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 due to n...

PURPOSE To determine whether there is a correlation among mutations in the cytochrome P450 1B1 gene (CYP1B1), the degree of angle dysgenesis observed histologically, and disease severity in congenital glaucoma. METHODS Direct DNA sequencing was utilized to screen six unrelated children with congenital glaucoma, each set of parents, and all siblings for CYP1B1 mutations. Specimens of the anter...

purpose: to report a case of enophthalmos secondary to complete globe dislocation into the maxillary sinus due to orbital fracture. patient and findings: an 18-year-old man was referred to labafinejad hospital, one week after a car accident. at initial examination, the globe was not seen within the right orbit. a large floor fracture and globe luxation into the right maxillary sinus were confir...

Anterior segment dysgenesis syndrome is an inherited ocular defect in Rocky Mountain Horses. The disease is Mendelian with semidominant inheritance. Heterozygous animals have ciliary cysts, and homozygous animals have complex anterior segment dysgenesis. Authors’ address: Depts. of Large Animal Clinical Sciences (Ewart) and Small Animal Clinical Sciences (Ramsey), D202 Veterinary Medical Center...

Comment. The first report of unilateral RPE dysgenesis was published in 2002. In this report, 3 young men and 1 woman aged 16 to 34 years were noted to have a round leopard-spot lesion contiguous with the optic nerve. In 2009, the typical characteristics of unilateral RPE dysgenesis were described in a set of 9 affected patients, 6 males and 3 females aged 14 to 42 years. The margin of the lesi...

In a classic example of the invasion of a species by a selfish genetic element, the P-element was horizontally transferred from a distantly related species into Drosophila melanogaster. Despite causing 'hybrid dysgenesis', a syndrome of abnormal phenotypes that include sterility, the P-element spread globally in the course of a few decades in D. melanogaster. Until recently, its sister species,...

Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965). The term 'XY gonadal dysgenesis' refers to patients with pure gonadal dy...

Deletion of the distal segment of 9p causes a syndrome comprising trigonocephaly, minor anomalies, and intellectual disability. Patients with this condition also frequently present with genitourinary abnormalities including cryptorchidism, hypospadias, ambiguous genitalia, or 46,XY testicular dysgenesis. The region responsible for the gonadal dysgenesis has been localized to 9p24.3 with the lik...

Hashimoto's thyroiditis has previously been associated with gonadal dysgenesis. Recent evidence suggests that Graves's disease and Hashimoto's thyroiditis are disorders of cell-mediated immunity and may have a common genetic predisposition. However, patients with both Graves's disease and the Turner syndrome have been reported only rarely. Three such cases are presented and the relation among g...

Disorders of sex development (DSD), previously referred to as intersex disorders, comprise a variety of congenital diseases with anomalies of the sex chromosome, the gonads, the reproductive ducts and the genitalia. DSD is loosely classified into four groups on the basis of histological features of the gonadal tissue: XX-DSD with two ovaries (female pseudohermaphroditism), XY-DSD with two testi...