PURPOSE To determine whether the MR findings of callosal dysgenesis suggest that the partially formed corpus callosum in humans is the result of arrested growth or delayed continued development. METHODS The MR scans of 25 patients with callosal dysgenesis were reviewed to determine whether the observed corpus callosum corresponded to the form and position of a portion of a normal corpus callo...

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 ...

CONTEXT Within the last two decades, heterozygous loss-of-function PAX8 mutations have been reported in patients with a wide degree of thyroid gland dysfunction and growth despite the presence of identical mutations. OBJECTIVES To search for PAX8 mutations in a cohort of patients with congenital hypothyroidism (CH) and various types of thyroid gland defects. DESIGN A cross-sectional study w...

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...