共查询到20条相似文献,搜索用时 31 毫秒
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S. P. Attard-Montalto I. Schuller M. A. Lastowska B. Gibbons J. E. Kingston O. B. Eden 《Pediatric hematology and oncology》1994,11(2):197-200
Patients with a 47, XXY karyotype (Klinefelter syndrome) appear to have an increased risk of developing a malignancy in adulthood, usually cancer of the breast, extragonadal germ cell tumor, and acute nonlymphobhtic leukemia. There is growing evidence to show that these patients also have an increased risk of developing a malignancy in childhood. There are reports describing the development of acute lymphoblastic leukemia, retinoblastoma, and rhabdomyo-sarcoma in children with a 47, XXY or mosaic 47, XXY/46, XY kalyotype. We report a child with a bone metastasizing, B-cell lineage, non-Hodgkin's lymphoma (NHL) who was found to have a 47, XXY karyotype in both the tumor and constitutional cells. 相似文献
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Systemic lupus erythematosus and Klinefelter syndrome 总被引:1,自引:0,他引:1
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A S Everding G Kurlemann H Gerding T B?mbelburg D G Palm F Gullotta S Zierz 《Monatsschrift für Kinderheilkunde》1988,136(10):698-700
In the last years the Kearns-Sayre-Syndrome has been defined with the typical trias of chronic external ophthalmoplegia, pigmentary retinal dystrophy and cardiac conduction defects. Today it is no longer believed to present an entity but a variant of the multiple plussymptoms of the ophthalmoplegia-plus group. In pediatrics the existence of this clinical disorder is not yet well acknowledged. The case of a 16-year-old patient is used as an example for the impressive clinical symptoms and the involvement of several organs in this clinical disorder. The combination with a Klinefelter-Syndrome has not previously been reported. 相似文献
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Masashi Nishida Fusako Hashimoto Hiroshi Kaito Kandai Nozu Kazumoto Iijima Dai Asada Kenji Hamaoka 《Pediatrics international》2016,58(2):152-155
To date, there have been a very limited number of case reports on combined Alport syndrome (AS) and Klinefelter syndrome (KS). We herein describe the case of a 9‐month‐old boy diagnosed with concomitant AS and KS. KS was detected on chromosomal analysis of the amniotic fluid, and hematuria/proteinuria was identified in urinary screening at 6 months of age. Renal biopsy indicated AS, with complete deficit of the α5 chain of type IV collagen in the glomerular basement membranes. On genetic analysis for AS, de novo homozygote mutation (c.3605‐2a > c) was seen in the gene encoding α5 chain of type IV collagen (COL4A5) on the X chromosomes of maternal origin. This is the first case report of combined AS and KS diagnosed during infancy, and it indicates the need to consider the concurrent existence of these two disorders in infants with urine abnormalities, even in the absence of a family history. 相似文献
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Different mechanisms in Klinefelter syndrome contribute to reduced bone mass and osteoporosis, which have a precocious onset and are detected in up to 40% of patients, irrespectively of testosterone levels. Androgen receptor, X chromosome inactivation and INSL3 levels are hypothesized to cooperate with and modulate the effect of testosterone on the bone. CONCLUSION: New perspectives on genetic topics are opening exciting areas of research on the pathophysiology of reduced bone mass in Klinefelter patients. 相似文献
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Conclusions The dermatoglyphic study of these two cases revealed the presence of more arches and loops and less whorls in finger prints,
and a very low ridge count. Loops and even whorls had a tendency for having very few ridges. The axial triradius was situated
quite low, close to the carpal flexion creases, forming a low ‘aid’ angle. There wa no multiplication of axial triradii.
There seems to be a common denominator for the dermatoglyphic findings in both these cases. However, it is not claimed that
they alone can diagnose every case of Klinefelter’s syndrome. Further study is suggested.
From the Department of Pediatrics, King George’s Medical College, University of Lucknow, Lucknow. 相似文献
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Beresford L Fernandez CV Cummings E Sanderson S Ming-Yu W Giacomantonio M 《Journal of pediatric hematology/oncology》2003,25(4):321-323
A 4.5-year-old boy presented with isosexual precocious puberty and an anterior mediastinal mass. Surgical resection demonstrated a teratoma with foci of malignant mixed germ cell tumor elements of polyembryoma. On further investigation he was found to have Klinefelter syndrome. Most mediastinal germ cell tumors are treated with adjuvant therapy. He was managed with surgical excision alone and is well at 2 years follow-up. The rationale for this approach is discussed. 相似文献
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J A Salbenblatt B G Bender M H Puck A Robinson C Faiman J S Winter 《Pediatric research》1985,19(1):82-86
Serum concentrations of follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol were determined at intervals before and during puberty in 40 individuals with Klinefelter syndrome (47,XXY karyotype), of whom 27 had been detected in neonatal cytogenetic screening programs. Prior to the appearance of secondary sexual changes, basal serum hormone concentrations and acute responses to stimulation with gonadotropin-releasing hormone and human chorionic gonadotropin were normal. The timing of the onset of clinical puberty was normal. Early pubertal boys showed initial testicular growth and normal serum testosterone levels, while serum follicle-stimulating hormone and estradiol concentrations were significantly elevated. By midpuberty, the Klinefelter subjects were uniformly hypergonadotropic and their testicular growth had ceased. Serum testosterone concentrations after age 15 remained in the low-normal adult range. Serum estradiol levels remained high, irrespective of the presence or absence of gynecomastia. Exaggerated responses to gonadotropin-releasing hormone are seen in pubertal subjects with elevated basal gonadotropin values. 相似文献
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