hrp0098p2-193 | Growth and Syndromes | ESPE2024

Impact of Growth hormone therapy in a Child with SOX3 mutation: A Case Study

Karpel Julia , Kedar Tal , Levy-Mendelovich Sarina , Kenet Gili , Pinhas-Hamiel Orit

Background: We present the case of a 7.5-year-old male of Sephardic Jewish descent, born to non-consanguineous parents, diagnosed with Hemophilia B and a SOX3 gene deletion. The child exhibited endocrine disorders and developmental delay.Case Presentation: Born full-term following an uncomplicated pregnancy, he was diagnosed with Hemophilia B shortly after birth due to a significant hemorrhage post-routine dextrose check...