Pituitary stalk interruption syndrome

Also known as: PSIS

Thin or interrupted pituitary stalk with ectopic posterior pituitary.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pituitary disorders
Sex & age distribution: Male: affected, more common; Female: affected; Children: yes, childhood
Gene(s) involved: CDON, GPR161, HESX1, LHX4, OTX2, PROKR2, SOX3

Etiology & mechanism

Developmental pituitary defect.

Gene(s) involved (7)

CDONGPR161HESX1LHX4OTX2PROKR2SOX3

Symptoms & signs (5)

delayed pubertygrowth hormone deficiencyhypoglycemiamidline defectsshort stature

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