Klinefelter Syndrome: Predisposition to Acute Non-Lymphocytic Leukæmia?

Geraedts, J. P. M.; Mól, Anna; Briët, E.; Hartgrink-Groeneveld, C.A.; Ottolander, G. J. den

doi:10.1016/s0140-6736(80)91274-x

Cited by 26 publications

(8 citation statements)

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“…The cause of the high incidence is still unknown. These patients appear predisposed to the develop ment of germ cell tumors, acute lymphocytic leucemia, the carcinoma of the lung and the breast (Geraedts et al -1980;Lynch et al -1976;Sogge et al -1979). As in other chromosomal abnormalities the frequency of malignancies is raised in Klinifelter's syndrome (Harnden -1976).…”

Section: Discussionmentioning

confidence: 99%

“…The frequency of breast cancer in this syndrome has been explained by chromosomal abnormalities like the presence of two X chromosomes as well as by gynecomastia. These patients appear predisposed to the develop ment of germ cell tumors, acute lymphocytic leucemia, the carcinoma of the lung and the breast (Geraedts et al -1980;Lynch et al -1976;Sogge et al -1979). At the age of 18 the diagnosis of a hypogonadism with azoospermia was established.…”

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Klinefelter's Syndrome and Breast Cancer

et al. 2009

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IntroductionIn 1965 Jackson (Jackson et al. -1965) reported an unusually high incidence of Klinefelter's syndrome in man with breast cancer. That observation was confirmed by other reports. Including the case reported in the present paper 28 cases of breast cancer associated with Klinefelter's syndrome have been described. The frequency of breast cancer in this syndrome has been explained by chromosomal abnormalities like the presence of two X chromosomes as well as by gynecomastia. The present report describes hormonal alterations, which might be of influence in this disease. Case reportIn 1978 a 44 year old man was admitted to the department of internal medicine for evaluation of bilateral gynecomastia which has been known since 2 years. At the age of 18 the diagnosis of a hypogonadism with azoospermia was established. Since then a decrease of libido was noticed. He showed no eunuchoid habitus. The axillary and pubic hair were normal, but beard was scanty. The phallus was normally developed. The testes were small with a volume of 5 ml. The diagnosis of a Klinfelter's syndrome was suggested. The chromatin positive buccal smear and the XXY karyotype of the chromosomes confirmed the diagnosis. Plasma levels of LH, FSH and prolactin were measured by RIA-KID'S; standards of MRC 68/40 and 69/ 104 respectively were used for calibration. Plasma testosterone was assayed according the method of Nieschlag. The plasma concentrations were: LH = 45.0 mIU/ml, FSH = 18.0 mIU/ml, prolactin = 8.2 ng/ml and testosterone = 3.0 ng/ml. The values were interpreted as a hypergonadotropic hypogonadism with normal prolactin. The patient was subsequently treated with 250 mg testosterone-enanthate at four weeks intervals.In September 1980 the patient again was admitted to the hospital because of painful left breast with retracted mamilla, which showed secretion since 6 months. The mammography suggested an infiltrating carcinoma of the left breast and a gynecomastia Vera of the right. The histological examination revealed an infiltrating undifferentiated carcinoma of the mamms with a productive fibrosis. The determination of steroidhormone receptors in the tumor tissue was carried out by incubation with tritiated estradiol, progesterone (R 5020), dihydrotestosterone and dexamethasone and separation by agargel electrophoresis. 1 13 fmol of estradiol and 45 fmol progesterone were bound per mg cytoplasmatic protein. Both values are above the normal range. Androgenand corticosteroidreceptors could not be detected. andrologia 14 (1982) 318 R. Ries et al.For the evaluation of distant metastases a chest x-ray, an ultrasonogram of the abdomen and the bone scan were performed. No metastases could be detected. The axillary nodes were free. According to the staging classification the tumor had a TI NoMo status. All laboratory data except of the sedimention rate were in the normal range. The carcinoembryonic antigen (CEA) was not elevated. Postoperative radiation therapy was given for one month with a total tumor dose of 46 gy.During a testosterone in...

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Klinefelter's Syndrome and Breast Cancer

et al. 2009

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“…A., May 12, 1982) It has been known that Klinefelter's syndrome is associated occasionally with myeloprolif erative disorders, particularly in a majority of cases with different forms of leukemia. The literature refers to only one case of polycythemia vera in association with this syndrome (Geraedts et al, 1980) . In this paper are reported the chromosomes of a male patient who had symptoms and signs of Klinef elter's syndrome with diabetes mellitus and developed later polycythemia vera.…”

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“…The literature refers to only one case of polycythemia vera in association with this syndrome (Geraedts et al, 1980) . In this paper are reported the chromosomes of a male patient who had symptoms and signs of Klinef elter's syndrome with diabetes mellitus and developed later polycythemia vera.…”

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A chromosome study in a case of Klinefelter's syndrome associated with diabetes mellitus and polycythemia vera.

Hoshino

Nakada

Ishitobi

et al. 1982

Proceedings of the Japan Academy. Ser. B: Physical and Biologic

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(Communicated by Saj iro MAKINO, M. J. A., May 12, 1982) It has been known that Klinefelter's syndrome is associated occasionally with myeloprolif erative disorders, particularly in a majority of cases with different forms of leukemia. The literature refers to only one case of polycythemia vera in association with this syndrome (Geraedts et al., 1980) . In this paper are reported the chromosomes of a male patient who had symptoms and signs of Klinef elter's syndrome with diabetes mellitus and developed later polycythemia vera.Case report. The patient was born in 1913 between a 48-yearold father and a 29-year-old mother. He married at the age of 26 years, but has no children. He is the third of five siblings, and all the siblings have children except the youngest brother who died in the World War II. There is no consanguinity in his family. Diabetes mellitus was diagnosed at the age of 50 years. At the age of 62 years, conj unctival congestion and erythema of the hands were noted. His red blood cell count was found to be markedly elevated at the age of 65 years. Then he was referred to our clinic due to polycythemia and diabetes mellitus.On physical examinations the patient was 171 cm tall, weighed 65 kg, and had an arm span of 175.5 cm (Fig. 1). His skin was deep red in color on the cheeks, lips, ears, tip of the nose and distal portions of the extremities. Bulbar and palpebral conjunctivae were markedly congested. He had bilateral gynecomastia and cubitus valgus, and a simian crease on the right hand. The axillary and pubic hair was scanty, and the testes were small measuring 2.5 by 1.5 cm on both sides. Hepatosplenomegaly was noted.Hematological examinations revealed RBC 938 x 104/cmm, Hb 24.0 g/dl, Ht 79.2% and WBC 12,400/cmm with 78% neutrophils and 8 % eosinophils. Platelet count was 7.2 x 104/cmm, while it was 45.3 x 104/cmm after a series of phlebotomy totaling 740 ml. Erythrocyte sedimentation rate was 0 mm in one hour. Blood chemistry

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Short stature in a patient with Klinefelter syndrome and growth hormone deficiency

Rossodivita

Colabucci

1994

Am. J. Med. Genet.

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We report on a child with Klinefelter syndrome and short stature due to idiopathic growth hormone deficiency (IGHD). His height was below the mid-parental height, with a significant delay in bone age. Height velocity increased from 4.5 to 8.2 cm/year during 1 year of GH therapy and typical catch-up growth was observed. No adverse reactions to the treatment were observed. We wish to emphasize the rare association between Klinefelter syndrome and IGHD and the apparent effectiveness and safety of recombinant somatotropin treatment in aneuploid patients.

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Klinefelter Syndrome: Predisposition to Acute Non-Lymphocytic Leukæmia?

Cited by 26 publications

References 2 publications

Klinefelter's Syndrome and Breast Cancer

Klinefelter's Syndrome and Breast Cancer

A chromosome study in a case of Klinefelter's syndrome associated with diabetes mellitus and polycythemia vera.

Short stature in a patient with Klinefelter syndrome and growth hormone deficiency

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