Mexico shows a high birth prevalence of congenital hypothyroidism (CH) due to thyroid dysgenesis (TD). PAX8 defects underlie only 1% these cases and NKX2-1 does not seem be involved. Here, we analyzed other TD-related genes in 128 non-related Mexican patients (females 77.3%; 6 months 16.6 years) with non-syndromic CH-TD diagnosis established by clinical evaluation, hormone serum profiling, scin...

Cerebral dysgenesis encompasses varied disorders of brain development. Based on the understanding of these conditions provided by histopathologists, embryologists, radiologists and developmental pediatricians, surgeons are able to appropriately assist in the care of these patients. The surgeon can offer assessment of the ventriculomegaly that commonly accompanies cerebral dysgenesis in addition...

BACKGROUND Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis and partial gonadal dysgenesis. CASE PRESENTATION Dysgerminoma developed in 3 phenotypic female patients with 46 XY pure gonadal dysgenesis. All patients presented first with abdominopelvic mass. Laparatom...

The wings and abdomens of dysgenic and nondysgenic control flies were scored for the presence of clones of cells mutant for first and third chromosome markers. These exceptional clones can arise from mitotic recombination, de novo mutation or deletion, and P-M hybrid dysgenesis has been shown to increase the frequency of parallel processes occurring in germ-line cells. Particular attention was ...

abstract chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. although x-autosome translocations are frequently associated with streak gonads and clinical features of the turner syndrome, the majority of x-autosome carriers may present with a variable phenotype, developmental delay, and recognizable x-linked syndrome...

background: disorders of sex development (dsds) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,xy ...

OBJECTIVE In Iran thyroid-stimulating hormone (TSH) based neonatal screening program is included in health care services from 2005 for detection of patients with primary congenital hypothyroidism (CH). This study was performed for a critical evaluation of the screening program primary congenital hypothyroidism in Fars province, Iran. METHODS From November 2006 to September 2007, TSH serum con...