A Case of Hypogonadotropic Hypogonadism with an XY/XXY Sex Chromosome Mosaicism

Shirai, Masamitsu; Matsuda, Shinya; Mitsukawa, Shiro

doi:10.1620/tjem.114.131

Cited by 11 publications

(5 citation statements)

References 14 publications

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“…Until now, there have been rare reports of occurrence of the Klinefelter karyotype with HH (31)(32)(33). In the patients reported by Rodriguez de Ledesma et al (31) and Nistal et al (32), ultrastructural findings of testicular biopsies revealed testicular atrophy with hyalinization of seminiferous tubules and hyperplasia of Leydig cells, whereas Leydig cell clusters were present in the testicular interstitium in our case.…”

Section: Figuresupporting

confidence: 43%

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

Sabbaghian

Meybodi

Rahimian

et al. 2011

Fertility and Sterility

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Section: Figuresupporting

confidence: 43%

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

Sabbaghian

Meybodi

Rahimian

et al. 2011

Fertility and Sterility

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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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“…The first case report (Shirai et al 1974) describes a 74 year old man with XY-XXY mosaicism and low levels of circulating testoste¬ rone, FSH and LH. The second report (Rabinowitz et al 1975) (Carter et al 1977).…”

Section: Discussionmentioning

confidence: 99%

Gonadotropin responses to low dose pulsatile administration of GnRH in a case of anosmia with hypogonadotropic hypogonadism associated with gonadal dysgenesis 47 XXY

Hazard

Rozenberg

Perlemuter

et al. 1986

Acta Endocrinologica

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A 25 year old man presented hypogonadotropic hypogonadism with complete anosmia (Kallman's syndrome). His chromosomic type was 47 XXY (Klinefelter's syndrome). Clinical findings were: height 183 cm, weight 62 kg, increased length of lower limbs, P2\p=n-\A2pilosity and micropenis. Only a left testis was present (1.5\p=n-\1.5cm). Bone age was 15. Testicular biopsy showed that the signs were more related to the gonadotropic deficit than to the gonadal dysgenesis; tubular hyalinization was not observed. Plasma levels of testosterone and oestradiol were very low. Plasma gonadotropin levels were below normal ranges and did not respond to an infusion test of GnRH. GnRH was administrated iv every 90 min for 3 weeks by an auto syringe infusion pump and induced a pulsatile response of FSH and LH. Plasma levels of testosterone and oestradiol were unaffected. It may be concluded that the results of pulsatile injection of GnRH confirmed in this patient a unique association of Kallmann's syndrome with complete 47 XXY Klinefelter's syndrome.Idiopathic hypogonadotropic hypogonadism re¬ sult in absent or incomplete puberal development. The disease is characterized by low plasma gona¬ dotropin and sexual steroid levels; it appears to be due to a deficiency in GnRH. This type of hypo¬ gonadism may be associated with other inherited abnormalities such as hypo-or complete anosmia, cleft palate or cranio-facial deformities and in rare cases gonadal dysgenesis.In the present study we observed the effects of pulsatile low doses GnRH administration in a male with hypogonadotropic hypogonadism and complete anosmia (Kallmann's syndrome) asso¬ ciated with a 47 XXY gonadal dysgenesis (Klinefelter's syndrome). Material and MethodsHormones assays FSH and LH were determined in vitro in human serum by the principle of competitive protein-binding analysis (RIA-gnost hFSH and RIA-gnost hLH Tachisorb kits from Hoechst-Behring Laboratories) normal male adult range: 0.3-2.3 ng/ml for FSH; 1 ng of hFSH was equivalent to 4 mU hFSH MRC 69/104; normal male adult range 1.1 -3.1 ng/ml for LH; 1 ng of hLH was equivalent to 3.5 mU hLH MRC 68/40. Plasma testosterone was measured by radio-immunoassay as previously described (Abraham et al. 1972) normal male adult range 12 to 41 nmol/1. Plasma oestradiol was measured by a radioimmunoassay; nor¬ mal male adult range 36 to 183 pmol/1.

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A Case of Hypogonadotropic Hypogonadism with an XY/XXY Sex Chromosome Mosaicism

Cited by 11 publications

References 14 publications

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

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

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

Gonadotropin responses to low dose pulsatile administration of GnRH in a case of anosmia with hypogonadotropic hypogonadism associated with gonadal dysgenesis 47 XXY

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