Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01189 (beta-endorphin)
 21,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of double male syndrome, a type of Klinefelter's syndrome with 48,XXYY chromosome, associated with acromegaloidism. Although the patient presented acromegalic appearance, he did not show hypersecretion of growth hormone (GH). GH provocation tests revealed a rather low GH responses or no responses. After testosterone therapy, the GH responses were normalized except to Insulin tolerance test (ITT). On the other hand, the plasma corticotropin (ACTH) and cortisol levels were decreased paradoxically after hypoglycemia. Testosterone therapy did not restore this ACTH response. It was speculated that these abnormal GH and ACTH responses to hypoglycemia might indicate another congenital anomaly.
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PMID:48,XXYY syndrome associated with acromegaloidism. 838 24

We, for the first time, report a boy with West syndrome associated with Klinefelter's syndrome. He developed episodes of repetitive tonic spasms at the age of 4 months. He had developmental delays and hypsarrhythmia on interictal electroencephalography recording. His karyotype turned out to be 47, XXY, while we failed to observe anomalies in his appearance. Adrenocorticotropic hormone therapy with antiepileptic drugs resulted in cessation of tonic spasms, and his developmental quotient was improved by the age of 1 year. Further studies are needed to determine the causal association between West syndrome and Klinefelter's syndrome.
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PMID:Klinefelter's syndrome complicated with West syndrome in a 4-month-old boy. 2147 Aug 6