1/12. Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen.We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity. Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordination, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [karyotype 46, XY, del (18)(p11.1)] developed progressive asymmetric dystonia. She had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic movements of the right arm, severe dystonic posturing of the left arm, and spastic dystonia in both legs. Her response to parenteral or oral benzodiazepines, oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were brief and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chronic intrathecal baclofen therapy via pump has been effective in this case and should be considered as a treatment modality in carefully selected patients with dystonia.- - - - - - - - - - ranking = 1keywords = androgen (Clic here for more details about this article) |
2/12. Autosomal dominant familial spinal and bulbar muscular atrophy with gynecomastia.The proband, a 53-year-old man, developed progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 50. His father had weakness of lower limbs, and his son had a nasal voice, ocular movement abnormalities, and gynecomastia, whereas two of the proband's brothers showed either gynecomastia or tongue fasciculations. None of the patients showed any expansion of CAG repeat in the androgen receptor gene or any hormonal abnormality. Thus, this family is affected by a form of autosomal dominant spinal and bulbar muscular atrophy with gynecomastia.- - - - - - - - - - ranking = 1keywords = androgen (Clic here for more details about this article) |
3/12. fluorescence in situ hybridization to assess transitional changes of aneuploidy for chromosomes 7, 8, 10, 12, 16, X and Y in metastatic prostate cancer following anti-androgen therapy.There have been few detailed studies conducted on the cell population in relation to cytogenetic changes between the pre- and post-treatment periods in patients with prostate cancer. We investigated numerical chromosome changes associated with anti-androgen therapy, using fluorescence in situ hybridization (FISH). FISH using chromosome-specific centromeric probes was used to assess transitional changes in the frequency of aneuploidy for chromosomes 7, 8, 10, 12, 16, X, and Y in prostate cancer during the pre- and post-treatment periods. Gains of chromosomes 7, 8 and 12 were notable in the pre-treatment samples (8 out of 9 cases in chromosome 7; 8 out of 9 cases in chromosome 8; 7 out of 9 cases in chromosome 12), while a notable reduction in the number of cells with extra copies of these chromosomes was observed in post-treatment specimens. Other chromosomes did not show noticeable change in their FISH signals at each phase of clinical treatment in all 9 cases. Changes in cell number with high ploidies of chromosome 7, 8 and 12 reflect the clinical effects of anti-androgen therapy at the early phase, which might explain the androgen dependency of metastatic prostate cancer cells.- - - - - - - - - - ranking = 7keywords = androgen (Clic here for more details about this article) |
4/12. Hereditary angioedema in a family.Hereditary angioedema is an uncommon clinical condition. life-long episodic brawny and non-itchy swelling of the extremities, face and trunk, with episodic abdominal pain and familial occurrence are the typical features. Oedema causing obstruction of airways may lead to suffocation and even death. The diagnosis can be confirmed by finding low levels of C1 esterase inhibitor, C4 and C2. Therapy with synthetic androgenic agents can ameliorate the condition to a large extent.- - - - - - - - - - ranking = 1keywords = androgen (Clic here for more details about this article) |
5/12. Presence of h-y antigen and testis in 46, XX true hermaphroditism, evidence for Y-chromosomal function.Endocrinologic and serologic studies of a 2-year-old child with the chromosomal complement 46,XX and ambiguous genitalia suggested the preoperative diagnosis of true hermaphroditism. Urinary and serum androgen production in response to human chorionic gonadotrophin was in the range expected for normal males, implying presence of cryptic testicular tissue. Moreover, detection of h-y antigen, a cell surface component associated with testicular differentiation and coded or regulated by a Y-chromosomal gene, indicated presence of Y-chromosomal material. The diagnosis of true hermaphroditism was confirmed at surgery. Assuming a constant association of h-y antigen and testicular differentiation is established, human H-Y serology may be an important adjunct to the endocrinologic evaluation of intersex patients. Our studies support the interpretation that a Y-chromosomal translocation too small for cytologic detection accounts for testicular differentiation in 46,XX true hermaphroditism. Expression of h-y antigen remained positive after castration.- - - - - - - - - - ranking = 1keywords = androgen (Clic here for more details about this article) |
6/12. male pseudohermaphroditism, partial androgen receptors defect, 11p13 deletion: indication of gene localization.A partial androgen receptor defect was found in a boy with male pseudohermaphroditism and an 11p13 deletion. We hypothesize that a gene responsible for the function or structure of androgen receptors might be localized in the 11p13 band or in close proximity to it.- - - - - - - - - - ranking = 6keywords = androgen (Clic here for more details about this article) |
7/12. Hematologic and cytogenetic remission of 5q-refractory anemia after syngeneic bone marrow transplantation.Refractory macrocytic anemia with hypolobulated megakaryocytic nuclei and partial deletion of the long arm of chromosome 5 has been termed the 5q- syndrome. Although long survival has been reported in a few cases of 5q- refractory anemia, accumulating evidence suggests that this syndrome is a preleukemic state with risk of transformation to acute nonlymphocytic leukemia as well as complications of bone marrow failure. This report describes the first apparently successful therapy for this disorder in a young man who originally presented with a clinical picture consistent with pure red cell aplasia and normal marrow chromosomes but with hypolobulated megakaryocytic nuclei. He was treated with vitamins, androgens, and sequential trials of immunosuppressive therapy, all without response. Two years after diagnosis, repeated marrow cytogenetic studies showed a 5q- abnormality in 70 percent and later in 100 percent of marrow metaphases. Because of transfusion-induced hemosiderosis and the availability of a cytogenetically normal monozygotic twin, bone marrow transplantation was undertaken. In light of the clonal (and suspected preleukemic) nature of the 5q- syndrome, the patient's marrow was ablated with a busulfan plus cyclophosphamide regimen used for patients with nonlymphocytic leukemia. Sustained engraftment of cytogenetically normal marrow ensued. Two years after transplantation, and following six months of regular phlebotomy, the patient was hematologically normal with a normal serum ferritin level.- - - - - - - - - - ranking = 1keywords = androgen (Clic here for more details about this article) |
8/12. Fanconi's anemia. Clinical study of six cases.Six cases of constitutional aplastic anemia (Fanconi's anemia), including four boys and two girls who were between 6 and 10 years of age, are presented. congenital abnormalities were observed in all the patients, especially skin pigmentations, renal anomalies, and growth retardation. The initial symptoms were insidious, mainly related to the anemia. All patients were anemic and thrombocytopenic, but only three were leukopenic. Five cases showed increased levels of fetal hemoglobin, which was marked in two. Bone marrow obtained by aspiration and/or biopsy was hypocellular in all cases. Chromosomal studies showed breaks, ring- or cross-chromosomes, chromosome exchanges, and endoreduplications. Five cases were treated with androgens and a good response was obtained in all of them. Four patients died, and the remaining two are alive and well. The clinical and biological features of these patients are in accordance with those of previous reports. The importance of the androgen therapy is stressed; androgen dependence was observed in all cases.- - - - - - - - - - ranking = 3keywords = androgen (Clic here for more details about this article) |
9/12. Removal of gonads in Y-chromosome-bearing gonadal dysgenesis and in androgen insensitivity syndrome by laparoscopic surgery.BACKGROUND. This paper addresses the value of laparoscopic surgery for the removal of gonads in patients with Y-chromosome-bearing gonadal dysgenesis and androgen insensitivity syndrome, who are otherwise faced with a high rate of gonadal malignancy. methods. Three patients with Y-chromosome-bearing gonadal dysgenesis and one patient with androgen insensitivity syndrome were operated upon laparoscopically. Removal of gonads was accomplished by their mobilization and dissection from the pelvic side walls, with ligation and transection of the utero-ovarian and infundibulopelvic ligaments. RESULTS. Surgery was without complications. Histological examination of the gonads showed complete removal and absence of malignancy in each patient. patients were discharged the day after surgery. CONCLUSIONS. The laparoscopic approach is a safe and effective alternative to laparotomy in the management of patients with Y-chromosome-bearing gonadal dysgenesis and with androgen insensitivity syndrome.- - - - - - - - - - ranking = 7keywords = androgen (Clic here for more details about this article) |
10/12. monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism.BACKGROUND: Bone marrow monosomy 7 is an uncommon disorder of the pluripotent stem cells that leads to frequent childhood infections and leukemia. Primary adrenal hypoplasia occurs very rarely and is incompatible with life. male pseudohermaphroditism results from inadequate androgen secretion or inappropriate androgen action. We report a case of monosomy 7, adrenal hypoplasia, and male pseudohermaphroditism. CASE: An infant was born with sexual ambiguity and bilateral inguinal masses. Bone marrow karyotype was 45, XY,-7. serum testosterone level was low normal. The infant died on the fourth day of life. autopsy revealed severely hypoplastic adrenal glands, inguinal testes, and a vaginal pouch. CONCLUSION: monosomy 7 and male sexual ambiguity are reported in association with primary adrenal hypoplasia of the cytomegalic (X-linked) type.- - - - - - - - - - ranking = 2keywords = androgen (Clic here for more details about this article) |
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