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Article

Rare case of central congenital hypothyroidism due to a TSHβ mutation presenting with macro-orchidism.

BMJ case reports - 14 Nov 2023

Karguppikar Madhura Bharat, Schoenmakers Nadia, Khadilkar Vaman, Khadilkar Anuradha

Abstract excerpt

A male infant was brought to our paediatric endocrine unit with typical clinical features of congenital hypothyroidism (CH) and striking macro-orchidism. On evaluation, free T3, free T4 and thyroid stimulating hormone (TSH) were found to be low, suggestive of congenital CH. Cortisol was within reference range and prolactin was mildly elevated. No suspicious lesions were encountered on neurosonography. On...

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Identifiers

PMID: 37963664
DOI: 10.1136/bcr-2022-252796
PMCID: PMC10649689

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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