Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives

Salzano, Andrea; D’Assante, Roberta; Heaney, Liam M.; Monaco, Francesca Roversi; Rengo, Giuseppe; Valente, Pâmela Cristina Lopes Gurgel; Pasquali, Daniela; Bossone, Eduardo; Gianfrilli, Daniele; Lenzi, Andrea; Cittadini, Antonio; Marra, Alberto M.; Napoli, Raffaele

doi:10.1007/s12020-018-1584-6

Cited by 46 publications

(32 citation statements)

References 73 publications

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“…Although increased cardiovascular and metabolic risks had been reported in classical KS (Salzano et al, ), our patient showed no pathology in cardiovascular and metabolic assessment. Due to the rarity of iXq variant and absence of cardiovascular and metabolic findings in previous cases, making an assertion about cardiovascular and metabolic risks of 47,X,i(X)(q10),Y patients is rather difficult.…”

Section: Discussioncontrasting

confidence: 47%

A rare case in literature: Isochromosome Xq in Klinefelter syndrome

et al. 2019

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Background Klinefelter syndrome(KS), affecting 1 in 500–1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary hypogonadism. Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately 0.3% of all KS and associated with normal height and androgenisation compared to classical KS. Here, we present a case of isochromosome Xq variant of KS with similar clinical and cytogenetic findings with the few cases reported before. Materials and Methods A 25‐year‐old male patient referred to our clinic with complaint of infertility. He is the son of a consanguineous couple who are first cousins and there was no family history of reproductive difficulty. In physical examination synophrys, prominent ear and small testicles noted. The patient's spermiogram showed azoospermia and scrotal USG revealed testicular atrophy. Results Karyotype analysis using G‐banding resulted as 47,X,i(X)(q10),Y, and STR analysis showed no deletion in AZF and SRY loci of interest. Conclusion Although several isochromosome Xq variant of KS cases can be found in literature, it is our duty to emphasise the importance of karyotyping for patients with reproductive difficulty who may not have all features of classical Klinefelter syndrome.

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Section: Discussioncontrasting

confidence: 47%

A rare case in literature: Isochromosome Xq in Klinefelter syndrome

et al. 2019

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“…Some of them might be greatly underdiagnosed, like Kallmann syndrome, Klinefelter syndrome and rare forms of congenital adrenal hyperplasia. Patients with Klinefelter syndrome have a higher risk of cardiovascular disease and develop T2DM, MS and insulin resistance more often than the general population 38…”

Section: Discussionmentioning

confidence: 99%

<p>Can Low SHBG Serum Concentration Be A Good Early Marker Of Male Hypogonadism In Metabolic Syndrome?</p>

Jarecki

Herman²,

Pawliczak

et al. 2019

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IntroductionIn men suffering from metabolic syndrome, accompanying insulin resistance may result in a lowering of sex hormone–binding globulin (SHBG) plasma levels and cause changes in their androgenic status.AimThe objective of the research was to assess selected androgens and SHBG plasma levels in males meeting diagnostic criteria for MS compared to healthy males.Patients and methodsThe group consisted of 65 men aged between 40 and 70 years old fitting IDF metabolic syndrome criteria and 84 controls. Dehydroepiandrosterone (DHEA) and its sulphate (DHEA–S), total and free testosterone and SHBG serum levels were evaluated. Calculated free and bioavailable testosterone were estimated using an algorithm proposed by the International Society for the Study of the Aging Male.ResultsMen diagnosed with MS showed a statistically significant decrease in plasma levels of DHEA in comparison to healthy ones: 11.579 (8.39–15.56) vs 14.014 (9.611–17.125) ng/mL; p = 0.0350, SHBG: 47.46 (35.78–62.83) vs 71.965 (54.45–91.56) nM/L; p<0.0001 and total testosterone: 5.2 (3.8–6.5) vs 6.3 (5.4–8.25) ng/mL; p = 0.0001 (values presented as a median with Q1–Q3).ConclusionThe results suggest that SHBG is a good early marker for metabolic dysregulation in MS, considering its strength of association and significance is comparable to, or better than, those of MS criteria.

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“…Klinefelter syndrome (KS) is a well known genetic cause of primary hypogonadism, which arises from sex chromosomal aneuploidy, typically with a 47,XXY genotype, although mosaicisms are possible as well, and can give rise to male infertility in addition to the extragonadal phenotypic manifestations of the syndrome. Notably, patients with KS are found to have increased risks of cardiovascular disease, metabolic syndrome, insulin resistance, diabetes mellitus, and cancer, particularly male breast cancer, but potentially lung cancer and non-Hodgkin lymphoma as well (11)(12)(13). Finally, deletions involving the Y chromosome can severely impair fertility, with 10% of azoospermic men harboring Y chromosome microdeletions, making genetic testing for Y microdeletions a routine part of diagnostic evaluation in this population of infertile men (14).…”

Section: Genetic Associationsmentioning

confidence: 99%