Scheuermann’s Disease Inheritance Mechanism

Abstract

Objective. To analyse the mechanism of Sheuermann’s disease genetic determination in a representative samples of pedigrees and to identify its hereditary phenotypic signs. Material and Methods. Patients with Scheuermann’s disease (90 probands and 385 relatives of 1st–3rd relation degree) were examined using clinical-genetical, optical topographical, and radiological methods. Results. Scheuermann’s disease incidence among closest relatives of the probands was 0.143 in sisters (n = 21), 0.476 in brothers (n = 21), 0.250 in mothers (n = 84), and 0.743 in fathers (n = 35). These values significantly exceed the incidence in general population, what confirms a familial aggregation of Scheuermann’s disease. The incidence was higher in brothers and fathers of the probands than in their sisters and mothers, respectively. Both parents have been examined in 32 probands. Out of these families 5 had both parents unaffected, 22 families had affected fathers, 4 families had affected mothers, and 1 family had both parents affected. This also indicates that men are more predisposed to Scheuermann’s disease than women. Conclusion. Segregation analysis has shown that Scheuermann’s disease is a genetically dependent pathology inherited by autosomal dominant type and controlled by major gene with full pentrance in boys and 50 % penetrance in girls.