Searchable abstracts of presentations at key conferences in endocrinology

ea0032p282 | Clinical case reports - Thyroid / Others | ECE2013

A case of confirmed Smith–Lemli–Opitz syndrome

Kun Imre Zoltan , Szanto Zsuzsanna , Ludke Ibolya , Duka Gabriela , Plaiasu Vasilica

Smith–Lemli–Opitz syndrome (SLOS) is a 46,XY disorder of sex development, included in the subgroup of disorders in androgene synthesis. The disease is caused by mutations of 7-dehydrocholesterol reductase (DHCR7) gene, conducting to deficient synthesis of the correspondent enzyme and of cholesterol, with important role in embryogenesis, adrenal and gonadal steroidogenesis. Clinical manifestations includ facial dysmorphism, syndactyly, ambiguous external genitalia and...