Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep626 | Reproductive and Developmental Endocrinology | ECE2024

Is the deficiency in secondary sex characteristics a potential manifestation of SPENCD (Spondyloenchondrodysplasia)?

Yıldız İcli İrem , Onur İşler Alperen , Evşan Boyraz Nur , Cagdas Deniz , Kılıc Levent , Gurlek Alper

Background: Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia characterized by radiolucent spondylar and metaphyseal lesions, representing the persistence of chondroid tissue islands within the bone. Besides skeletal abnormalities and short stature, autoimmune disorders, including systemic lupus erythematosus, Sjögren’s syndrome, hemolytic anemia, thrombocytopenia, hypothyroidism, inflammatory myositis, Raynaud’s disease, and v...