Pituitary and Gonadal Function in Chromatin Positive XXY Klinefelter's Syndrome

Shirai, Masamitsu; Matsuda, Shinya

doi:10.1620/tjem.110.347

Cited by 3 publications

(4 citation statements)

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“…Our previous cases with XXY/47 generally showed satisfactory responses to LH-RH loading, leading us to conclude that the function of the pituitary in those cases was normal (Shirai and Matsuda 1973). In the present case, however, the testes remained without auxano-differentiation, and there was endocrinologic evidence of abnormally low levels of testosterone and gonadotropin in plasma.…”

Section: Discussionsupporting

confidence: 48%

“…In our previously reported 22 cases of positive sex chro matin with XXY/47 (Shirai and Matsuda 1973), the seminiferous tubules were hyalinized and atrophied, and Leydig cells, though often not clumped, were present in the interstitial tissue. In the present case, however, histological obser vations showed neither auxano-differentiation of the testes nor hyalinization of the seminiferous tubules.…”

Section: Discussionmentioning

confidence: 83%

“…They suspected that the hyalinization and atrophy of the seminiferous tubules found in most cases of Klinefelter's syndrome might be induced by an excessively high level of gonadotropin after adolescence, and that in their particular case the seminiferous tubules had been prevented from falling into atrophic hyalinization probably because gonadotropin secretion had not significantly increased. However, recent radioimmunoassay of hormones performed in patients with Klinefelter's syndrome has revealed that even those with XXY/47 not always have high levels of gonadotropin (Shirai and Matsuda 1973). This result indicates that increased gonadotropin secretion is not the only factor responsible for atrophic hyalinization of the seminiferous tubules.…”

Section: Discussionmentioning

confidence: 99%

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

Shirai

Matsuda

Mitsukawa

1974

Tohoku J. Exp. Med.

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Section: Discussionsupporting

confidence: 48%

Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

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

Shirai

Matsuda

Mitsukawa

1974

Tohoku J. Exp. Med.

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“…In prepuberty LH-RH and hCG tests indicated normal functioning which permitted the normal onset of puberty. Towards mid-puberty the exaggerated response of FSH to LH-RH and the subsequent rise in basal levels of FSH indicated a progressive failure of the negative feedback mechanism which regulates this hormone, probably due to dysfunction of the seminiferous tubules which is thought to be related to a lack ofinhibin [11,28,30,32]. It has been suggested that the prolonged elevation of FSH secretion demonstrated in patients with Klinefelter syndrome may accelerate the primary process of fibrosis and hyalinization of the seminiferous tubules [4].…”

Section: Discussionmentioning

confidence: 99%

Puberty in 24 patients with Klinefelter syndrome

et al. 1982

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Abstract. Twenty four boys with Klinefelter syndrome, 18 of whom were diagnosed prepubertally, were observed until adulthood. Onset of puberty, as judged from testicular enlargement and pubic hair development, occurred between 11 to 14 years in the above 18 patients. By the age of 17 pubic hair, penile length and height had reached the adult stage in all patients, but arrest of testicular growth was noted at midpuberty, 13 years, with maximal mean (+_ SD) volume attained being 3.5 4-1.5 ml. The first conscious ejaculation was reported to have occurred between 13 to 16 years in 10 patients and in the remaining 4 between 17 to 18 years of age. Sperm counts obtained after the age of 18 revealed azospermia or severe oligospermia in all patients except one, who had a sperm count of 30 • 106/ml. The hypothalamic-pituitary-gonadal axis, assessed by LH-RH and hCG stimulation tests, was found to be normal in prepuberty and during early pubertal stages. From mid-puberty the basal levels of plasma FSH and the response to LH-RIt showed a gradual increase above the normal. Towards late puberty (> 15 years) basal and peak levels of LH were above normal with a concomitant decrease in the basal level of testosterone and its response to hCG.These findings indicate that during childhood and early puberty function of the hypothalamic-pituitary-gonadal axis is normal in Klinefelter syndrome, allowing the onset of pubertal signs at the appropriate age, and that until late puberty there is a relative preservation of function in the testicular Leydig cells, permitting the normal sequential development of the androgen-dependent pubertal signs. The measurement of testicular testosterone reserve by means of hCG stimulation constitutes a useful aid in determining when and if testosterone replacement therapy should be instituted. Key words: Klinefelter syndrome -PubertyThe clinical, hormonal and histological picture of Klinefelter syndrome has been given wide attention in the literature since the original description published in 1942 [13]. Histological studies indicate that testicular damage is already present in the perinatal and prepubertal periods [15,21]. The progression of these changes during puberty has been found to lead to faulty spermatogenesis [10] as well as a decrease in testosterone production and secretion by the testes [14,31] with signs of hypovirilization in most of these patients [8].Reprint requests to: Prof. Z. Laron, Institute of Pediatric and Adolescent Endocrinology, Beilinson Medical Center, Petah Tikva 49 100, Israel Presented here are the findings made during long-term follow-up in 24 patients with Klinefelter syndrome, most of whom had been diagnosed before puberty. It was the aim of this study to investigate the sequence of the clinical and hormonal changes taking place and their inter-relationships, before and during puberty. Patients and MethodsThe patient material comprised 24 patients in all of whom the diagnosis of Klinefelter syndrome was confirmed by chromosomal studies. In 18, diagnosis was made before ...

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