Klinefelter's Syndrome and Breast Cancer

Abstract

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...

Etiologic factors for male breast cancer in the U.S. Veterans Affairs medical care system database

“…The medical condition that was most strongly associated with male breast cancer risk in our patient population was Klinefelter syndrome, a relationship well established in other investigations (4,5,18,19). The prevalence of the condition in our population of male breast cancer cases was considerably lower than that of 7.5% noted in a Swedish study (4), undoubtedly reflecting our focus on individuals who were medically qualified to enter military service and be eligible for VA benefits.…”

Primary Cutaneous Apocrine Adenocarcinoma of the Axilla in Klinefelter’s Syndrome: A Case Report

“…6 Patients with Klinefelter syndrome (KS) are known to be at increased risk of breast cancer and gonadal and extra-gonadal tumors. 8,9 The increased ratio of estrogen to testosterone has been postulated to increase the risk of breast cancer in affected individuals. 9 We propose that this hormonal balance may also play a role in the development of PCAA in patients with KS.…”

“…8,9 The increased ratio of estrogen to testosterone has been postulated to increase the risk of breast cancer in affected individuals. 9 We propose that this hormonal balance may also play a role in the development of PCAA in patients with KS.…”

“…Patients with Klinefelter syndrome are known to be at increased risk of breast cancer and gonadal and extra-gonadal tumors, but PCAA has never been reported in these patients. 8,9 We report a case of PCAA in a patient with Klinefelter syndrome.…”

Perspectives in Pediatric Pathology, Chapter 16. Klinefelter Syndrome and other Anomalies in X and Y Chromosomes. Clinical and Pathological Entities

“…In the mediastinum, a possible origin from primordial thymus cells has been speculated [136]. The cause of the high incidence of some tumors may be a direct effect of the chromosomal abnormality (the supernumerary X chromosome) or a combined action of the abnormal chromosomes and hormonal imbalances [137][138][139][140].…”