Klinefelter Syndrome is the most frequent cause of hypergonadotropic hypogonadism in men.
A flat response at luteinizing hormone releasing hormone stimulation test could be the first sign of hypothalamic tumor in these patients. We report the case of a patient diagnosed by neonatal screening with Klinefelter Syndrome, 47 XXY, that at 17 years follow-up presents analytical modification of the response to luteinizing hormone releasing hormone stimulation test with suppressed luteinizing hormone and follicle-stimulating hormone values; lately he presents with headache and loss of left eye vision. A magnetic resonance imaging of the brain showed a mixed germ cell hypothalamus tumor, requiring surgery, chemotherapy and radiotherapy with optimal response.
Written by:
Beisti Ortego A, De Arriba Muñoz A, Ferrer Lozano M, Martínez de Zabarte Fernández JM, Calvo Escribano C, Labarta Aizpún JI. Are you the author?
Hospital Universitario Miguel Servet, Zaragoza, España.
Reference: Arch Argent Pediatr. 2015 Jan 1;113(1):e6-9.
doi: 10.1590/S0325-00752015000100011
PubMed Abstract
PMID: 25622177
Article in Spanish.