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Article

Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.

The Journal of clinical endocrinology and metabolism - 1 Apr 2013

Tatsi Christina, Sertedaki Amalia, Voutetakis Antonis, Valavani Eleni, Magiakou Maria-Alexandra, Kanaka-Gantenbein Christina, Chrousos George P, Dacou-Voutetakis Catherine

Abstract excerpt

CONTEXT: Holoprosencephaly (HPE) is a developmental defect characterized by wide phenotypic variability, ranging from minor midline malformations (eg, single central incisor) to severe deformities. In 10-15% of HPE patients, mutations in specific genes have been identified (eg, SHH, TGIF, SIX3). Pituitary stalk interruption syndrome (PSIS) constitutes a distinct abnormality of unknown pathogenesis, whereas...

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Identifiers

PMID: 23476075
DOI: 10.1210/jc.2012-3982

Genes

SHH
SIX3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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