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X-linked panhypopituitarism

X-linked panhypopituitarism

OMIM number: 312000

Comments closing date: 15/02/2021

X-linked panhypopituitarism is due to duplication
of the SOX3 gene which is present on the X
chromosome. It affects males and effects can
include multiple pituitary hormone deficiencies or
isolated growth hormone deficiency, micropenis
and/or undescended testes, structural pituitary
and/or other midline cranial abnormalities.
Variable degrees of cognitive impairment have
been reported ranging from normal intelligence,
through mild to moderate, to severe intellectual
disability. The duplication may be a risk factor for
neural tube defects. Female carriers are usually
phenotypically normal. There are no suitable
treatments.

Review date: 18 January 2023