Central congenital hypothyroidism caused by TSHB gene mutation: a case report.

J Pediatr Endocrinol MetabMay 15, 2026 (epub)
Case ReportEndocrinologyPediatrics

Mariana Andrade, Ana Lemos, Catarina Mendonça et al.

✦ AI-curated · Sources linked

Case in brief

A 44-day-old infant presented with cyanosis and hypotonia, alongside macroglossia, jaundice, and a holosystolic murmur. Despite a negative neonatal screening for congenital hypothyroidism, thyroid function tests indicated undetectable TSH and low free T3 and T4 levels. Whole exome sequencing identified a pathogenic variant in the TSHB gene. Levothyroxine treatment led to rapid normalization of thyroid hormone levels and significant clinical improvement.

Diagnostic / clinical pearl

Clinicians should be aware that central congenital hypothyroidism can present with normal neonatal screening results, necessitating clinical vigilance for symptoms.

Why it matters

This case highlights the potential for missed diagnoses in congenital hypothyroidism and the critical need for timely hormone replacement therapy to prevent complications.

Source

PubMed · PMID 42131990

Published in J Pediatr Endocrinol Metab. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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