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

BMJ Case Rep. 2023 Nov 14;16(11):e252796. doi: 10.1136/bcr-2022-252796.


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 commencing treatment with thyroxine, clinical features of hypothyroidism showed dramatic improvement with regression of testicular enlargement. Genetic analysis revealed deletion of the TSHβ gene.Our case highlights a rare presentation of central CH with macro-orchidism in a genetically proven deletion of TSHβ gene. Macro-orchidism has been widely reported in IGSF-1 mutations leading to central CH; however, central CH and macro-orchidism have not been reported in association with TSHβ deletions.

Keywords: endocrine system; paediatrics (drugs and medicines); thyroid disease.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Congenital Hypothyroidism* / diagnosis
  • Congenital Hypothyroidism* / drug therapy
  • Congenital Hypothyroidism* / genetics
  • Humans
  • Infant
  • Male
  • Mutation
  • Thyroid Function Tests
  • Thyrotropin
  • Thyroxine / therapeutic use


  • Thyroxine
  • Thyrotropin