A Case of 48 Xxyy Klinefelter's Syndrome

Ikegami, M; Hashimoto, Kiyoshi; Onishi, Norio; Iguchi, Masanori; Kiwamoto, Hiro; Kurita, Takashi

doi:10.5980/jpnjurol1989.85.1781

Cited by 2 publications

(3 citation statements)

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“…. Among these forms, 48,XXYY KFS is the rarest chromosome karyotype, with an incidence of 1:18 000 to 1:40 000; to date, only around 120 cases have been reported worldwide …”

Section: Introductionmentioning

confidence: 99%

“…1 Among these forms, 48,XXYY KFS is the rarest chromosome karyotype, with an incidence of 1:18 000 to 1:40 000; to date, only around 120 cases have been reported worldwide. 2,3 Incomplete pubertal development commonly occurs in individuals with KFS, whereas KFS with CPP rarely occurs. Here we report a case of a patient with 48,XXYY KFS with CPP and review the literature on this rare condition to explore the possible mechanisms underlying the co-occurrence of KFS and CPP.…”

Section: Introductionmentioning

confidence: 99%

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Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome

Gong

Chen

et al. 2019

Pediatric Investigation

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Introduction Incomplete pubertal development is a common phenomenon found in patients with Klinefelter syndrome (KFS). KFS combined with central precocious puberty (CPP) rarely occurs. We herein report a rare case of KFS with CPP and review several studies to determine the possible mechanism underlying this condition. Case presentation An 8‐year, 5‐month‐old male patient was admitted to our hospital because of enlargement of the penis and small testes. Laboratory evaluation revealed high luteinizing hormone and follicle‐stimulating hormone levels, a high testosterone level, and the 48,XXYY karyotype. He was treated with triptorelin. One year later, the patient's testosterone level decreased and pubertal arrest occurred. Conclusion The literature review in this study showed that the occurrence of hypogonadism combined with CPP is not unique to patients with KFS; it has also been reported in individuals with Turner syndrome, adrenal hypoplasia congenita, and other diseases. Such individuals share common features including partial hypogonadism and a normal hypothalamic‐pituitary‐gonadal axis. CPP is considered a prelude to hypogonadism, and treatment with a gonadotropin‐releasing hormone agonist may prevent gonadal failure.

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“…. Among these forms, 48,XXYY KFS is the rarest chromosome karyotype, with an incidence of 1:18 000 to 1:40 000; to date, only around 120 cases have been reported worldwide …”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome

Gong

Chen

et al. 2019

Pediatric Investigation

View full text Add to dashboard Cite

show abstract

“…Klinefelter’s syndrome is normally characterised by the presence of an excessive X chromosome [1, 2]but, in some cases, by other chromosomal translocational abnormalities [3, 4, 5]. Phenotypically, patients with Klinefelter’s syndrome present as males.…”

Section: Introductionmentioning

confidence: 99%

Does a Positive Oestrogen Feedback on the Hypothalamic-Pituitary Axis Exist Concurrently with a Defective Testosterone Feedback in Klinefelter’s Syndrome?

Goh

Lee²

1998

Horm Res Paediatr

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The oestrogen provocation and GnRH challenge tests were carried out in 5 subjects with Klinefelter’s syndrome who had no history of previous hormonal therapy. The oestrogen provocation test consisted of an intramuscular injection of 10 mg of oestradiol valerate and blood samples were collected daily from day 0 to day 5. In 2 subjects, three GnRH challenge tests were carried out before (day 0) and on days 2 and 4 after the intramuscular injection of oestradiol valerate. During each GnRH challenge test, 7 blood samples were collected at 30-min intervals, 30 min and immediately before and for 150 min after the bolus dose of GnRH. Plasma concentrations of FSH, LH, testosterone and oestradiol were measured by established radioimmunoassays. Plasma levels of oestradiol rose significantly a day following the intramuscular injection of 10 mg of oestradiol valerate, reaching a peak on day 2 and then falling significantly to lower levels by days 4 and 5, although these levels were still significantly higher than the corresponding baseline levels. In the presence of high levels of oestradiol, the high basal levels of FSH were significantly suppressed, and remained suppressed throughout the 5 days of the study. LH, on the other hand, had a biphasic response; an initial significant suppression by day 1 persisting to day 3, but by days 4 and 5 a rebound in basal LH levels was noted. However, the levels on day 5 were not significantly higher than baseline levels. The pituitary responsiveness as far as the LH and FSH secretions were concerned reflected the baseline levels. The results of the present study refuted the claim that a positive oestrogen feedback exists in men including Klinefelter’s syndrome as a result of the removal of or reduced testosterone. In addition, the attenuated testosterone feedback in Klinefelter’s syndrome is responsible for the greatly amplified pituitary responsiveness to the trophic action of GnRH and this, in part, may be responsible for the elevated levels of FSH and LH seen in such patients.

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A Case of 48 Xxyy Klinefelter's Syndrome

Cited by 2 publications

References 0 publications

Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome

Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome

Does a Positive Oestrogen Feedback on the Hypothalamic-Pituitary Axis Exist Concurrently with a Defective Testosterone Feedback in Klinefelter’s Syndrome?

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