1/14. A variant klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.klinefelter syndrome is the first human sex chromosomal abnormality to be reported. The majority of klinefelter syndrome patients have the XXY karyotype. Approximately 15% of Klinefelter patients, however, are mosaics with variable phenotypes. Among the variant Klinefelter genotypes are such karyotypes as XY/XXY and XX/XXY. The variation in phenotypes most likely depends on the number of abnormal cells and their location in body tissues. In this paper we report the case of a 42-year-old patient with klinefelter syndrome and a rare variant mosaic XXY/XX karyotype initially identified by GTG-banding. This was confirmed by fluorescence in situ hybridization (FISH) using a dual-color X/Y probe. The patient presented with erectile dysfunction and few other physical findings. Thus, this case illustrates a rare variant of klinefelter syndrome with a relatively mild phenotype. It also illustrates the utility of FISH as an adjunct to conventional cytogenetics in assessing the chromosome copy number in each cell line of a mosaic. In our case, FISH also detected the presence of a small population of cells with the XY karyotype not previously detected in the initial 30-cell GTG-banding analysis. Thus, through a combination of GTG-banding and FISH, the patient was determined to be an XXY/XX/XY mosaic. Given that most individuals with klinefelter syndrome are infertile, and that these individuals may wish to reproduce with the aid of modern reproductive technology, such as testicular fine needle aspiration and intracytoplasmic sperm injection, it is important that accurate estimation of the frequency of abnormal cells be obtained for accurate risk estimation and genetic counseling, as recent studies in patients with mosaic klinefelter syndrome revealed that germ cells with sex chromosomal abnormalities were nevertheless capable of completing meiosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/14. diagnosis and treatment of klinefelter syndrome.Many physicians underestimate the prevalence of klinefelter syndrome and so fail to recognize its more obvious features. Increased awareness of its effects on physical, psychological, and social development should help to dispel persistent misconceptions about the condition and enable earlier diagnosis and more effective treatment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/14. Testicular epidermoid cyst in Klinefelter's syndrome.A 38-year-old Japanese man was referred to our outpatient clinic for treatment of infertility. semen analysis showed azoospermia. Chromosome analysis revealed a 47XXY karyotype, and non-mosaic Klinefelter's syndrome (KFS) was diagnosed. Upon physical examination, the patient's right testicular volume was 30 mL and the left testicular volume was 3 mL. Laboratory tests showed normal levels of lactate dehydrogenase, alpha-fetoprotein, and human chorionic gonadotropin beta-subunit. The plasma luteinizing hormone and follicle-stimulating hormone levels were increased to 15.7 mIU/mL and 45.9 mIU/mL, respectively. The plasma testosterone was decreased to 0.25 ng/mL. magnetic resonance imaging showed a right testicular mass of low-signal intensity on the T1-weighted image and of high-signal intensity on the T2-weighted image. Therefore, the final diagnosis was KFS with a right testicular tumor. Thus, a right high orchiectomy was performed. Histological examination revealed an epidermoid cyst of the right testis. Epidermoid cysts in cases of KFS are rare. To our knowledge, only seven cases, including ours, have been reported in the literature.- - - - - - - - - - ranking = 5.45482625455keywords = physical examination, physical (Clic here for more details about this article) |
4/14. Developmental outcome in 49,XXXXY klinefelter syndrome.The developmental histories of two males who have 49 XXXXY klinefelter syndrome are described. Now aged 16 and six, they have been followed since the ages of four and two, respectively. They have many of the typical physical characteristics described in the literature, but their mental retardation is not as severe as has been reported. Both are moderately delayed in their general development and their personalities and learning styles are more similar to XXY Klinefelter individuals. These two case studies demonstrate previously unreported potential in individuals with this disorder, and the authors discuss the implications of this finding.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/14. 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)- - - - - - - - - - ranking = 5.45482625455keywords = physical examination, physical (Clic here for more details about this article) |
6/14. A case of Graves' disease associated with Klinefelter's syndrome.Graves' disease was found in a 41-year-old, married male patient with Klinefelter's syndrome. The patient began having finger tremor 5 years previously, and developed palpitation and weight loss 3 months prior to examination. He had a diffuse goiter, exophthalmos, and atrial fibrillation. plasma levels of T3, T4 and free T4 were 2.8 ng/ml, 16.6 micrograms/dl and 4.5 ng/dl respectively. [123I] uptake was 53%, and TSH receptor antibody was 75%. Although he had no gynecomastia, his general physical appearance was that of typical eunuchoism. Chromosome studies showed a karyotype of 47,XXY. A diagnosis of Graves' disease associated with Klinefelter's syndrome was made.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/14. incontinentia pigmenti in a male infant with klinefelter syndrome.incontinentia pigmenti is a familial disorder affecting tissues derived from neuroectoderm. Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-linked dominant gene with male hemizygote lethality. This report describes a male infant with the classic clinical features of this condition and a 47,XXY chromosomal constitution. These findings support the concept that incontinentia pigmenti is an X-linked dominant disorder. This case illustrates the importance of a full genetic investigation in all males with physical findings suggestive of an X-linked dominant disorder lethal in males.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/14. Hormone study in a case of klinefelter syndrome with an isochromosome Xq.We investigated the endocrine function of a patient with klinefelter syndrome in which the extra chromosome was an isochromosome Xq. This man was azoospermic but with normal secondary sex characteristics; smallness of the testes was the only abnormal physical finding. High follicle-stimulating hormone (FSH, 70 mIU/mL) and moderately elevated luteinizing hormone (LH, 40 mIU/mL) were found; the FSH and LH response to LH-RH was exaggerated. Androgen and estrogen levels were normal. The insulin test (measure of glycemia, growth hormone, and corticol) and the test with TRH (measure of TSH and prolactin) gave normal results. We conclude that the presence of additional long arms of the x chromosome is sufficient to cause klinefelter syndrome and that the presence of two extra Xq does not intensify the degree of androgenic insufficiency.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/14. Brief report: a case study of an adolescent male with XXXXY Klinefelter's syndrome.The developmental history of a 14-year-old male with Klinefelter's syndrome (XXXXY) is described. A review of the XXXXY literature focuses on the physical complications and the mental deficiency associated with this syndrome. This case study describes an individual whose physical development is consistent with many patterns described in the XXXXY literature, although his retardation is not as severe as generally described. His personality and learning style are more similar to descriptions of XXY Klinefelter individuals. A detailed analysis of more XXXXY cases is essential to clarify developmental patterns and learning capacity in individuals with XXXXY syndrome. Severe retardation may no longer need to be the anticipated developmental outcome.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
10/14. klinefelter syndrome and associated fragile-X syndrome.During screening of male individuals for Fragile-X syndrome in a residential facility for persons with mental retardation, the authors found a 21-year-old profoundly retarded man who displayed facial features and behaviour suggestive of Fragile-X syndrome. The chromosome analysis revealed 47,fra(X)(q27)fra(X)(q27)Y. His physically and intellectually normal sister had 14% of X chromosomes with a fragile site. Her two sons, who were subsequently examined, were found to have Fragile-X syndrome. Thus, the identification of Fragile-X syndrome in the proband during the screening process of a large institution led to the investigation of the proband's family and the subsequent diagnosis of Fragile-X syndrome in the proband's two nephews. The ascertainment of the two affected boys permitted prompt introduction of early intervention and special education services. Genetic counselling of other at-risk family members was carried out.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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