CONTEXT Disorders of sex development (DSDs) may arise from genetic defects in testis or ovary determination. Current analytical technologies and improved understanding of major regulatory pathways have cast new insight into the genetic basis for these disorders. EVIDENCE ACQUISITION A PubMed search was performed for the years 2011-13 using the terms "disorder of sex development," "gonadal dys...

We have reported a kindred in which 46,XY gonadal dysgenesis was inherited in an X-linked (or autosomal dominant sex-limited) manner and in which affected subjects did not have a large duplication of the short arm of the X-chromosome. In the present study we used linkage and sequence analyses to test the role of X-linked and various autosomal genes in the etiology of the familial 46,XY partial ...

The Wilms' tumor gene WT1 plays a key role in genitourinary development and subsequent normal function. Homozygous mutations of WT1 can be found in approximately 15% of Wilms' tumors. Furthermore, somatic heterozygous loss of WT1 is known to lead to cryptorchidism and hypospadias in males. A much more severe phenotype is seen in patients with Denys-Drash syndrome which results from heterozygous...

A 15-year-old girl was investigated because of ambiguous genitalia. Her chromosome studies showed a 45, X/45, Xdic(Yq) mosaicism. The identity of the dicentric Y chromosome was demonstrated by its typical fluorescent banding patterns. Histological evidence of mixed gonadal dysgenesis with intragonadal tumour was observed, confirming the occurrence of gonadoblastoma associated with mosaicism in ...

Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical development various internal external genital anatomy. Because of frequent disorder higher risk germ cell neoplasia, management these patients complex requires multidisciplinary approach.Case: We present mixed patient diagnosed with gonadoblas...

turner syndrome is a sex-chromosome disorder occurring in one out of 2500 female births and characterized by growth retardation, gonadal dysgenesis and cardiovascular anomalies. the 45, xo karyotype is the most frequent type of this disease. herein, we report on a 6-year-old girl with turner syndrome and 45, xo karyotype presenting with short stature. she had dextrocardia and hiatal hernia. to ...

In 14 cases of the Turner syndrome and pure gonadal dysgenesis streak gonads were studied histologically. In cases where the 46,XX line was unimpaired the blood vessels of the gonad showed severe degeneration in at least 30 to 50%. These streak gonads usually contained some of the characteristic ovarian elements as well as the vascular lesions. In gonosomal monosomy, on the other hand, a simila...