Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the Mullerian structures are absent or rudimentary. It is also associated with anomalies of the genitourinary and skeletal systems. Its association with gonadal dysgenesis is extremely rare and appears to be fortuitous, independent of chromosomal anomalies. We report such a case in a 21-year-old girl who presented prima...

In hybrid dysgenesis, sterility can occur in both males and females. At 27.5 degrees, however, we found that P element-induced germline death was restricted to females. This sex-specific gonadal dysgenesis (GD) is complete by the first larval instar stage. As such, GD at 27.5 degrees reveals the sexually dimorphic character of the embryonic germline. The only other known dimorphic trait of the ...

The latitudinal cline in P-M gonadal dysgenesis potential in eastern Australia has been shown to comprise three regions which are, from north to south respectively, P, Q, and M, with the P-to-Q and Q-to-M transitions occurring over relatively short distances. The P element complements of 30 lines from different regions of the cline were determined by molecular techniques. The total amount of P ...

The anatomy of the first vertebra, namely atlas, has significant clinical implications. Atlas is situated between occipital bone and second cervical vertebra (axis) one main points head movement. Most congenital anomalies are diagnosed incidentally during imaging investigations can be associated with spine anomalies. neurological symptoms may include weakness in four limbs, acute neurologic def...

Deletion of the distal short arm of chromosome 9 (9p) has been reported in a number of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this region contains one or more genes required in two copies for normal testis development. Recent studies have greatly narrowed the interval containing this putative autosomal testis-determining gene(s) to the distal portion...

OBJECTIVE The aim of this study was to evaluate the presence of mutations in the coding region of the QM gene and fragile X in patients with premature ovarian failure and gonadal dysgenesis. METHODS After approval by the local Ethics Committee, blood samples, in EDTA, of 100 normally ovulating women, 23 with premature ovarian failure (POF) and 14 with gonadal dysgenesis 46XX, aged less than 4...

Turner Syndrome is one of the most common chromosomal aneuploidy seen in humans with an incidence of about 1: 2500 newborn females. Approximately 60% patients with Turner syndrome have 45, X karyotype while others show X chromosome abnormalities like deletions of long arm or short arm, isochromosome or ring chromosome. About 6-9% cases also show presence of Y chromosome or Y derived sequences. ...