Searchable abstracts of presentations at key conferences in endocrinology

ea0012p32 | Clinical case reports/Governance | SFE2006

Problems in the diagnosis of disorders of sex development

Honour JW , Stanhope R , Hughes IA , Phillips I

A girl with family history of a disorder of sex development (DSD) was referred for biochemical investigations and genetic analysis. Parents were consanguineous and a sibling was thought to have partial androgen insensitivity although androgen receptor gene analysis does not fully explain the phenotype. A maternal uncle with perineal hypospadias and a maternal aunt also had the mutation. One sister was normal, one brother had dextrocardia and another brother had mental retardat...