Occurrence of 47,X,i(X)(q10),Y Klinefelter variant with hypogonadotropic hypogonadism

Sabbaghian, Marjan; Meybodi, Anahita Mohseni; Rahimian, Mouness; Gilani, Mohammad Ali Sadighi

doi:10.1016/j.fertnstert.2011.05.074

Cited by 10 publications

(6 citation statements)

References 27 publications

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“…Despite hypergonadotropic hypogonadism profile in hormonal analysis of patients reported before in literature, a case of hypogonadotropic hypogonadism with 47,X,i(X)(q10),Y karyotype reported by Sabbaghian, Meybodi, Rahimian, and Gilani (), must be mentioned in this matter.…”

Section: Discussionmentioning

confidence: 91%

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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: Discussionmentioning

confidence: 91%

“…Testis biopsy of previous cases showed only Sertoli cells without germ cell and hyperplasia of the Leydig cells (Demirhan et al, ; Höckner et al, ; Kondo et al, ; Sabbaghian et al, ).…”

Section: Discussionmentioning

confidence: 96%

A rare case in literature: Isochromosome Xq in Klinefelter syndrome

et al. 2019

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“…Unelevated serum gonadotropin levels in nonmosaic KS have been reported before. 13 It has been associated with different grades of mosaicism, 14 homogenous 47,XXY, 13 and trisomy Xq, 15 which indicate no obvious association between cytogenetic compositions and phenotypes. Typically, testosterone levels start to decline in late adolescence, and by early adulthood, overt hypergonadotropic hypogonadism ensues.…”

Section: Discussionmentioning

confidence: 99%

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

Lam

Rodríguez

Kato

et al. 2021

AACE Clinical Case Reports

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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“…So far, this is the first description of a patient with Klinefelter syndrome and craniopharyngioma, a dysembriogenic tumor of the sellar region. Recently, the co‐occurrence of hypogonadotropic hypogonadism with the 47,X,i(X)(q10),Y Klinefelter karyotype variant was described in a man (Sabbaghian et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

A Unique Patient Presenting With Concomitant Klinefelter Syndrome, Alport Syndrome, and Craniopharyngioma

Rotondi

Fallerini

Pirali

et al. 2012

Journal of Andrology

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A 31-year-old Caucasian male was referred for panhypopituitarism resulting from a surgically removed craniopharyngioma. The patient had been previously submitted to kidney transplantation for end-stage renal disease from X-linked Alport syndrome (ATS). Subsequent quantitative fluorescent polymerase chain reaction analysis indicated a 47,XXY karyotype consistent with Klinefelter syndrome (KS). The relevance of this unique case stems from several issues: 1) KS was an unexpected finding because of a previous diagnosis of hypogonadotropic hypogonadism resulting from craniopharyngioma; 2) the discovery of a de novo p.G406S substitution causing ATS; and 3) the multifactor origin of severe sexual dysfunction. This is the first description of the co-occurrence of KS, ATS, and craniopharyngioma.

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Occurrence of 47,X,i(X)(q10),Y Klinefelter variant with hypogonadotropic hypogonadism

Cited by 10 publications

References 27 publications

A rare case in literature: Isochromosome Xq in Klinefelter syndrome

A rare case in literature: Isochromosome Xq in Klinefelter syndrome

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

A Unique Patient Presenting With Concomitant Klinefelter Syndrome, Alport Syndrome, and Craniopharyngioma

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