SAT226 A Case Of Congenital Hypopituitarasim Has The Genetic And Phenotypic Features Of Orofacial Syndrome

Abstract

Abstract Disclosure: A.A. Aljasser: None. A. Alhashem: None. Introduction: Reports on pediatric hypopituitarism are very scarce. The prevalence of hypopituitarism in children is not well documented; there are only pockets of case reports and case series in literature. Pediatric hypopituitarism has multifactorial etiologies and can occur in neonates, infants, children and adolescents. The incidence of congenital hypopituitarasim is 1in 4000-1in 10000. Majority of CH cases are sporadic. howfer small number of familial cases have been identified. A molecular basis has frequently been identified. Between 80-90% cases remain unsolved in terms of molecular genetics. It can be syndromic or isolated congenital hypopituitarism depend on stage of embryogenetic fault. Case: Her we describe a case of Syndromic type of congenital hypopituitarism. A term baby weigh;2.62 kg height; 49 cm and HC 32 cm found to be dysmorphic in form of bilateral cleft lip and palate and flat nose and hypertolirism. She was well until age 2-3 day where she became ill and hemodynamically ill needs ICU in the NICU. Her labs shows: from endocrine point of view: very low ACTH and very low Cortisol and low TSH and low Free T4 (table will be in the poster). After replacement therapy and stabilization, her MRI brain shows absent anterior Pituitary and ectopic neurohypophysis and absent pituitary stalk. Later investigations shows normal chromosomes and CGH array. After evaluation and investigation by our genetic colleges, there was an abnormality in the WES study. See results (table) Conclusion: her we present a positive correlation between the phenotypic and genetic results in our case shows an addition of similar cases reported before Presentation: Saturday, June 17, 2023