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      Primary hyperparathyroidism and Klinefelter's syndrome in a young man

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          Summary

          We 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.

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          Most cited references11

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          Klinefelter's syndrome.

          Fabio Lanfranco, Axel Kamischke, Michael Zitzmann … (2015)
          Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences. Testosterone replacement corrects symptoms of androgen deficiency but has no positive effect on infertility. However, nowadays patients with Klinefelter's syndrome, including the non-mosaic type, need no longer be considered irrevocably infertile, because intracytoplasmic sperm injection offers an opportunity for procreation even when there are no spermatozoa in the ejaculate. In a substantial number of azoospermic patients, spermatozoa can be extracted from testicular biopsy samples, and pregnancies and livebirths have been achieved. The frequency of sex chromosomal hyperploidy and autosomal aneuploidies is higher in spermatozoa from patients with Klinefelter's syndrome than in those from normal men. Thus, chromosomal errors might in some cases be transmitted to the offspring of men with this syndrome. The genetic implications of the fertilisation procedures, including pretransfer or prenatal genetic assessment, must be explained to patients and their partners.
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            Mortality in patients with Klinefelter syndrome in Britain: a cohort study.

            Minouk Schoemaker, Elaine Wright, … (2005)
            Klinefelter syndrome is characterized by hypogonadism and infertility, consequent on the presence of extra X chromosome(s). There is limited information about long-term mortality in this syndrome because there have been no large cohort studies. Our objective was to investigate mortality in men with Klinefelter syndrome. We obtained data about patients diagnosed with Klinefelter syndrome at almost all cytogenetics centers in Britain, as far back as records were available, and conducted a cohort study of their mortality, overall and by karyotype. We assessed 3518 patients diagnosed since 1959, followed to mid-2003. The outcome measure was standardized mortality ratio (SMR). A total of 461 deaths occurred. There was significantly raised mortality overall [SMR, 1.5; 95% confidence interval (CI), 1.4-1.7] and from most major causes of death including cardiovascular disease (SMR, 1.3; 95% CI, 1.1-1.5), nervous system disease (SMR, 2.8; 95% CI, 1.6-4.6), and respiratory disease (SMR, 2.3; 95% CI, 1.8-2.9). Mortality was particularly raised from diabetes (SMR, 5.8; 95% CI, 3.4-9.3), epilepsy (SMR, 7.2; 95% CI, 3.1-14.1), pulmonary embolism (SMR, 5.7; 95% CI, 2.5-11.3), peripheral vascular disease (SMR, 7.9; 95% CI, 2.9-17.2), vascular insufficiency of the intestine (SMR, 12.3; 95% CI, 4.0-28.8), renal disease (SMR, 5.0; 95% CI, 2.0-10.3), and femoral fracture (SMR, 39.4; 95% CI, 4.8-142.3). Mortality from ischemic heart disease was significantly decreased (SMR, 0.7; 95% CI, 0.5-0.9). Patients diagnosed with Klinefelter syndrome have raised mortality from several specific causes. This may reflect hormonal and genetic mechanisms.
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              Surgery or surveillance for mild asymptomatic primary hyperparathyroidism: a prospective, randomized clinical trial.

              Claudio Marcocci, Piero Berti, G Viccica … (2007)
              It is unclear whether patients with asymptomatic primary hyperparathyroidism (PHPT) do better with parathyroidectomy (PTx) as compared with conservative medical management. The aim of the study was to evaluate the beneficial effect of PTx vs. conservative management in patients with mild asymptomatic PHPT. We conducted a prospective, randomized study. The study took place at a referral center. We studied 50 patients who did not meet any guidelines for parathyroid surgery as recommended by the National Institutes of Health Consensus Development Conference on Asymptomatic PHPT. Patients were randomly assigned to PTx or no PTx and were evaluated at 6 months and at 1 yr. We compared changes (percentage of basal) of lumbar spine bone mineral density (BMD) between the two groups at 1 yr. The change in BMD at lumbar spine was greater after PTx (+4.16 +/- 1.13 for PTx vs. -1.12 +/- 0.71 for no PTx; P = 0.0002). The change in BMD at the total hip was also significantly greater in the PTx group (+2.61 +/- 0.71 for PTx vs. -1.88 +/- 0.60 for no PTx; P = 0.0001). There was no difference in BMD after 1 yr between both groups at the one-third radius site. In comparison with those who did not undergo surgery, the PTx subjects, after 1 yr, showed significant differences in four quality of life measures as determined by the 36-item short form health survey scale: bodily pain (P = 0.001), general health (P = 0.008), vitality (P = 0.003), and mental health (P = 0.017). In patients with mild asymptomatic PHPT, successful PTx is followed by an improvement in BMD and quality of life. Most patients followed without surgery did not show evidence of progression.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Endocrinol Diabetes Metab Case Rep
                Journal ID (iso-abbrev): Endocrinol Diabetes Metab Case Rep
                Journal ID (pmc): edm
                Journal ID (publisher-id): EDM Case Reports
                Title: Endocrinology, Diabetes & Metabolism Case Reports
                Publisher: Bioscientifica Ltd (Bristol )
                ISSN (Electronic): 2052-0573
                Publication date (Electronic): 1 April 2015
                Publication date (Print): 2015
                Volume: 2015
                Electronic Location Identifier: 150019
                Affiliations
                [1]Division of Endocrinology , Diabetes and Metabolism , Santa Croce and Carle, Cuneo, Italy
                [1 ]Endocrinology Service , Galeazzi Institute IRCCS , Milan, Italy
                [2 ]Genetics Unit , Casa Sollievo della Sofferenza, IRCCS , San Giovanni Rotondo, Italy
                [3 ]Genetics and Molecular Biology , Santa Croce and Carle, Cuneo, Italy
                Author notes
                Correspondence should be addressed to E Castellano Email: castellano.elena@ 123456libero.it
                Article
                Publisher ID: EDM150019
                DOI: 10.1530/EDM-15-0019
                PMC ID: 4390990
                SO-VID: 0980e4d8-0ffb-444e-85d5-c0f4d619cf8d
                Copyright © © 2015 The authors
                License:

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

                History
                Date received : 16 February 2015
                Date accepted : 24 March 2015
                Categories
                Subject: New Disease or Syndrome

                Data availability:

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