Research Explained: Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study (2023)

Authors: Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey

Publication Date: December 14, 2023

Research Explained By: Gabrielle Rushing, PhD, Science Program Director

Link to Paper: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0292664

Research Explained Summary: 

The authors sequenced the DNA of individuals who had a rare disorder called Pituitary stalk interruption syndrome (PSIS), a condition that affects the pituitary gland, a crucial organ in the brain that regulates various hormones. They wanted to learn more about the potential genetic causes of PSIS. In individuals with PSIS, the pituitary stalk, a structure connecting the brain to the pituitary gland, is abnormally formed or absent. This disruption leads to hormonal deficiencies, including growth hormone (GH) deficiency, impacting growth, reproduction, and other bodily functions. Diagnosis often involves imaging studies, and management typically requires lifelong hormone replacement therapy to address the hormonal imbalances caused by the syndrome. 

The results of sequencing identified a single patient with Okur-Chung Neurodevelopmental Syndrome (OCNDS), harboring the most common CSNK2A1 missense variant, K198R. The child had the typical clinical phenotype of OCNDS including hypotonia, autism, and delay in the ability to walk. Major conclusions from this publication include the suggestion that obtaining a genetic diagnosis in cases of isolated PSIS will remain challenging and that PSIS is a disorder that should be considered when analyzing the full phenotypic spectrum of OCNDs in future studies.