
Four patients of term gestation were under review following the identification of abnormal thyroid function test (TFT). Patient 1 presented at 2 months of age with prolonged jaundice and cholestatic liver disease. Patient 2 presented at 1 month of age with prolonged jaundice and transaminitis. Both babies were active, thriving and did not have any feeding problems. Patient 3 had respiratory distress with hypotonia at birth and was treated for presumed Group B Streptococcus sepsis during the first week of life. He had soft dysmorphic features of hypertelorism, low set ears and retrognathia, poor suck and oropharyngeal dysphagia. He developed prolonged jaundice with transaminitis at 1 month of age and was developmentally delayed. Patient 4 presented at 19 months of age with faltering growth. Table 1 shows their cord blood thyroid stimulating hormone (TSH) screening and thyroid function trends following their presentation.
What is the most likely diagnosis in these patients?
Primary hypothyroidism with delayed TSH rise.
Euthyroid sick syndrome.
Thyroid binding globulin deficiency.
How would you manage them during follow-up? (choosing more than one option is …
Contributors YLL and RV were involved in the conception and design of the work. YLL was the main author who wrote the manuscript. Both RV and FY provided the patients and reviewed the manuscript critically. All authors approved the final document and are accountable for all aspects of the work.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Next of kin obtained.