ESPE2024 Poster Category 1 Pituitary, Neuroendocrinology and Puberty 1 (9 abstracts)
Phenotypic characteristic of a large cohort of pediatrics Argentine patients with PSIS. High Prevalence of Mutations in ROBO1 gene
María Isabel Di Palma 1 , Paula Plomer 1 , Roxana Marino 1 , Natalia Perez Garrido 1 , Alicia Belgorosky 1 , Pablo Ramirez 1 , Juan Manuel Lazatti 1 , María Inés Perez Millán 2 , Catalina Perticarari 2 , Julián Martinez Mayer 2 & Marta Ciaccio 1
1Servicio de Endocrinología, Hospital de Pediatría Prof. Dr. J.P. Garrahan, Ciudad Autónoma de Buenos Aires, Argentina. 2Instituto de Biociencias, Biotecnología y BiologíaTraslacional (iB3), Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina
Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder characterized by absent, thin, or interrupted pituitary stalk, absent or ectopic neurohypophysis, and hypoplasia or aplasia of the adenohypophysis. It often accompanies midline abnormalities and diverse endocrine dysfunction, with its etiology largely unknown. Recent reports have linked mutations in the ROBO1 gene to PSIS.
Aim: To describe the phenotypic characteristic of a large cohort of patients with PSIS followed at a single tertiary center and compare them to patients in whom mutations in the ROBO1 gene were identified
Material and Methods: We retrospectively reviewed the clinical records of fifty-five pediatric patients with PSIS followed at our institution from 1992 to 2023. Data of clinical, biochemical, and magnetic resonance imaging (MRI) findings were assessed. Target panel genetic screening using single-molecule molecular inversion probes sequencing and Whole exome sequencing (WES) of the patients was performed
Results: The cohort comprised 55 PSIS cases, including one familial case (65.5% males), with a median diagnosis age of 2.42 years. Predominant manifestations included short stature (69%), hypoglycemia (32.7%), seizures, jaundice (20%), and various other clinical signs like micropenis, cryptorchidism, ocular abnormalities, intellectual disability, hearing loss, and mild facial dysmorphism. MRI findings revealed ectopic in 44 patients, absent in 9, and small neurohypophysis in 1; absent, thin, or interrupted pituitary stalk in 31, 7, 7 patients respectively; and adenohypophysis hypoplasia in 52 patients, and absent in 2. Multiple pituitary insufficiency was prevalent (47 cases), with 8 cases of isolated growth hormone deficiency. Hormonal deficiencies included GH (94.5%), TSH (82%), ACTH (53%), and gonadotropins (24.5%), while only three patients had diabetes insipidus. A pathogenic variant was found in 6 patients. Four of them in ROBO1 gene, (3 novel variants, 1 familial case, none syndromic), 1 in LHX4 gene and 1 in LAMB2 gene. No significant differences were noted in clinical manifestations (age at presentation), pituitary involvement, or radiological findings (others than PSIS) between ROBO1 variant-positive and -negative patients.
Conclusions: We characterized clinical, biochemical, and radiological aspects in a sizable PSIS cohort and identified three novel ROBO1 mutations. Our findings emphasize the importance of examining ROBO1 variants in PSIS patients, particularly those without syndromic hypopituitarism and variable endocrine dysfunction
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