Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency.
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.
D000293:Adolescent; D002996:Clomiphene / Q000627:therapeutic use; D005173:Factor XI Deficiency / Q000150:complications*; D005640:Follicle Stimulating Hormone / Q000097:blood; D005901:Glaucoma / Q000150:complications*; D007987:Gonadotropin-Releasing Hormone; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D011218:Prader-Willi Syndrome / Q000097:blood / Q000150:complications*; D013739:Testosterone / Q000031:analogs & derivatives / Q000097:blood / Q000627:therapeutic use
D002996:Clomiphene; D007987:Gonadotropin-Releasing Hormone; D013739:Testosterone; C004648:testosterone enanthate; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone