C121150Level 4
Pituitary Stalk Interruption Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A syndrome characterized by hypoplastic or aplastic anterior pituitary gland, a very thin or interrupted pituitary stalk, and ectopic or absent posterior pituitary gland, which may be associated with mutation(s) in the HESX1 or LHX4 genes.
**Synonyms:** - Hypoplastic Anterior Pituitary, Missing Stalk, and Ectopic Posterior Pituitary - PSIS
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