Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus
Author:
Misgar Raiz Ahmad1ORCID, Chhabra Ankit1ORCID, Qadir Ajaz1ORCID, Arora Sidharth1ORCID, Wani Arshad Iqbal1ORCID, Bashir Mir Iftikhar1ORCID, Masoodi Shariq Rashid1ORCID
Affiliation:
1. Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences , Srinagar , Kashmir , India
Abstract
Abstract
Objectives
The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95 % of cases. The roundabout receptor-1 gene (ROBO1) plays critical roles in axonal guidance and cell migration. Recently, mutations in the ROBO1 gene have been reported patients with PSIS.
Case presentation
We report a 2.9-year-old boy with PSIS who presented with combined pituitary hormone deficiency, central diabetes insipidus, and the classical triad of MRI findings. Through clinical exome sequencing using next-generation sequencing techniques, a previously unidentified novel heterozygous frame shift mutation in the ROBO1 gene was identified. This is the first report of ROBO1 mutation associated with posterior pituitary dysfunction.
Conclusions
We conclude and emphasize that ROBO1 should be investigated in patients with PSIS. Our case is unique in the published literature in that we are first time reporting posterior pituitary dysfunction as manifestation of ROBO1 mutation. The full clinical spectrum of the mutations may not be fully known.
Publisher
Walter de Gruyter GmbH
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