1/13. Laparoscopic surgery for gonadal dysgenesis in children.Three pediatric phenotypic females presented with gonadal dysgenesis. Their gonads were removed laparoscopically. These phenotypically normal females, who do not have any intersex problems or ambiguous genitalia, represent a unique group of patients having a y chromosome or a fragment of it in their genetic constitutions. We performed laparoscopic adnexectomy with Endoloop ligatures or an ultrasonically activated scalpel. No significant complication occurred in any of the cases. Pathologic examination revealed gonadoblastoma in one of the gonads of one patient. We propose that laparoscopic surgery is a safe and minimally invasive procedure for prophylactic gonadectomy to prevent neoplasia, even when performed on pediatric patients.- - - - - - - - - - ranking = 1keywords = sex, chromosome (Clic here for more details about this article) |
2/13. trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the x chromosome.The turner syndrome (TS) is a complex disorder associated with almost invariant short stature and gonadal dysgenesis, as well as a variety of other major organ malformations. Recently, a homeobox-containing gene entitled short-stature homeobox-containing gene (SHOX), was isolated from a minimal short stature gene interval from the pseudoautosomal region of Xp (and Yp). Together with the demonstrable escape of SHOX from X-inactivation, this suggested SHOX to be a strong candidate gene for the short stature component of TS, and as SHOX haploinsufficiency appears to be the molecular basis of a mesomelic short statured skeletal dysplasia (Leri-Weill syndrome), this suggested that SHOX protein expression levels may confer a dosage effect on human stature. However, in this communication we report a normal statured female with gonadal dysgenesis, due to the inheritance of a recombinant duplication-deletion X-chromosome. The karyotype of the proband was 46,X,rec(X)dup(Xp)inv(X)(p11.22q21.2)mat and fluorescent in situ hybridization of her metaphases with a SHOX cosmid confirmed the proband to be trisomic for SHOX. This communication suggests the relationship between levels of SHOX expression and human stature to be more complex than envisaged previously. The presence of normal stature in our patient rather than tall stature is likely to represent the natural variation seen in patients with transcription factor disorders.- - - - - - - - - - ranking = 1.5607895073599keywords = chromosome (Clic here for more details about this article) |
3/13. A comparative genomic hybridization study in a 46,XX male.OBJECTIVE: To identify y chromosome material in an azoospermic male with an XX karyotype.DESIGN: Case report. SETTING: faculty of medicine and Centro de Patologia Celular (CPC) medical center. PATIENT(S): A 33-year-old man with infertility. INTERVENTION(S): G-banding, fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR), and comparative genomic hybridization (CGH). MAIN OUTCOME MEASURE(S): FISH for X and Y chromosomes, PCR for the SRYgene and amelogenin gene in the Xp (AMGX) and (AMGY), and losses or gains with CGH. RESULT(S): FISH analysis using X and y chromosome-specific probes showed an x chromosome containing y chromosome sequences on the top of the short arm; this Y chromosome region was not visible by conventional cytogenetic analysis. PCR amplification of dna showed the presence of the sex-determining region of the y chromosome (SRY) and the amelogenin gene in the pseudoautosomal boundary of the x chromosome (AMGX). CGH confirmed the presence of the chromosome region Yp11.2-pter and detected the presence of the two otherwise normal X chromosomes. CONCLUSION(S): The two Xpter (XPAR1) pseudoautosomal regions present in this XX male suggest the need to reevaluate XX males using CGH and PCR to characterize the clinical variability in XX males due to genes other than those located on the y chromosome.- - - - - - - - - - ranking = 4.1215790147199keywords = sex, chromosome (Clic here for more details about this article) |
4/13. SRY-positive 46,XX male with cryptorchidism as the only presenting clinical feature.The SRY gene, located on the short arm of the y chromosome, is responsible for differentiation of the testis from the undifferentiated gonad. We report a 4-year-old patient with male phenotype and female karyotype (46,XX) with cryptorchidism as the only presenting clinical abnormality. Fluorescent in situ hybridization analysis, using Y- and X-specific (whole chromosome painting WCP Y WCP X) dna and SRY probes, detected a small y chromosome fragment, including the SRY gene, transferred to the short arm of the x chromosome.- - - - - - - - - - ranking = 1.248631605888keywords = chromosome (Clic here for more details about this article) |
5/13. Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: case report.We investigated the aetiology of the male phenotype in a premature infant derived from ICSI with a 46,XX karyotype. A karyotypically normal couple underwent ICSI because of obstructive azoospermia in the male partner. Sperm were retrieved by testicular sperm extraction (TESE), cryopreserved, and later used for ICSI. The pregnancy after ICSI ended at 20 weeks. A normal-appearing male was delivered but he did not survive. umbilical cord blood and placenta were sampled and used for molecular and cytogenetic investigation. The 46,XX karyotype from G-banding in this male infant correlated to a balanced female comparative genomic hybridization (CGH) profile in placental tissue. No PCR amplification of SRY on the p arm of the y chromosome was observed while fluorescence in-situ hybridization (FISH) with the SRY probe also could not detect the gene in cord blood or placental tissues. CGH and FISH, with X and Y centromeric probes, failed to detect mosaicism in the trophoblast, stroma and amnion. Skewed X-chromosome inactivation (81%) was found in the chorionic villi. The molecular and cytogenetic studies indicated a 46,XX male infant without the SRY gene or 46,XX/XY mosaicism. The possible mechanism in this SRY-negative XX male by ICSI is discussed.- - - - - - - - - - ranking = 0.62431580294398keywords = chromosome (Clic here for more details about this article) |
6/13. Analysis of SRY gene in 8 cases of sex abnormality.In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.- - - - - - - - - - ranking = 7.1905788867521keywords = sex, chromosome (Clic here for more details about this article) |
7/13. A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype.OBJECTIVE: To report a rare case of gonadal agenesis with rudimentary paramesonephric ducts derivatives in a female with a 46,XX normal karyotype. DESIGN: Case study. SETTING: National Institute of health. PATIENT(S): An 18-year-old female with primary amenorrhea and lack of secondary sexual development. INTERVENTION(S): Clinical, gynecological, endocrine, and genetic evaluation. Laboratory studies conducted included measurement of pituitary, ovary, and thyroid hormones; analyses of G-banded chromosomes in peripheral blood and fibroblast cultures; search for genomic Y-chromosome dna by fluorescence in situ hybridization and molecular biology techniques; X-ray, ultrasonography, echocardiographic and laparoscopic studies for the assessment of bone age, and genitourinary and other associated malformations. MAIN OUTCOME MEASURE(S): Clinical, hormonal, anatomical, and genetic characteristics of the patient. RESULT(S): The studies performed confirmed a prepubertal female with hypergonadotrophic hypogonadism, bilateral gonadal agenesis, a rudimentary uterus and fallopian tubes, a normal vagina, kidney, and urinary tract structures, and a 46,XX normal karyotype. The search for centromeric Y-chromosome dna and SRY and ZFY genes was negative. CONCLUSION(S): A primary deficiency confined to the gonadal blastema and the nearby coelomic epithelium is proposed as an alternative embryologic mechanism to explain the occurrence of this singular sexual developmental defect.- - - - - - - - - - ranking = 2.312157901472keywords = sex, chromosome (Clic here for more details about this article) |
8/13. A 46,XX SRY-negative man with complete virilization and infertility as the main anomaly.OBJECTIVE: To report a case of a 46,XX SRY-negative man with a male phenotype and azoospermia. DESIGN: Case report. SETTING: Molecular and Cytogenetic Unit in a University Hospital. PATIENT(S): A 35-year-old man with complete masculinization who referred to our institution because of a history of several years of infertility. INTERVENTION(S): Lymphocytic karyotype and genetic counseling. MAIN OUTCOME MEASURE(S): Peripheral blood metaphases were analyzed by standard G-banding and Q-banding. Fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) analyses were performed. RESULT(S): semen analysis showed azoospermia. Chromosome analysis revealed a 46,XX karyotype; molecular and cytogenetic analyses excluded the presence of SRY (the sex-determining region of the y chromosome) gene. CONCLUSION(S): This case is one of the rare patients reported in the literature in whom testicular differentiation and a complete virilization in a 46,XX chromosomal constitution does not account for a translocation of the SRY gene to the x chromosome or to the autosomes. This finding suggests that other genes downstream from SRY, not yet identified, play an important role in sex determination.- - - - - - - - - - ranking = 2keywords = sex, chromosome (Clic here for more details about this article) |
9/13. 46,XX patients with congenital adrenal hyperplasia: initial assignment as male, reassigned female.Six 46,XX patients with congenital adrenal hyperplasia (CAH) presented with genital ambiguity, five so severe that initial gender assignment was male. Once diagnosis was realized, parents were involved in evaluation and chose sex re-assignment as female. To date, these girls and their parents all indicate satisfaction with their decision for a female sex of rearing. The girls have a female gender identity with behavior characteristics known for females with CAH. Thus, while outcome is satisfactory, it is realized that for most, expression of sexual orientation and adult life adjustments have not yet occurred.- - - - - - - - - - ranking = 2.063526295584keywords = sex (Clic here for more details about this article) |
10/13. Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis.BACKGROUND: XX males range phenotypically from completely masculinised individuals to true hermaphrodites and include a subset of SRY negative patients. The correlation between genotype (SRY /-) and phenotype is still unclear. AIM: To report three new patients with this rare condition, one of whom was diagnosed prenatally and another was SRY negative, and to verify in our patients whether the presence of SRY results in a more masculinised phenotype. patients AND methods: We present two phenotypically normal XX male patients (10 and 13.5 years) and one 3.1 years old XX male with ambiguous external male genitalia Prader IV. The patients were diagnosed by clinical, hormonal, sonographic, genetic and histological criteria. RESULTS: Basal hormonal status was normal for phenotype but an excessive response to GnRH testing was noticed in the second patient together with insufficient hCG stimulation in all three patients. Pelvic ultrasound displayed male structures without mullerian ducts; testicular biopsy, performed only in the intersex patient, showed Sertoli and Leydig cell hypoplasia. Chromosome analysis confirmed 46,XX karyotype. FISH analysis and molecular analysis by PCR were positive for Yp fragments/SRY gene on Xp in two patients and negative in the patient with ambiguous external genitalia. CONCLUSIONS: In our observation y chromosome-specific material containing the SRY gene translocated to the x chromosome results in a completely masculinised phenotype. In the intersex patient, incomplete masculinisation without SRY suggests a mutation of one or more downstream non-Y testis-determining genes.- - - - - - - - - - ranking = 2keywords = sex, chromosome (Clic here for more details about this article) |
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