46,XX gonadal dysgenesis with epibulbar dermoid.
Pure gonadal dysgenesis with 46,XX genotype is a rare abnormality with unknown etiology. Although sensorineural deafness has been described with 46,XX gonadal dysgenesis, the majority of reported cases of 46,XX gonadal dysgenesis have no associated physical abnormalities. We report a patient with 46,XX gonadal dysgenesis associated with epibulbar dermoids and preauricular skin tags, the classic ocular and skin manifestations of Goldenhar sequence (oculoauricular vertebral dysplasia). We propose that our patient may represent a new and previously unreported syndrome.
Quayle
S A
SA
Department of Pediatrics, University of Vermont College of Medicine, Burlington.
Copeland
K C
KC
D000293:Adolescent; D003884:Dermoid Cyst / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D005128:Eye Diseases / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006059:Gonadal Dysgenesis / Q000097:blood / Q000503:physiopathology; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood; D014960:X Chromosome
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013972:Thyrotropin; D013974:Thyroxine