1/15. The role of lipoaspiration in defeminization of klinefelter syndrome: a case report.klinefelter syndrome is the most frequent sex chromosome anomaly. Affected men characteristically present a tall stature, eunuchoid contours with feminine fat distribution, gynecomastia, hypogonadism, infertility, and behavioral and psychiatric disorders. diagnosis is confirmed by karyotype, which demonstrates an extra x chromosome. Treatment is mainly directed toward appropriate defeminization. Current treatment consists of testosterone replacement therapy and surgical correction of gynecomastia.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/15. Clonal karyotypic abnormalities in gynecomastia.gynecomastia is a benign condition that frequently occurs in the male breast gland; however, the cytogenetic data on this entity are very limited. To our knowledge, three cases have been reported in the literature, and the only one with an abnormal karyotype had a concomitant breast carcinoma. In this study we report clonal chromosomal alterations in a gynecomastia sample without any signs of adjacent malignant tissue. The nonrandom abnormalities observed were a deletion of 12p, monosomies of chromosomes 9, 17, 19, and 20, and the presence of a marker chromosome. Most of these alterations have been previously described in the literature in other breast lesions, including benign and malignant (male and female) tumors, indicating their recurrence and nonrandomness in abnormal processes of the mammary gland.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/15. A case of hypogonadotrophic hypogonadism with anosmia (Kallmann's syndrome) in a male, with familial incidence of a small metacentric chromosome (47,XX, mat? ).A case of Kallmann's syndrome in a male is reported. Besides the classical picture of hypogonadotrophic hypogonadism (demonstrated both by endocrine investigation and a testicular biopsy) with anosmia, a number of other unusual features are present including gynaecomastia, agencies of the anterior brachial muscles, some dental abnormalities, and dyschromatopsy. The karyotype, studied on peripheral lymphocytes, shows, in the propositus as well as in his mother, the presence in all mitoses of an extra small metacentric chromosome; its derivation is uncertain.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/15. cleft palate and complex chromosome rearrangements.Two of three unrelated children with de novo congenital complex chromosome rearrangements (CCR) with more than four chromosome breaks had cleft lip and palate as one of several congenital anomalies. In patient 1, unilateral complete cleft of the primary and secondary palates accompanied severe ectrodactyly, bilateral posterior choanal atresia and several minor congenital anomalies. Karyotypes of peripheral lymphocytes and skin fibroblasts showed five derivative chromosomes with six break points. There were two translocations, t(2;5), t(3;11) and an interstitial deletion, del(13)(q12q14). Patient 2 had a bilateral complete cleft of the lip and palate, in addition to slow pre- and postnatal growth and minor congenital anomalies. Peripheral lymphocytes and palatal mucosa fibroblasts karyotypes showed five derivative chromosomes with six break points. A partial deletion of 10p, two translocations, t(2;3), t(7;18) and an inversion of the derivative chromosome 2 were present. In both patients, a "major catastrophe" of unknown etiology in one of the parental gametes appeared to be the event leading to the stable CCR without evidence of persistent chromosome instability. All four parents had normal karyotypes. The presence of palatal clefts in these patients indicates that dysmorphologists and pediatricians have to consider CCR whenever taking care of a patient with cleft palate, particularly if additional anomalies, no matter how subtle, are present. The detection and interpretation of the latter anomalies are essential for the diagnosis and management of these patients. Accurate cytogenetic diagnosis determines the short- and long-term prognosis and facilitates genetic counseling in regard to life-span, quality of life and reproductive plans of patients and parents.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
5/15. Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism.We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a xyy karyotype.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/15. True hermaphroditism with characteristics of Klinefelter's syndrome: a rare presentation.True hermaphroditism, a very rare cause of intersex, is usually diagnosed during the newborn period in the course of evaluating ambiguous genitalia. As an exception we report an unusual case of a 14.5 year-old boy with phenotypically near-normal male genitalia and bilaterally descended gonads, who was seen for evaluation of gynecomastia and hematuria. His eunuchoid body habitus and mild mental retardation were compatible with Klinefelter's syndrome. He had a low level of free testosterone (15.2 pmol/l), and high level of estradiol (264.3 pmol/l) for his age. The patient was diagnosed as true hermaphroditism with 46,XX /47,XXY karyotype causing an ovotestis with inguinal uterus hernia in the left scrotum and a dysgenetic testis in the right scrotum.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/15. Familial male pseudohermaphroditism with gynaecomastia due to 17 beta-hydroxysteroid dehydrogenase deficiency. A report of 3 cases.Three sisters with male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency are described. On the basis of a 46 XY karyotype and female phenotype all subjects were thought to have the testicular feminization syndrome. At puberty the two older patients developed signs of virilization and gynaecomastia. In these patients the plasma androstenedione level was 4-5 times higher than normal, whilst the plasma testosterone level was low compared to the normal range and, under basal conditions, their plasma androstenedione to testosterone ratio was 20-25 times higher than normal. Interestingly, in the third, prepubertal case, the basal androstenedione to testosterone ratio was normal but became six times higher than normal after hCG stimulation. These data support the diagnosis of male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency and underline the diagnostic value of the hCG stimulation test prepubertally.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/15. A phenotypic male with true hermaphroditism and a 46,XX/46,XY/47,XXY karyotype.A phenotypic boy presenting with gynaecomastia showed a mixed karyotype of 46,XX/46,XY/47,XXY. The left gonad was normally descended into the scrotum, but proved to be an ovary without any testicular structures. After left gonadectomy, plasma androgen and estrogen levels showed that the right gonad only contained testicular tissue. Seven patients with this form of triple mosaicism have been described but the clinical features are strikingly different among the described cases.- - - - - - - - - - ranking = 5keywords = karyotype (Clic here for more details about this article) |
9/15. Hypophyseal tumor and gynecomastia preceding bilateral breast cancer development in a man.The case is reported of a 48-year-old man who, 26 years after treatment for a hypophyseal tumor and 11 years after the onset of bilateral gynecomastia, developed cancer of the left breast. Ten years after the first breast cancer operation a new cancer developed in his right breast. Hormonal investigation at the time of the second breast cancer operation revealed a low S-FSH and a relative estrogen excess compared to testosterone. Values of thyroid and adrenal hormones were essentially normal, while P-prolactin was elevated. Stimulatory tests of the hypophyseal function were in accordance with a partial hypophyseal insufficiency affecting the hypophyseal-gonadal axis. Also, a weak elevation of S-HGH was noted by an insulin tolerance test. Immunohistochemical analysis of the pituitary tumor 36 years later showed that the tumor could be classified as a prolactinoma. cytogenetic analysis revealed a normal male chromosome karyotype.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/15. prevalence of Klinefelter's syndrome (47,XXY) in a general male population.In a representative sample of 3,840 males examined for military service chromosome examination was made in those with testes equal to or less than 12 ml and those with a stature equal to or greater than 181 cm, as well as in males not recruited because of physical or mental disability. Testes equal to or less than 12 ml were found in 59 patients (1.45%). Three of these males had a 47,XXY karyotype (5.1%), the prevalence among the total sample of 3,840 being 0.78 per 1,000. Hypogonadal signs, except for gynaecomastia, which was only present in one patient, were found in the saem proportion as in 47,XXY males ascertained in institutions and clinics. The results of EEG investigations were alos similar to those found in psychiatric institutions. The intelligence level was comparatively low; none had an IQ above 100. The personality traits corresponded to those found in institutionalized Klinefelter males.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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