Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Clomiphene / therapeutic use
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Factor XI Deficiency / complications*
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Follicle Stimulating Hormone / blood
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Glaucoma / complications*
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Gonadotropin-Releasing Hormone
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Humans
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Iris / abnormalities*
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Luteinizing Hormone / blood
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Male
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Prader-Willi Syndrome / blood
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Prader-Willi Syndrome / complications*
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Testosterone / analogs & derivatives
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Testosterone / blood
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Testosterone / therapeutic use
Substances
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Clomiphene
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Gonadotropin-Releasing Hormone
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Testosterone
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testosterone enanthate
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Luteinizing Hormone
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Follicle Stimulating Hormone