Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in two 46,XY female patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may...

Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. We have previously noted that some cases of 46,XY gonadal dysgenesis carry a 9p deletion and exhibit behavioural problems consistent with autistic spectrum disorder. These cases had a small terminal deletion of 9p with limited or no somat...

Purpose The purpose of this study was to comparatively evaluate angle dysgenesis in vivo, among congenital, juvenile, and adult-onset open angle glaucoma patients. Methods A cross-sectional evaluation of 96 glaucoma patients, 22 children with primary congenital glaucoma (PCG) old enough to cooperate for optical coherence tomography (OCT), 34 juvenile-onset open angle glaucoma (JOAG) patients,...

Congenital hypothyroidism affects about 1:3000-1:4000 infants. Screening programs now permit early recognition and treatment, thus avoiding the disastrous consequences of thyroid hormone deficiency on brain development. In about 85%, congenital hypothyroidism is associated with developmental defects referred to as thyroid dysgenesis. They include thyroid (hemi)agenesis, ectopic tissue and thyro...

Hybrid dysgenesis in Drosophila is a syndrome of gonadal atrophy, sterility, and male recombination, and it occurs in the progeny of crosses between males that harbor certain transposable elements (TEs) and females that lack them. Known examples of hybrid dysgenesis in Drosophila melanogaster result from mobilization of individual families of TEs, such as the P element, the I element, or hobo. ...

During human embryogenesis, neural crest cells migrate to the anterior chamber of the eye and then differentiate into the inner layers of the cornea, the iridocorneal angle, and the anterior portion of the iris. When proper development does not occur, this causes iridocorneal angle dysgenesis and intraocular pressure (IOP) elevation, which ultimately results in developmental glaucoma. Here, we ...

OBJECTIVES The objectives of this study were to delineate the etiologic profile and neurodevelopmental outcome of neonatal seizures in the current era of neonatal intensive care and to identify predictors of neurodevelopmental outcome in survivors. METHODS Eighty-nine term infants with clinical neonatal seizures underwent neurologic examination, electroencephalography (EEG), neuroimaging, and...

In patients with idiopathic generalized epilepsy (IGE), visual inspection of routine MRI is normal. However, pathological studies have shown microdysgenesis in grey and white matter in a large percentage of autopsies from cases of IGE. Recently, widespread structural changes not evident on visual inspection of high resolution MRI have been shown using quantitative MRI in patients with apparentl...

A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the ...

Strains of Drosophila melanogaster bearing the male recombination factor 23.5 MRF induce hybrid dysgenesis in a way which is highly reminiscent of the P-M system, and, most probably, causally related to the activity of the transposable element hobo. We have investigated potential interactions between the two systems of hybrid dysgenesis by studying mixed lines derived from bidirectional crosses...