CONGENITAL HYPOTHYROIDISM WITH VARIANT IN LAS1L GENE PRESENTING WITH EARLY-ONSET OBESITY, DYSMORPHISM AND DEVELOPMENTAL DELAY: A CASE REPORT

DR.SUENERA . P.V,DR. NAVINUMAPATHY,DR.SYED MOHAMMED H,DR.PRADEEP S,DR. AKILAN. R

We report the case of a 9-month-old male infant diagnosed with congenital hypothyroidism who presented with significant developmental delay, early-onset obesity, and dysmorphic features. Whole exome sequencing revealed a hemizygous variant of uncertain significance (VUS) in the LAS1L gene associated with Wilson-Turner syndrome. This case highlights the need for integrated genetic, clinical, and developmental evaluation in infants with atypical hypothyroid phenotypes.