Complete androgen insensitivity syndrome or testicular feminization is the most common form of male pseudohermaphrodism, caused by a failure receptor binding. Patient with genotype 46 XY, has female morphotype well developed external sexual organs. We report case two young patients aged 23 and 21 TF discovered during exploration primary amenorrhea. A bilateral orchiectomy was performed institut...

Androgen insensitivity syndrome is a rare disease, manifested as normal female external phenotype to infertile male with 46 XY karyotype due to different level of resistance of androgen receptor. Androgen insensitivy syndrome is classified as complete, partial and mild androgen insensitivity. Partial androgen insensitivity syndrome is further subclassified according to morphogenesis as predomin...

Cytogenetic and molecular genetic analysis in a case of sex-discordant dizygotic twins revealed blood chimerism in the girl (46,XY in blood and 47,XX, + 21 in fibroblasts) caused by feto-fetal transfusion from her healthy brother. The girl presented with Down syndrome, aplasia of the uterus and the Fallopian tubes and normal female external genitalia. We propose that the lack of Müllerian struc...

Objective: To investigate antenatal detection the chromosome abnormalities in high risk pregnancies and correlation between karyotype analysis and FISH (Fluorescent In Situ Hybridization). Method: Were analyzed cytogenetic results from a total of 594 cases between 2008-2009. Amniotic fluid karyotyping and FISH have been offered to pregnant women with genetic risk, using the standard method and ...

The proband was evaluated at 19 years of age because of primary amenorrhoea and, on chromosomal analysis, was found to have a 46,XY karyotype in 75% of her cells and 48,XY, +8, +21 in 25% of her cells. She appeared normal at birth and exhibited normal intellectual and physical development until puberty when secondary sexual differentiation failed. This young women showed none of the dysmorphic ...

Frasier syndrome is characterized by slowly progressive nephropathy, male pseudohermaphroditism, streak gonad, and high risk of gonadoblastoma development. Here we report a case of a 46,XY phenotypic female with Frasier syndrome, who was under hemodialysis. While her serum estradiol level was gradually increasing annually, gonadotropin level was constantly extremely high, and her appearance was...

A rare form of the 46,XY disorders of sex development (DSD), 5a-reductase deficiency was first described in patients with pseudovaginal perineoscrotal hypospadias, microphallus, and cryptorchid testes in 1974 by Imperato. This undervirilization in the male is due to an alteration in the 5a-reductase type 2 gene (SRD5A2), which encodes for 5areductase activity. Our registry of 750 patients with ...

A landscape is rugged if it has many local optima, if it gives rise to short adaptive walks, and if it exhibits a rapidly decreasing pair-correlation function (and hence if it has a short correlation length). The \correlation length conjecture" allows to estimate the number of meta-stable states from the correlation length, provided the landscape is \typical". Isotropy, originally introduced as...

We present clinical findings and molecular characterization in two patients previously diagnosed as 46,XY female gonadal dysgenesis with germ cell tumour. Both patients showed a female general phenotype with unambiguously female external genitalia and primary amenorrhoea compatible with complete androgen insensitivity syndrome. The first patient, at the age of 31 years, developed a dysgerminoma...