An ectopic thyroid is a form of thyroid dysgenesis in which an entire or parts of the thyroid gland may be located in another part of the body than what is the usual place. The most frequent location is the base of tongue. Although most cases are asymptomatic, symptoms related to tumor size and its relationship with surrounding tissues, hormonal dysfunction and seldom malignancy may also occur....

A two-year-and-eight-month-old girl presented with clitoromegaly and short stature. Two cell lines, 45,X and 46,X,idic(Y)(q11.2), were observed. Cytogenetic and fluorescence in situ hybridisation investigations were carried out on her peripheral lymphocytes and gonadal cells, to determine the genotype-phenotype effect with respect to differential tissue distribution, effects of the sex determin...

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...

One of the important findings of human cytogenetics has been the role of the Y chromosome in testicular differentiation of the bipotential embryonic gonad, but a puzzle has been posed by reports of individuals with a testis but with no apparent Y chromosome. This paper describes a patient with mixed gonadal dysgenesis (testis and streak), interpreted as having a Y/D translocation in some cells,...

the main disorder are due to sex chromosomal aberration comprising 2644(82.5%), cases ranging from 1211  klinefelter followed by 1025 turner  syndrome, 345 triple x, 49 double y and 14 cases of xx male. the second group consists 116 cases of gonadal dysgenesis bearing 0.042 risk of malignant transformation for xy gonadal dysgenesis. the 3rd group is hormonal defects consisting 29 cases of conge...

normal sex differentiation is the result of long ways and different steps that consecutively take place under the control of relevant enzymes resulting in a normal female or male. any effective agent and excess or deficit of the relevant enzymes result in the disorder of sex development. the main factors that affect sex development include chromosomal aberration, gonadal dysgenesis, and hormona...

Mobile P elements in Drosophila melanogaster cause hybrid dysgenesis if their mobility is not repressed. One type of repression, termed P cytotype, is a complex interaction between chromosomes carrying P elements and cytoplasm and is transmitted through the cytoplasm only of females. Another type of repression is found in worldwide M' strains that contain approximately 30 copies per individual ...

The description of Frasier syndrome until now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significant risk of gonadoblastoma. Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause Frasier syndrome and are distinct from WT1 exon mutations associated with Denys-Drash syndrome. The WT1 gene, which is ...

The use of laparoscopic technique to diagnose and treat intersex children is gradually introduced in clinical urology. From 1985 to 1996, abdominal exploration and gonadectomy were performed in 11 intersex children together with urogenital endoscopy and genitoplastic surgery in our institutes. Their median age was 6.0 (range 0-15) years old and initial gender sex was female in 8 and male in 3. ...

Reticular dysgenesis is a rare inherited immunodeficiency characterized by the lack of blood monocytes and neutrophils and low lymphocyte counts, contrasting with normal red blood cell counts and normal or decreased platelet counts. Whether dendritic cells or macrophages, both of which derive primarily from blood monocytes, are affected in this condition remains unknown. We studied 7 patients w...