Klinefelter's syndrome with seizure, pseudohypoparathyroidism type Ib and multiple endocrine dysfunctions.
Klinefelter's syndrome is rarely associated with hypocalcemia, especially pseudohypoparathyroidism (PHP) type Ib. We describe a case of Klinefelter's syndrome associated with seizure, PHP type Ib and multiple endocrine dysfunctions. A 19-year-old Taiwanese male was admitted due to seizures with loss of consciousness. He had been diagnosed with Klinefelter's syndrome with seizure disorder and hypocalcemia 3 months previously. Physical examination revealed eunuchoidism but no osteodystrophy, while laboratory data revealed severe hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone. Chromosomal study showed 47,XXY. Osteoporosis was found on chest and abdominal radiography. Dense calcification in the cerebrum and cerebellum was shown on brain computed tomography and magnetic resonance imaging. Elevation of the patient's serum calcium level was noted after vitamin D and calcium carbonate supplements were given. Klinefelter's syndrome is rarely associated with PHP type Ib; our patient's hypocalcemia improved after long-term aggressive treatment.
Yang
Chwen-Yi
CY
Division of Endocrinology and Metabolism, Department of Medicine, Chi-Mei Hospital, 901, Chung-Hwa Road, Yung-Kang City, Tainan 710, Taiwan, ROC. fu9109@ms42.hinet.net
Lin
Kao-Chang
KC
Chou
Chien-Wen
CW
Lin
Ming-Bin
MB
Chen
Su-Yu
SY
Cheng
Hon-Mei
HM
D000328:Adult; D002118:Calcium / Q000008:administration & dosage / Q000097:blood; D004700:Endocrine System Diseases / Q000209:etiology*; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000188:drug therapy; D008297:Male; D011547:Pseudohypoparathyroidism / Q000209:etiology*; D012640:Seizures / Q000209:etiology*; D013739:Testosterone / Q000627:therapeutic use; D014807:Vitamin D / Q000008:administration & dosage
D014807:Vitamin D; D013739:Testosterone; D002118:Calcium