1/11. Autoimmune hemolytic anemia in a patient with autosomal dominant chronic mucocutaneous candidiasis.Chronic mucocutaneous candidiasis is a heterogeneous immunodeficiency syndrome characterized by recurrent candidal infections of the skin, nails, and mucous membranes. The syndrome can be associated with autoimmune conditions, especially endocrine disorders. Typically, inheritance is autosomal recessive, and abnormal T-cell-mediated immunity is thought to be the underlying deficit. We describe a 27-year-old man with chronic mucocutaneous candidiasis inherited in an autosomal dominant fashion, in whom both lymphocyte blastogenesis and delayed-type skin reactivity to candida antigens were normal. Notable features of the case include autoimmune hemolytic anemia, probable hypoparathyroidism, and hypogonadal hypogonadism.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/11. Hypogonadotrophism fails to prevent severe testicular damage induced by total body irradiation in a patient with beta-thalassaemia major and acute lymphoblastic leukaemia.radiation and chemotherapeutic drugs for cancer produce prolonged and often irreversible gonadal damage. To determine whether total body irradiation (TBI)-induced gonadal damage can be prevented by suppression of pituitary gonadotrophin levels, we studied a patient with transfusion dependent homozygous beta-thalassaemia and acute lymphoblastic leukaemia (ALL) who underwent one-antigen mismatched related bone marrow transplantation (BMT). Our data showed that despite having hypogonadotrophic hypogonadism (HH) prior to BMT, the patient developed primary testicular failure following the procedure, indicating that hypogonadotrophism failed to offer protection against TBI-induced testicular damage in this patient. Although this is an interesting case report, no firm conclusions can be drawn from a single patient.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
3/11. osteoporosis with underlying connective tissue disease: an unusual case.A 44-year-old male was initially seen by dermatologists, who noted an erythematous rash on sun-exposed areas, the back, shoulders, and upper arms. There was associated muscle weakness and significant weight loss. Investigation revealed mildly raised aspartate and alanine transaminases but normal creatine kinase. Inflammatory indices and antinuclear antibodies (ANAs) were normal. biopsy of the rash was reported as consistent with either dermatomyositis (DM) or acute lupus erythematosus. A diagnosis of DM was made, and prednisolone was given with improvement of the rash but deteriorating myopathy. The patient was referred to the rheumatology department, and further history revealed multiple vertebral fractures after falling from standing height; these had occurred six months prior to starting steroids. Besides smoking he had no other risk factors for osteoporosis. Examination showed normal muscle strength, no muscle tenderness, and no joint abnormality. Repeat muscle enzymes were normal, and ANAs were now 1 : 100, but dsDNA antibodies and extractable nuclear antigens were normal. Investigations for osteoporosis revealed a hypergonadotrophic hypogonadism picture. Further examination indicated scanty pubic and auxiliary hair, small testicles, and mild gynecomastia. He is married, though has no children of his own. The hormonal profile raised the possibility of Klinefelter's syndrome, which was subsequently confirmed with karyotyping of 47 XXY. hypogonadism has been established as a cause of osteoporosis in males, and in this case would explain the occurrence of fractures in the absence of other major risk factors. Systemic lupus erythematosus has been recognized in association with Klinefelter's syndrome; in view of the normal muscle enzymes, his rash is most likely due to acute discoid lupus with androgen deficiency causing muscle weakness.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
4/11. "Hook effect" in prolactinomas: case report and review of literature.OBJECTIVE: To present a case of the "hook effect" occurring in the prolactin immunoassay in a patient with giant prolactinoma and to review this phenomenon. methods: We describe the clinical, biochemical, radiologic, and pathologic data of a patient with a giant prolactinoma, in which dilution testing of serum prolactin levels confirmed the presence of the hook effect. We discuss the historical and mechanistic aspects of the hook effect and then review its occurrence with the prolactin assay. RESULTS: A 65-year-old man sought medical attention because of headaches, personality changes, and "bulging" eyes. Cranial magnetic resonance imaging disclosed a 10-cm-diameter, lobulated, heterogeneous, locally invasive mass in the anterior skull base and cranial fossa. Initial laboratory testing showed a prolactin level of 164.5 ng/mL (normal range, 1.6 to 18.8). The pathology specimen from his surgical debulking procedure was consistent with prolactinoma. Retesting of the original serum prolactin sample with serial dilutions revealed a prolactin level of 26,000 ng/mL. A postoperative diluted prolactin level was 22,000 ng/mL. Both prolactin samples demonstrated the hook effect. dopamine agonist therapy was initiated, and the prolactin level and size of the tumor decreased substantially. The hook effect most commonly occurs when excess antigen (for example, prolactin) is present during testing. Dilution testing can counteract this assay phenomenon. CONCLUSION: Clinicians should be aware of this laboratory phenomenon when evaluating large pituitary or parasellar masses. When the hook effect is suspected, dilution testing of prolactin samples may prevent incorrect diagnosis and unnecessary surgical intervention in patients with prolactinomas.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
5/11. Polyglandular autoimmune syndrome type III accompanied by common variable immunodeficiency.We identified polyglandular autoimmune (PGA) syndrome type III in a 24-year-old nurse with common variable immunodeficiency (CVID). An immune-mediated disorder, membranoproliferative glomerulonephritis, was diagnosed when she was 15 years old. Clinical examination and laboratory findings revealed a PGA syndrome due to the presence of hypergonadotropic hypogonadism, insufficient growth hormone response and thyroid autoimmunity. The patient had neither adrenal disease nor hypoparathyroidism. Therefore we concluded that this patient has PGA syndrome type III. This is an interesting case, because we could not find any previous report of such coexistence between PGA type III and CVID in a medline search. Coexistence of these two entities may be a result of autoimmunity and the association of both conditions with human leukocyte antigen.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
6/11. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned dna sequences from the distal short arm of the x chromosome.We report a large Italian pedigree in which five out of six males are affected by a syndrome, following an X-linked inheritance pattern, characterized by ichthyosis, hypogonadotropic hypogonadism, and anosmia. The concurrence of features of X-linked ichthyosis (XLI) with those of kallmann syndrome, another disease often inherited as an X-linked trait, prompted us to perform biochemical, cytogenetic, and molecular studies in relation to the short arm of the x chromosome (Xp). Steroid sulphatase (STS) activity was found to be completely deficient in all affected members of the family. prometaphase chromosome analyses of two obligate heterozygous women and one affected male showed normal karyotypes. Xg blood group antigen analysis and molecular studies employing cloned dna sequences from the distal segment of the Xp (probes RC8, 782, dic56, and M1A), did not provide evidence for deletions or rearrangements of the x chromosome. The linkage analysis showed no crossovers between the disease, Xg, and DXS143, the locus defined by probe dic56, thus suggesting the possibility of a linkage between these two markers of the distal segment of Xp and the X-linked ichthyosis, hypogonadism, and anosmia syndrome.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
7/11. The polyglandular deficiency syndrome: a new variant in Persian jews.Five Persian jews were detected with the polyglandular deficiency syndrome (PDS). Primary hypoparathyroidism and hypogonadism were present in each, adrenal insufficiency in two, and insulin-dependent diabetes mellitus and latent hypothyroidism in single subjects. The percentage of T and B cells, and the mononuclear cell response to phytohemagglutinin and concanavalin a were normal in all five. IgG and IgA levels and the OKT4 /OKT8 cell ratio were low in one subject. Antinuclear and antithyroid antibodies were present in one subject. HLA-DR5 was present in 4/4, HLA-24 and B5 (B51) in 3/4 subjects. A single case of isolated hypoparathyroidism (IHP) was detected among 12 first degree relatives. hla antigens B8, DR3, were absent in all of these subjects. Seven non-Iranian jews with IHP were also examined. HLA A26 or A25 were present in all seven. Persian jews appear to have a unique variant of PDS.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
8/11. 46XX male; report of case.Chromosomal studies on a prepubertal 7-year-old boy with a normal male phenotype except for undescended testes showed a 46XX normal female karyotype. An h-y antigen assay done at the same time on peripheral blood was positive in a titer similar to that of normal male subjects. Although the microscopic findings for both testes were normal, hypergonadotropic hypogonadism was suggested from both LH-RH and hCG stimulation tests.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
9/11. h-y antigen: localization of the H-Y gene.Testicular development in a patient with deletion of the distal (fluorescent) segment of the y chromosome is described. The presence of a normal dose of h-y antigen was demonstrated by Goldberg's cytotoxicity test. It is concluded that the distal fluorescent segment of the y chromosome is void of genes regulating h-y antigen activity.- - - - - - - - - - ranking = 6keywords = antigen (Clic here for more details about this article) |
10/11. X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism.Cytogenetic studies on a 17-year-old phenotypic male, with short stature and clinical and hormonal features of hypogonadism similar to those of an XX male, revealed an X;Y translocation, karyotype, 46,Xt(X;Y)(p22;?p11?q11). He was h-y antigen positive. X inactivation studies showed inactivation of the abnormal X in the majority of cells (60 to 70%) and inactivation of the normal X in the remaining cells. Gene marker studies, including Xg blood grouping, showed no anomalous segregation. This patient is the second reported male showing a positively identified X;Y tanslocation with no detectable free y chromosome and provides further indirect evidence for an X-Y interchange in the aetiology of XX male sex reversal.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
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