Julian Martinez-Mayer, Sebastian Vishnopolska, Catalina Perticarari, Lucia Iglesias Garcia, Martina Hackbartt, Marcela Martinez, Jonathan Zaiat, Andrea Jacome-Alvarado, Debora Braslavsky, Ana Keselman, Ignacio Bergadá, Roxana Marino, Pablo Ramírez, Natalia Pérez Garrido, Marta Ciaccio, Maria Isabel Di Palma, Alicia Belgorosky, Maria Veronica Forclaz, Gabriela Benzrihen, Silvia D'Amato, Maria Lujan Cirigliano, Mirta Miras, Alejandra Paez Nuñez, Laura Castro, Maria Susana Mallea-Gil, Carolina Ballarino, Laura Latorre-Villacorta, Ana Clara Casiello, Claudia Hernandez, Veronica Figueroa, Guillermo Alonso, Analia Morin, Zelmira Guntsche, Hane Lee, Eugene Lee, Yongjun Song, Marcelo Adrian Marti, Maria Ines Perez-Millan
CONTEXT: The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital Hypopituitarism (CH) is the most commonly reported pediatric endocrine dysfunction with an incidence of 1:4000, yet low rates of genetic diagnosis have been reported. OBJECTIVE: We aimed to unveil the genetic etiology of CH in a large cohort of patients from Argentina. METHODS: We performed whole exome sequencing of 137 unrelated cases of CH, the largest cohort examined with this method to date...
May 8, 2024: Journal of Clinical Endocrinology and Metabolism