Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency
W. Futterweit, R. Ritch, C. Teekhasaenee and E. S. Nelson
A patient with Prader-Willi syndrome and unilateral congenital ectropion
uveae with glaucoma was found to have factor XI deficiency and reduced
levels of serum luteinizing hormone, follicle-stimulating hormone, and
testosterone. Administration of gonadorelin (LH-RH) increased serum levels
of luteinizing hormone and follicle-stimulating hormone, while clomiphene
citrate had no effect, suggesting a primary hypothalamic defect. Patients
with congenital ectropion uveae should be followed up for the development
of both glaucoma and neural crest disorders.
