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• W72685887 abstract "markdownabstract__Abstract__This thesis elaborates the stepwise diagnostic procedure in DSD patients using a multidiscipline approach to obtain the diagnosis of these patients which includes clinical assessment, hormonal, genetic, and pathological investigations, so that it is beneficial as the background for decisions on the required therapy. Most of the patients in this research had a 46,XY karyotype where Androgen Action Disorder was found to affect the majority of the cases. In the majority of the 46,XX DSD cases, CAH required immediate comprehensive treatment because its nature often leads to a life threatening situation.In a developing country such as Indonesia, it is rare to have a complete diagnostic procedure where a molecular evaluation is needed for DSD confirmation. A health care center providing molecular analyses as its service is considered very rare, if not nonexistent. Such luxury is limited to a research center in a capital town. Early diagnosis and integrated treatment is vital for DSD patients, in order to obtain the proper outcome in terms of medical, psychological and social aspects.A stepwise practical diagnostic approach in a large cohort of DSD patients in Indonesia led to a genetically or histologically proven final diagnosis in 27 % of the patients. The most helpful parameters were serum levels of 17-hydroxyprogesterone and androstenedione in 46,XX DSD patients and LH, FSH and basal testosterone levels in 46,XY DSD patients. The long-term effects of 21-hydroxylase deficiency on phenotype in 15 patients with ages between 1 and 33 years who had not been treated for prolonged periods were studied to assess the correlation between genotype and phenotype. Results suggest that a correlation does exist between the concentration of androgens and the extent of virilization. Saliva of 24 CAH patients who received glucocorticoid replacement therapy was studied. The question was whether determination of salivary androstenedione and 17-hydroxyprogesteronein CAH patients would be a useful alternative to the measurement of these hormones in serum. The results suggest that this is indeed the case.A detailed gonadal histology study was undertaken on 16 Indonesian DSD patients using morphological studies and immunohistochemistry. The precursor lesions gonadoblastoma, carcinoma in situ, or GCC were diagnosed in four cases. A hormone producing ovarian Leydig cell tumor was identified in a 46,XX patient.In spite of the significantly lower risk of GCC in the general Asian population, DSD is a dominant risk factor." @default.
• W72685887 created "2016-06-24" @default.
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• W72685887 date "2014-01-15" @default.
• W72685887 modified "2023-09-23" @default.
• W72685887 title "Disorders of Sex Development in Indonesia: Natural course and the implications of a stepwise multidisciplinary approach" @default.
• W72685887 hasPublicationYear "2014" @default.
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