Gonadoblastoma is a rare gonadal tumour consisting of a mixture of germ cells and sex cord stromal derivatives resembling immature granulosa and Sertoli cells. It usually arises in various types of gonadal dysgenesis containing Y chromosome like pure or mixed gonadal dysgenesis. Occurrence in phenotypically and chromosomally normal women is very rare. We report here a case of gonadoblastoma wit...

Background: Microphthalmia is defined as a globe with a total length that is at least two standard deviations below the mean for age. It can be isolated or occur with other anomalies or as part of a syndrome. Objective: The aim of our work was to evaluate any functional or structural abnormality along the whole visual system in microphthalmic eyes. Patient and Methods: The study included 70 eye...

Abstract Background Y-type urethral duplication is a term frequently used to describe rare condition in the male associated with double urinary stream: weak interrupted stream through hypoplastic penile urethra, while main urine flow anus/perineum via accessory posterior channel. Fortunately, advent of MRI has provided powerful tool study these anomalies depth and on multiple planes. The includ...

perrault's syndrome (p.s.) is rare. the combination of gonadal dysgenesis and hearing loss was accompanied by 46,xxkaryotype in three sisters with parental consanguineous marriage. genetic investigation revealed normal female karyotype, positive liarr and negative fluorescence ipj-bodies, which was confirmed by molecular study on the basis of fluorescence in situ hybridization (pish), with appl...

Swyer syndrome is one of the disorders sexual differentiation. Previous studies have demonstrated increased sympathetic activity with heart rate variability (HRV) analysis decreasing estradiol levels. One patient presented a pure 46, XY gonadal dysgenesis female phenotype. Cardiac autonomic modulation was assessed through HRV while at rest. This research analyzed linear and nonlinear indexes. s...

Gene-environment interactions are implicated in congenital human disorders. Accordingly, there is a pressing need to develop animal models of human disease, which are the product of defined gene-environment interactions. Previously, our laboratory demonstrated that gestational salt stress of bradykinin B(2) receptor (B(2)R)-null mice induces renal dysgenesis and early death of the offspring. In...

A syndrome of associated aberrant traits is described in Drosophila melanogaster. Six of these traits, mutation, sterility, male recombination, transmission ratio distortion, chromosomal aberrations and local increases in female recombination, have previously been reported. A seventh trait, nondisjunction, is described for the first time. All of the traits we have examined are found nonreciproc...

Background Desert hedgehog (DHH) mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or complete gonadal dysgenesis. Gonadal tumours and peripheral neuropathy have been associated with DHH mutations. Herein we report a novel, homozygous mutation of DHH identified through a targeted, massively parallel ...

The genetic determination of the control of resistance or susceptibility to germ line changes mediated by P elements was studied in two strains and in derivatives of crosses between them. One strain, characterized as true M, completely lacked P elements. The second strain, pseudo-M (M'), carried a number of P elements, but these did not have the potential to induce the gonadal sterility that is...