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Effect of SRY、T、MIS on Diagnosis of Male Pseudohermaphroditism and Detection of Gene Mutation in Androgen Receptor

Author: PengDaZhen
Tutor: LuGenSheng
School: Third Military Medical University
Course: Surgery
Keywords: Androgen receptor Androgen insensitivity syndrome The full androgen receptor insensitivity syndrome Pseudohermaphroditism SRY gene Mullerian inhibiting substance Androgen
CLC: R691.1
Type: Master's thesis
Year: 2010
Downloads: 59
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Abstract


Background: hermaphroditism is a rare disease, genitourinary system in recent years with the clinical diagnosis technology continues to progress, people's treatment enhanced awareness of hermaphroditism with patient diagnosis rate continuously improve hermaphroditism been important. Nevertheless, hermaphroditism because of its complex etiology, classification and confusion to the clinical diagnosis and treatment of the greater difficulty. Especially male pseudohermaphroditism clinical diagnosis and treatment of the more difficult issues of urologists. Male pseudohermaphroditism according to the cause can be roughly divided into: 1, the gonadotropin sexual hypofunction; 2, testosterone synthesis obstacles; androgen receptor insensitivity syndrome; 4,5-a reductase deficiency; 5 seedlings Mullerian tube perpetuating syndrome; 6, gonadal dysgenesis; 7,46 XY feminization syndrome, and subdivided more diverse. Due to the limited knowledge of the disease, clear clinical diagnosis is difficult, and the diagnosis is not clear and also led to the treatment of blindness. Currently, early diagnosis, of integrated early treatment for some types of male pseudohermaphroditism patients have better treatment effect. It can not only alleviate the pain caused by the economic burden of the patient and the surgical trauma, more importantly, is able to avoid patients with the greatest degree of psychological deformity. The complexity of the male reproductive system and the development of secondary sexual characteristics. Human original undifferentiated gonad has the dual potential of the gonads, SRY gene is sex-determining gene on the short arm of the male Y chromosome, and its expression induced primitive undifferentiated gonad to testis development, male sexual development of the initial factor. Studies have shown that the gender of the decision is not determined by the SRY gene single factor, absolute sense for testicular been questioned by the detection of the SRY gene and explore its role in the clinical diagnosis. Testicular development in addition to by many upstream factors, but also by the multiple roles of the various factors testicular secretion. Two main cell testicular Leydig cells, Sertoli cells secrete testosterone (T testosterone) and Mullerian inhibiting factor (MIS). The testosterone the basic reaction testicular function state, but it can not be completely masculine process induced individuals, can not guarantee the full development of the male reproductive tract and secondary sex characteristics. Mullerian inhibiting factor (MIS), the physiological role of more and more attention, its main role is to suppress vice in the development of renal tubular fallopian tubes, uterus and upper vagina, MIS dysfunction will also lead to the generation of hermaphroditism. We intend testicular sensitivity by detecting the SRY gene, MIS, T in male pseudohermaphroditism serum in expression, to explore their role in male pseudohermaphroditism diagnosis and correlation, the deformity clear clinical male pseudohermaphroditism diagnosis to provide more evidence. The androgen insensitivity syndrome (AIS) is the male pseudohermaphroditism more common type, receptor defects varying degrees of clinical manifestations vary widely, divided into complete androgen insensitivity syndrome (CAIS) and not complete androgen insensitivity syndrome (IAIS). AIS is X-linked recessive genetic disease, is decided in the androgen receptor gene mutations located on the X chromosome, causing the androgen receptor in androgen target cell membrane defects caused by androgen insensitivity. AIS etiology has made some progress, and found some possible causative mutation, but its exact pathogenesis is not yet very clear, we intend to suffering of a complete androgen insensitivity syndrome pedigree male the detection of the androgen receptor gene, clearly the the pathogenic mutant gene may exist, to provide valuable information for the diagnosis at the molecular level. Objective: To identify the SRY gene, MIS, T three indicators in male pseudohermaphroditism diagnosis and its relevance, provide the basis for clinical diagnosis. A complete androgen insensitivity syndrome pedigrees for the detection of the androgen receptor gene, a clear pathogenic mutations in the gene may exist. Methods: male pseudohermaphroditism and no reproductive system lesions fasting blood split the two. Tube 1: procoagulant: After centrifugation, the supernatant (serum) placed in the EP tube and stored at -20 degrees the DUT MIS and T. Tube 2: EDTA anticoagulant: Extraction of genomic DNA. The test subjects karyotype extract subjects DNA using PCR technology on all specimens SRY gene detection. Two groups of specimens using a double antibody sandwich enzyme-linked immunosorbent assay (ELISA) detection of T and MIS values, statistical analysis of the results, explore the SRY gene, T and MIS significance in male pseudohermaphroditism diagnosis and related sex. DNA, extracted two brothers suffering from complete androgen insensitivity syndrome gene sequencing technology analysis of the androgen receptor gene, and to compare and analyze. Results: 1. Diseased group MIS levels compared with the control group significantly increased, the difference is significant (P lt; 0.05) was statistically significant. The sick group T level higher than the control group, but there was no significant difference (P gt; 0.05), not statistically significant. 3 diseased group in SRY () 6 Example of SRY seven cases of the control group (-) patients; SRY are (). All subjects Jieyou testicles. The SRY gene sensitivity for the diagnosis of testicular presence of 92.8% (13/14). Detected two brothers suffering from complete androgen insensitivity syndrome AR gene exon 8 2615 base G → C substitution occurs, leading to the amino acids encoded missense mutation arginine R mutation the of the threonine T (Arg872Thr). Conclusion: 1.MIS in male pseudohermaphroditism diagnostic, the more important sense, when patients with high level of MIS, mostly male pseudohermaphroditism; T, although its diagnostic significance, but for its parting significance, but also as a detection indicators for assessment of patient outcomes. 2 SRY gene in male pseudohermaphroditism diagnosis for testicular existence sensitivity 92.8%, can not be the only indicator of whether or not as a judge of the presence of testicular, its combination with the MIS can improve the diagnostic accuracy. We found a new point mutation: the androgen receptor (AR) gene exon 8 2615 bp G → C substitution occurs, leading to the amino acids encoded missense mutation arginine R mutation the of the threonine T (Arg872Thr). This mutation may be a pathogenic factors leading to complete androgen insensitivity syndrome.

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CLC: > Medicine, health > Surgery > Urology ( urinary and reproductive system diseases) > Of common diseases > Genitourinary anomalies ( malformation )
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