1/12. Isodicentric y chromosome in an Ullrich-Turner patient without virilization.We report on a 17-year-old young woman with Ullrich-turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y-derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism).- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/12. 46,XX pure gonadal dysgenesis with growth hormone deficiency and impaired 3 beta-hydroxysteroid dehydrogenase activity.patients with 46,XX pure gonadal dysgenesis generally are of normal stature and have less than usual amounts of pubic and axillary hair. We report on a patient who presented at age 11.9 years with short stature, absence of breast development, and excessive pubic hair. Her karyotype in leukocytes, fibroblasts, and streak gonad was 46,XX. The patient was diagnosed as having growth hormone deficiency. Elevated ACTH stimulated levels of 17-hydroxypregnenolone and dehydroepiandrosterone and elevated ACTH stimulated ratio of 17-hydroxypregnenolone to 17-hydroxyprogesterone suggested inadequate adrenal 3 beta-hydroxysteroid dehydrogenase activity. Treatment with growth hormone resulted in improvement in growth velocity and replacement with estrogen in feminization. We suggest that the finding of short stature in patients with 46,XX pure gonadal dysgenesis should not be attributed to the syndrome, but rather requires investigation for possible growth hormone deficiency. The poor growth of our patient prior to growth hormone replacement implies that dehydroepiandrosterone, unlike testosterone and estrogen, is ineffective in promoting linear growth in the absence of adequate growth hormone.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/12. Laparoscopic gonadectomy in a case of a dicentric fluorescent Y-chromosome mosaicism with Turner-like phenotype and virilized external genitalia.In few cases of turner syndrome the karyotype reveals the presence of an additional Y-bearing cell line, which is referred to as a borderline case of mixed gonadal dysgenesis. We report a 20-year-old woman with primary amenorrhea, virilization and a few Turner stigmata, who revealed rare mosaicism of 45,X/46,X dic (Y; 5)(q12; q11), 5/46,X, der (Y), which was detected by conventional G-banding and multicolor spectral karyotyping. She underwent laparoscopic gonadectomy in which mixed gonadal dysgenesis was found and both gonads were removed. No evidence of gonadoblastoma was noted on the gonads. Virilization improved postoperatively. We recommend gonadectomy via laparoscope in women presenting with Turner-like phenotype, virilization and the presence of a y chromosome. This report describes the role of cytogenetic and molecular genetic investigations in the definition of mosaicism in turner syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/12. 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 = karyotype (Clic here for more details about this article) |
5/12. 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 = 1keywords = karyotype (Clic here for more details about this article) |
6/12. Prenatal treatment of congenital adrenal hyperplasia: report of a new case.A mother at risk for 21-hydroxylase deficiency was treated with oral dexamethasone (0.5 mg 12 hourly) from early pregnancy, in an attempt to prevent in utero virilization in case of a female fetus. Fetal karyotype was 46,XX, and because of a possible intra HLA recombination, treatment was continued to term. The newborn had a modest virilization and hormonal studies confirmed the diagnosis of congenital adrenal hyperplasia (CAH). This observation and review of the literature suggest that efficient prenatal treatment of CAH requires a higher and more frequent dosage of dexamethasone.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/12. A patient with pure gonadal dysgenesis, gonadal tumour and virilisation.A phenotypic female, karyotype XY presented with virilisation and amenorrhoea. The gonads showed evidence of oestrogen and testosterone production and, in view of the risk of malignancy, a laparotomy was performed. A streak gonad was present on one side with a streak gonad containing discrete tumours on the other. The uterus and fallopian tubes were present. Removal of the gonads and uterus and subsequent oestrogen replacement therapy have produced a satisfactory clinical result.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/12. Malignant stromal tumour of the ovary with virilizing effects in an XXX female with streak ovaries. Clinical and pathological studies.In gonadal dysgenesis, the presence of the Y sex chromosome appears to have a strong influence on the development of germ cell tumours. The risk of malignancy associated with other sex chromosomal abnormalities is much lower. In the present report, the clinical manifestations--including primary amenorrhoea, tall stature, infertility and poor development of the genitalia and breasts--associated with a predominantly 47, XXX karyotype are described. Malignant change of the streak ovary to an unusual gonadal stromal tumour with lipid-containing cells occurred at a late stage in her life, and this was associated with progressive virilization and production of androgenic and oestrogenic steroids. In view of the risk of malignancy as well as the abnormal endocrine effects, especially in the presence of a y chromosome, there is a place for the prophylactic removal of these dysgenetic gonads.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/12. A virilizing hilus-cell tumour in an African patient with Turner's syndrome.A 26-year-old African female presented with primary amenorrhoea and genital abnormalities. She had the physical stigmata of Turner's syndrome and a 45, X karyotype. Severe masculinization of the external genitalia, apparently present from birth, was present and a laparotomy revealed a hilus-cell tumour of the right streak gonad. Clitoridectomy and vaginoplasty were performed but subsequent oestrogen therapy failed to produce breast development.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/12. prenatal diagnosis of congenital adrenal hyperplasia.In patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, the concentrations of the cortisol precursor 17-alpha hydroxyprogesterone (17-OHP) and its metabolite delta 4-androstenedione (delta 4 A) are increased. CAH was diagnosed in twins by measurement of 17-OHP and delta 4 A concentrations in amniotic fluid obtained by amniocentesis from both amniotic cavities at 17 weeks' gestation. Both prenatal karyotypes were 46,XX. Spontaneous labor and delivery of 2 nonviable fetuses with genital masculinization occurred at 26 weeks' gestation. It is concluded that delta 4 A measurement, like 17-OHP quantitation, is valuable in the prenatal diagnosis of CAH; that both methods appear useful in prediction of CAH in twin fetuses; and that abnormal adrenal-mediated masculinization in female CAH is well established before the end of the second trimester.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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