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Pituitary stalk interruption with multiple pituitary hormone deficiencies associated with a roundabout guidance receptor 1 gene mutation

Year: 2025

Type: article

Abstract: Pituitary stalk interruption syndrome (PSIS) is a rare condition characterized by multiple pituitary hormone deficiencies and a triad of distinctive features on imaging. We report a case of a 2.3-year-old male child who presented with hyponatremic seizures and was subsequently diagnosed with PSIS, identified to have a heterozygous mutation in the roundabout guidance receptor 1 (ROBO1) gene through clinical exome sequencing. This report emphasizes the importance of imaging in cases of hyponatremic seizures and represents the second documented case from India of classical PSIS associated with a novel ROBO1 gene mutation.

Source: Journal of Pediatric Endocrinology and Diabetes

DOI: 10.25259/jped_41_2024

Authors: Shamkiran, Tejasvi Sheshadri, M. U. Anil

Institutions: Sparsh Hospital, Rainbow Children's Hospital

Language: English

Topic: Pituitary Gland Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4408418471