Primary hyperparathyroidism and Klinefelter's syndrome in a young man

Abstract

SummaryWe report the association of primary hyperparathyroidism (PHPT) and Klinefelter's syndrome (KS) in a 22-year-old male complaining of worsening fatigue. PHPT was asymptomatic at the diagnosis, but the patient had worsening hypercalcemia and osteoporosis, and developed acute renal colic. He then underwent parathyroidectomy with resection of a single adenoma and normalization of calcium and parathyroid hormone levels. Clinical and therapeutic implications of this rare association are discussed.Learning points The coexistence of KS and PHPT is very uncommon.Patients with mild PHPT often have nonspecific symptoms that may be confused and superimposed with those of hypogonadism.KS patients, especially when young and already osteoporotic at diagnosis, should be screened for other causes of secondary osteoporosis, in particular PHPT.

Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism

“…Only 2 cases of the coexistence of KS and PHPT have been reported. 9 , 12 Both cases had typical clinical and biochemical findings of KS. None of them were mosaic KS.…”

“…The presence of PHPT and KS have not been reported in the same patient very often, 9 and its association with KS mosaicism is even rarer. We report an unusual case of a young Hispanic male with a mosaic KS and PHPT.…”