Combined Pituitary Hormone Deficiency Due To Novel Compound Heterozygous POU1F1 Variant in Two Siblings

Koprulu O and Gurkan H

Published on: 2024-09-18

Abstract

Short stature is one of the most common presentations in the pediatric endocrinology clinics. Two siblings were presented with short stature to our outpatient clinic. Hormonal evaluation revealed combined pituitary hormone deficiency (CPHD) with growth hormone deficiency (GHD) and central hypothyroidism. Regarding to the diagnosis of CPHD, genetic analysis performed and Whole exome sequencing (WES) revealed a compound heterozygous in POU1F1. Based on our literature review, this is the first report of the c.438A>T mutation, to the best of our knowledge. The patients showed catch-up growth after hormone replacement. Early diagnosis and intervention is important in pituitary hormone deficiencies.