In order to study P element dynamics in natural populations of Drosophila melanogaster, 88 isofemale lines were examined from the Firtina Valley, Turkey. The P-M gonadal dysgenesis characteristics and the molecular patterns of P and KP elements were analyzed. Gonadal dysgenesis tests showed a slight variation both for P activity and P susceptibility, however the results showed a predominant M' ...

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. ...

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...

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,...

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly of female genital tract where there hypoplasia uterus and upper two- thirds vagina. Patients with MRHK present normal development secondary sexual characteristics due to ovarian function. We report 2 cases who presented absent ovaries confirmed on imaging. Both our MRKH had short stature underdeveloped characteristics. It ex...

Steroidogenic factor 1 (SF1, officially NR5A1) is a nuclear receptor involved in adrenal and gonadal development. NR5A1 mutations have been identified in patients with various forms of 46,XY disorders of sex development (DSD), including complete gonadal dysgenesis with or without adrenal insufficiency, mild testicular dysgenesis with ambiguous external genitalia or female external genitalia wit...

Individual P elements that were genetically isolated from wild-type strains were tested for their abilities to repress two aspects of hybrid dysgenesis: gonadal dysgenesis and mutability of a double-P element-insertion allele of the singed locus (snw). These elements were also characterized by Southern blotting, polymerase chain reaction amplification and DNA sequencing. Three of the elements w...

Gonadoblastoma and dysgerminoma developed in a 24-year-old phenotypic female patient with 46,XY pure gonadal dysgenesis. This patient presented with primary amenorrhea. Clinical characteristics showed a typical stigmata of gonadal dysgenesis: primary amenorrhea, sexual infantilism, a small uterus and bilateral streak gonads. A 46,XY karyotype was made by lymphocyte culture. The patient was coun...

It is well known that several chromosomal syndromes as well as chromosomal instability syndromes are cancer prone. A thorough cytogenetic study (in certain cancer prone syndrome) that may bring out any associated factors if any in the transformation of precancerous status to cancerous status making use of both chromosomal aberrations (CA) analysis and cytokinesis block micronucleus cytome assay...