Abstract

HIST1H1E Syndrome is a rare autosomal dominant disorder resulting from a heterozygous variation in the H1-4 gene located on chromosome 6p22.2. Mental retardation, recognizable facial features, skeletal abnormalities and overgrowth are the main clinical manifestations of this syndrome. A 17-year-old male presented to the pediatric endocrinology clinic due to short stature. He had a characteristic facial appearance with neurodevelopmental delay. Genetic analysis revealed a heterozygous pathogenic variation in the H1-4 gene located on chromosome 6p22.2 which confirmed his diagnosis of HIST1H1E syndrome. In our case, distinguished by the co-occurrence of short stature and obesity accompanying central hypothyroidism and growth hormone (GH) deficiency due to hipoplastic pituitary gland, which differs from the somatic overgrowth characterizing this syndrome.These is the second reported HIST1H1E syndrome case with hyposecretion of multiple pituitary hormones caused by hypoplasia in the pituitary gland.