SOX2-asscociated syndromic microphthalmia type 3

We present the case of a 43-year-old male patient with septo-optic dysplasia, anophthalmia, intellectual disability, and speech and language impairments. He also has pronounced testosterone deficiency due to isolated hypogonadotropic hypogonadism, with preserved corticotropic and somatotropic axis function. In infancy, orchidopexy and funiculolysis were performed. Additional clinical findings include a cleft lip and palate, spastic tetraparesis, contractures predominantly of the lower limbs, emerging pain symptoms, and kyphoscoliosis. Whole Genome Sequencing revealed a pathogenic variant (NM_003106.4:c.59dup) in the SOX2 gene, confirming the molecular diagnosis of SOX2-associated syndromic microphthalmia type 3. Additionally, a known pathogenic variant (NM_007194.4:c.1100del), in the CHEK2 gene was identified as an incidental finding.