Ction in the second german family positioned the gene outside the previously identified region, proximal to marker dxs274. We report here the molecular characterization of an xp21. 1p22. 12 duplication present in a patient affected with dosage-sensitive sex reversal (dss) and kfsd. The duplicated region includes both the dax1 gene (previously demonstrated to be responsible for dss) and the kfsd interval, in which the gene encoding spermidine/spermine n(1)-acetyltransferase ( ssat) is located. This enzyme catalyzes the n(1)-acetylation of spermidine and spermine and, by the successive activity of polyamine oxidase, the spermine can be converted to spermidine and the spermidine to putrescine. Overexpression of the ssat enzyme in a mouse model results in putrescine accumulation and a phenotype with skin and hair abnormalities reminiscent of human kfsd. Analysis of polyamine metabolism in the cells of the patient indicated that the levels of metabolites such as putrescine, spermidine and spermine were consistent with the overexpression of the ssat gene as in the murine model. Thus, we propose that overexpression of ssat and the consequent putrescine accumulation are involved in the kfsd phenotype, at least in our propositus. - - - - - - - - - - ranking = 0. 5keywords = age(clic here for more details about this article) 8/76. Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism.     background: dysgenetic male pseudohermaphroditism (dmp) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent mullerian structures, and cryptorchidism in individuals with a 46,xy karyotype. However, the histologic criteria for the diagnosis of dmp are poorly established. Objective: to determine gonadal histology in children with dmp. prescription-free viagra viagra without prescription usa generic prescription viagra viagra prescription generic viagra without a prescription buy viagra online without prescription cheap viagra without prescription cheap viagra without prescription usa buy viagra without prescription viagra online no prior prescription Patients and methods: between 1996 and 1998, 13 patients with dmp were evaluated on our service. The clinical diagnosis of dmp was based on a 46,xy karyotype, sex ambiguity, high levels of follicle-stimulating hormone and low levels of antimullerian hormone, a decreased testosterone response to human chorionic gonadotropin stimulation without accumulation of testosterone precursors, and the presence of mullerian structures. Molecular sequencing the hmgbox region of the sry gene did not reveal any mutations. Biopsies were performed for 22 of 26 gonads (patient age at the time of biopsy, 16 months to 10 years). Conventi.

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