The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p ca...

RIEGER'S dysgenesis mesodermalis iridis et corneae, caused by a faulty differentiation in the anterior segment, is not limited to the mesodermal structures of the eye, but demonstrates a range of ectodermal anomalies as well. This is why Hagedoorn (1937) suggested the term "dysgenesis mesostromalis", stressing the frequent occurrence of ectodermal developmental anomalies of the iris and lens, c...

46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years. Her history and familial history involved no relevant conditions. She had Tanner stage 1 thelarche, and Tanner stage 2 pubic hair development with no axillary hair development...

Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies. Case Report. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. No chromosome Y was ...

A 13 year-old boy crashed into a car while riding his bicycle and his right face and orbit were traumatized, then immediately globe extruded completely, his outward appearance was terrible when he was hospitalized, and the vision was NLP. Optic nerve, muscles, and all vessels and nerves were in severe stretching and the globe was at risk of ischemia and necrosis. I.V. corticosteroid, antibiotic...

Introduction: Congenial hypothyroidism due to thyroid dysgenesis is usually regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%). Herein, we describe a case report of unusually large family of 10 siblings, out of which five were affected with congenital hypothyroidism, which is supposed to be the world’s largest series of familial congeni...

Inbred lines derived from a strain called Sexi were analyzed for their abilities to repress P element-mediated gonadal dysgenesis. One line had high repression ability, four had intermediate ability and two had very low ability. The four intermediate lines also exhibited considerable within-line variation for this trait; furthermore, in at least two cases, this variation could not be attributed...

Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological ph...

Two manifestations of hybrid dysgenesis were studied in flies with chromosomes derived from two different P strains. In one set of experiments, the occurrence of recessive X-linked lethal mutations in the germ cells of dysgenic males was monitored. In the other, the behavior of an X-linked P-element insertion mutation, snw, was studied in dysgenic males and also in dysgenic females. The chromos...

In plants and mammals, small RNAs indirectly mediate epigenetic inheritance by specifying cytosine methylation. We found that small RNAs themselves serve as vectors for epigenetic information. Crosses between Drosophila strains that differ in the presence of a particular transposon can produce sterile progeny, a phenomenon called hybrid dysgenesis. This phenotype manifests itself only if the tr...