1/9. Postmortem diagnosis of "occult" klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis.This report describes a patient not suspected of having klinefelter syndrome during life but diagnosed with it following postmortem examination using fluorescent in situ hybridization (FISH) for sex chromosomes and hormone serum analysis. A 49-year-old Japanese man had a history of nephrosis, heavy alcohol consumption, diabetes mellitus, and liver cirrhosis and had been undergoing dialysis for 10 years. He died of ruptured esophageal varices. autopsy revealed hypogonadism, suggesting klinefelter syndrome. This was confirmed by FISH, which showed a mosaic 46XY, 47XXY karyotype, and by serum analysis, which revealed high luteinizing hormone and follicle-stimulating hormone and low testosterone levels. autopsy also revealed a nodular, bilateral, testicular Leydig cell hyperplasia. This report illustrates the value of postmortem laboratory investigations, particularly FISH for sex chromosomes and serum hormone analysis, for the demonstration of clinically uncertain or "occult" klinefelter syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/9. The pituitary in klinefelter syndrome.BACKGROUND: klinefelter syndrome is a genetically determined primary gonadal defect characterized by the XXY karyotype. The testes are small, blood testosterone levels are low, and blood gonadotropin levels are elevated. Pituitary changes in patients with klinefelter syndrome have not been evaluated in detail. DESIGN: The first patient, a 76-yr-old man, was operated for a large sellar mass. The second and third patients, a 62- and a 52-yr-old man, respectively, died of cardiac failure. Both the latter pituitaries were normal-sized and removed at autopsy. The diagnosis of klinefelter syndrome was confirmed by genetic testing in all three cases. The formalin-fixed and paraffin-embedded pituitaries of three patients were evaluated for adenohypophysial hormone immunoreactivity. For immunohistochemistry, the streptavidin- biotin-peroxidase (ABC) complex method was applied. RESULTS: In case 1, histology and immunohistochemistry revealed an oncocytic gonadotroph macroadenoma immunoreactive for FSH and alpha subunit. No pituitary gland was evident. The pituitary of case 2 featured hyperplasia of gonadotrophs, some with features of "gonadal deficiency cells," and a microadenoma immunoreactive for GH. The pituitary of case 3 similarly showed hyperplasia of gonadotrophs and the formation of gonadal deficiency cells. CONCLUSION: Protracted stimulation of gonadotrophs due to lack of androgen feedback might have been a factor in the formation of the gonadotroph adenoma in case 1 and in the development of gonadotroph hyperplasia in cases 2 and 3. The clinically silent GH microadenoma of case 2 was regarded as an incidental finding.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/9. Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous.Axenfeld-Rieger syndrome is inherited in an autosomal dominant pattern and is characterized by anomalies of the anterior segment of the eye and systemic signs including craniofacial dysmorphic features and cardiac defects. The disorder is genetically heterogeneous and one causative gene, FOXC1, is located on chromosome 6p25. persistent hyperplastic primary vitreous (PHPV) is a congenital ocular disorder in which there is a failure of the normal regression of the primary vitreous and a proliferation of fibrous tissue from the remnants of the primary vitreous. Deletions of chromosome 6p25 have been reported in a small number of patients with Axenfeld-Rieger syndrome; however, no case of chromosome 6p25 deletion has been reported with PHPV. We report a newborn girl who had both Axenfeld-Rieger syndrome and the combined type of PHPV, in whom the G-banding and spectral karyotyping revealed a 6p monosomy of terminal deletion with a breakpoint at chromosome 6p25.1. The karyotype was 46,XX,del(6)(p25.1). We conclude that PHPV in the context of Axenfeld-Rieger syndrome can be caused by 6p25 terminal deletion.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/9. True prostatic tissue in 46,XX female with adrenogenital syndrome.A case is presented of a seventeen-year-old phenotypic male with empty scrotum, hormonal studies consistent with adrenogenital syndrome, a 46,XX karyotype, and a normal prostate on rectal examination. Histochemical evidence of the true nature of the prostatic tissue is presented, and the developmental aspects of the case are discussed.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/9. Cytogenetic and molecular genetic studies of a patient with atypical lymphoid hyperplasia.We have karyotyped cells from a lymph node of a patient with atypical lymphoid hyperplasia. Among other clonal chromosomal abnormalities, a t(2;19) translocation was observed with breakpoints at 2p11.2 and 19q13. The genes for transforming growth factor alpha and beta have been mapped to 2p11-p13 and 19q13, respectively, but Southern blot analysis did not reveal any alteration in the structure of these genes. Similarly, the kappa immunoglobulin gene, which maps to 2p11-p12 was not rearranged. In addition, Southern blot analysis using immunoglobulin and T-cell receptor genes as probes, did not demonstrate any clonality of either B or T cells. We propose that this patient represents an early, polyclonal stage of atypical hyperplasia. The chromosome changes observed may have been one of the etiologic factors causing this disorder.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/9. Progression of essential thrombocythemia to blastic crisis via idiopathic myelofibrosis.We report a 61-year-old man with essential thrombocythemia (ET) whose clinical course was followed for 12 years. The ET evolved into true idiopathic myelofibrosis (IM) 6 years after the initial diagnosis and progressed to myeloid blastic transformation 6 years later. The cytogenetic analysis showed a normal karyotype during the ET phase but subsequent analysis revealed an abnormal karyotype during the IM phase which evolved clonally at blastic crisis with constant involvement of chromosome 13q and chromosome 7. The close monitoring of essential events, using clinical, morphologic, immunologic and cytogenetic parameters, allowed us to carefully identify the transition from one chronic myeloproliferative disease (MPD) to another. This is only the second case reported showing a clinical evolution of this nature. The clinical and biological aspects of the disease are briefly discussed.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
7/9. Multiple clonal chromosome aberrations in a case of childhood focal nodular hyperplasia of the liver.A case of focal nodular hyperplasia is described that was accompanied by intense reactive stromal changes giving rise to a pseudosarcomatous appearance. Cytogenetic study revealed complex karyotypic abnormalities including five partially identifiable clonal aberrations and one marker chromosome. The composite karyotype was interpreted as: 45-46,XY,add(4)(q21-25)[24], add(11)(p14)[24], add (19)(p13)[15], der(20)t(1;20)(q25;p12)[31], add(21) (q22)[13],-22[3], mar[2][cp31]. In addition, quadriradial or complex figures, telomeric associations tas, unidentified ring chromosomes, chromosome breaks, and markers were seen in some cells. Such cytogenetic findings, although suggestive of malignancy, could most likely be related to a nonneoplastic condition, i.e., the unusual florid reactive changes associated with this focal nodular hyperplasia.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/9. Pituitary hyperplasia in a girl with gonadal dysgenesis and primary hypothyroidism.A 16-year-old Brazilian girl presented with severe growth retardation (-6.3 SDS), obesity, delayed pubertal development, facial dysmorphia, dry skin, and borderline low intelligence (IQ 89). Endocrinological evaluation showed primary hypothyroidism (no uptake of iodine-131 of the right thyroid lobe). Basal and stimulated gonadotropins were increased and ultrasonography revealed hypoplastic ovaries. The karyotype of peripheral lymphocytes was 46,X,i(Xq). The GH response in euthyroid condition after stimulation with GHRH and insulin was diminished. MRI of the pituitary region showed a suprasellar mass (12 x 15 mm) which was removed by transsphenoidal surgery because of extension to the optic chiasm. Histological examinations revealed regular pituitary tissue with hyperplasia of TSH- and FSH-producing cells. thyroxine treatment was adjusted and GH was given. We conclude that the suprasellar mass was the consequence of long-lasting hypothalamic overstimulation with TRH and LHRH, due to gonadal and thyroid insufficiency.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/9. Translocation (10;12)(q24;q15) in a T-cell lymphoblastic lymphoma with myeloid hyperplasia.We present a case of childhood T-cell lymphoblastic lymphoma (T-LBL) with a translocation (10;12)(q24;q15) as a main clonal abnormality, which to our knowledge is the first reported karyotype of this malignancy. The patient's peripheral blood and bone marrow showed marked leukocytosis mostly myeloid lineage cells, at diagnosis. The enlarged lymph node consisted of two different cell populations: CD2 /CD7 prothymic lymphoblasts and a cluster of peroxidase-positive myeloid cells around vessels. This case might represent a rare but distinct clinical entity of LBL.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |