Cases reported "Klinefelter Syndrome"

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1/8. An autopsy case of Klinefelter's syndrome suspected and its dna analysis.

    We experienced an autopsy case, small testes and tall stature, which suggested Klinefelter's syndrome. dna analysis was performed to confirm the genetic abnormality. Case history: A 28-year-old man who was single and lived with his parents. He suddenly lost his consciousness in a sitting room and died. autopsy findings: He was 176 cm in height and 57 kg in weight. The post-mortem hypostasis was red-purple on his back, and rigor mortis was strong in each joint of the whole body. The heart weighted 340 g, in which dark red fluidal blood (300 ml) without coagulation was contained. The testes were smaller than normal adult male (left and right testes with epididymides weighted 8.1 g and 6.0 g, respectively). As a results of pathological examination, clumped leydig cells, sclerotic and hyalined tubules were observed. Some germ cells with spermatozoid were also present. dna Analysis: Generally, Klinefelter's syndrome is determined by karyotype analysis and/or the detection of sex chromatin. However, in this case, karyotype analysis and the detection of sex chromatin could not be demonstrated, because the blood which was collected in the autopsy became too old. Therefore, we tried sex determination and STR analysis (HPRT, HUMARA and DXS 1470) using dna extracted from stored blood materials. Consequently, in the sex determination, no different situation was found in the X- and Y-specific bands from normal male's and as results of STR analyses, we could not corroborate the Klinefelter's syndrome.
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2/8. Acute cerebellar hemorrhage in a patient with klinefelter syndrome: XXY karyotype obtained postmortem from cells from pericardial fluid.

    A case of klinefelter syndrome and a spontaneous cerebellar hemorrhage in a 12-year-old boy is presented. autopsy revealed that the hemorrhage was due to the rupture of a dilated artery in an arteriovenous malformation in the right cerebellar hemisphere. The small, undescended testes exhibited partial atrophy of the seminiferous tubules. Postmortem chromosome analysis of cells from the pericardial fluid demonstrated a 47, XXY karyotype. He had previous surgical treatment for bilateral thumb polydactyly and patent ductus arteriosus. In juvenile cases of sudden death with overlapping morphological dysgenesis, postmortem karyotyping may provide important diagnostic information.
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3/8. Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels.

    An 18 year old phenotypic man is described with chromatin-positive Klinefelter's syndrome and undetectable peripheral human follicle stimulating hormone levels. The subject manifested chromosomal mosaicism consisting of three stem cell lines (45X; 46XY; and 47XXY). Testicular biopsy specimen showed germinal cell aplasia: the tubules were lined by sertoli cells only, whereas the leydig cells appeared normal. serum human follicle stimulating hormone levels were undetectable and rose to only 5 mIU/ml after the administration of luteinizing hormone releasing hormone. serum human luteinizing hormone varied between normal and moderately elevated values, and serum testosterone was in the low normal range. We discuss the features which distinguish this syndrome from isolated gonadotropin deficiency and from classic germinal cell aplasia. We suggest that the patient represents a new variant of Klinefelter's syndrome, with failure of human follicle stimulating hormone release secondary to prolonged hypersecretion.
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4/8. Rare XXY/XX mosaicism in a phenotypic male with klinefelter syndrome: case report.

    klinefelter syndrome represents the most commonly found human sex chromosomal abnormality. It is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Males with klinefelter syndrome may have a 47,XXY or a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. mosaicism 47,XXY/46,XX with clinical features suggestive of klinefelter syndrome, is very rare and so far only 10 cases have been described in literature [1,2,5,8,10,15,22,23,25,44]. We report here a case of a mosaic 47,XXY/46,XX infertile male in whom detailed cytogenetic, histological and molecular studies were performed. cytogenetic analysis revealed 80% and 50% mosaicism for the 46,XX cell line in blood lymphocytes and in skin fibroblasts, respectively, and the presence of 47,XXY cells only, in cultured testicular tissue. Testicular histopathology revealed atrophy of the testes with no spermatogenesis and absence of germ cells. Molecular analysis showed paternal inheritance of the extra x chromosome.
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5/8. cyclosporine A (CyA)-induced decrease of serum gonadotropin levels in a case of Klinefelter's syndrome.

    We report a case of Klinefelter's syndrome who developed a decrease of serum gonadotropin levels, particularly LH, after CyA treatment for complicated focal glomerulosclerosis (FGS). A 38-year-old man suffering from general malaise and pretibial edema was diagnosed FGS by renal biopsy in October 1988, and was referred to our hospital for further evaluation and treatment for FGS in December 1988. He was not married, and closer anamnesis revealed that he had had impaired seminal ejaculation from the age of 30. The physical examination showed 37% obesity, scanty body hair, pretibial edema and small bilateral testes (3.0 x 1.5cm). Laboratory findings included marked proteinuria (5.3g/day) and mild renal dysfunction (serum creatinine 1.3mg/dl, glomerular filtration rate 57.2ml/min). Endocrinologically, high basal levels of LH and FSH (133.6mIU/ml and 93.7mIU/ml, respectively) and the hyperresponses of LH and FSH to LH-RH stimulation were found, but the other pituitary hormone levels, thyroid and adrenal status, were in the normal range. In testicular biopsy, nodularly proliferated leydig cells and no seminal tubules could be seen. The chromosome analysis showed 47,XXY karyotype, which confirmed the diagnosis of Klinefelter's syndrome in this patient. From 9 January 1989, CyA (6mg/Kg.day) was orally administered for 4 weeks in order to treat for FGS. After CyA administration, basal levels of LH and FSH remarkably decreased, particularly LH, and their decrease lasted for at least 6 weeks after cessation of CyA (final levels; LH 28.2mIU/ml, FSH 69.8mIU/ml). On the other hand, serum testosterone level was low normal or slightly under normal, and no apparent changes could be seen during CyA treatment.(ABSTRACT TRUNCATED AT 250 WORDS)
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6/8. infertility in an XX male.

    A case of an infertile male subject with 46XX female karyotype is reported. A testicular biopsy revealed hyalinized tubules with sertoli cells and marked interstitial cell hyperplasia. Chromosomal studies showed the presence of 46 chromosomes with an XX sex chromosome constitution, confirmed with trypsin banding. XX male subjects present an interesting diagnostic problem and need to be differentiated from XXY male subjects with Klinefelter's syndrome. The clinical features of this rare syndrome are discussed and the literature is reviewed.
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7/8. 47,XXY Klinefelter's syndrome with low FSH and LH levels and absence of leydig cells.

    Examination of testicular biopsy from a patient with 47,XXY Klinefelter's syndrome revealed a diffuse hyalinization of seminiferous tubules as well as absence of mature leydig cells. Ultrastructural findings showed some immature leydig cells in the testicular interstitium. Hormone assays revealed low serum FSH and LH levels. The association of both, hormone assays and testicular morphologic pattern, suggests the presence of a Klinefelter's syndrome with hypogonadotropic hypogonadism.
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8/8. Genetic and endocrine findings in a 31-year-old 45,X/46,Xdel(Y)(q12) male.

    This report describes genetic, endocrine, and histological findings in a 31-yr-old 45,X/46,Xdel(Y)(q12) male with gynecomastia and azoospermia. A preponderance of 45,X cells was found in all tissues studied. Endocrine data suggested an abnormal Leydig cell-pituitary gonadotroph axis, although the basal testosterone level and the response to short term administration of hCG were normal. Testicular histology showed Leydig cell hyperplasia and seminiferous tubule atrophy. These findings are compared to 17 similar cases in the literature. A characteristic of all these cases is a morphologically abnormal Y-chromosome, which probably results in the 45,X cell line. The masculinizing genes on the remaining Y-chromosomes are functionally intact and promote a male phenotype in infancy and adolescence. azoospermia is usually present, and gynecomastia or hypogonadism occurs later in life. Comparison with other nonmasculinized 45,X/46,XY cases supports existing theories regarding the function of the various segments of the Y-chromosome.
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