panhypopituitarism X-linked

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panhypopituitarism X-linked

An extremely rare X-llinked condition (OMIM:312000) characterised by panhypopituitarism, absent infundibulum, anterior pituitary hypoplasia and ectopic posterior pituitary. 

Molecular pathology
Caused by defects of SOX3, which encodes a transcription factor that regulates embryonic development and determines cell fate.