Bioinformatics evaluation of 51 genes involved in pituitary organogenesis in patients with Congenital Hypopituitarism

• Grant number: 23/16038-9
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: February 01, 2024
• End date: January 31, 2025
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Luciani Renata Silveira de Carvalho
• Grantee: Beatriz Almeida Ribeiro
• Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Congenital hypopituitarism (CH) leads to a hormonal deficiency that causes a clinical picture marked mainly by short stature and delayed growth velocity. Around 85% of patients with CH remain with the genetic etiology of this hormonal deficiency unknown. In the Endocrinology department at HCFMUSP, only 12% of patients with Congenital Hypopituitarism have a molecular diagnosis. The development of new molecular biology techniques and advances in new technologies for sequencing the human genome have enabled the discovery of new genes that cause pituitary developmental disorders. An ongoing project at the University of Southern California has identified, through a bioinformatics approach and mouse phenotyping data, 51 genes involved in pituitary organogenesis, including cilia formation, amino acid metabolism and epigenetic regulation. These genes associated with pituitary malformations significantly expand the list of candidate genes for WES screening in human cases of Congenital Hypopituitarism. In view of this, this study aims to evaluate the exomes of patients with CH, followed up at the HCFMUSP outpatient clinic, in search of allelic variants responsible for this phenotype.