نتایج جستجو برای: gonadal dysgenesis
تعداد نتایج: 17758 فیلتر نتایج به سال:
Genetically susceptible cells in culture can be transformed by oncogenic viruses. Quantitative assay methods have been developed for estimating the frequency of transformation. In an attempt to estimate the susceptibility to transformation of cells from cancer patients with XY-gonadal dysgenesis, fibroblasts from two such patients were infected with simian papovavirus 40, and transformation fre...
17-hydroxylase/17,20-lyase deficiency (17-OHD), a rare autosomal recessive defect in adrenal and gonadal steroidogenesis, causes absence of secondary sexual characteristics and frequently associated with hypertension and hypokalemia. Here, we report a 46,XY case who had normal potassium levels and no hypertension. Our patient was a 2.5-year-old female admitted with female external genitalia and...
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testic...
BACKGROUND Steroidogenic factor 1 (SF-1, NR5A1) is a key transcriptional regulator of many genes involved in the hypothalamic-pituitary-gonadal axis and mutations in NR5A1 can result in 46,XY disorders of sex development (DSD). Patients with this condition typically present with ambiguous genitalia, partial gonadal dysgenesis, and absent/rudimentary Müllerian structures. In these cases, testost...
Disorders of sex development (DSD) include congenital conditions where developments of chromosomal, gonadal or anatomical sex are atypical. Ostrer in 2000, reported a prevalence of 1:20 000 for 46 XY DSD and complete gonadal dysgenesis. A 21-year-old patient consulted for sexual ambiguity at the out-patient department of the Philippine general hospital. At birth, the perceived female external g...
A case of mixed gonadal dysgenesis with anaplastic seminoma is herein reported. A 38-years-old man was admitted to our hospital with the chief complaint of a painful mass, 19.0 cm in long diameter in his lower abdomen. At 11, 13 and 14 years old he had the history of treatment for an ambiguous external genitalia and defect of both scrotal contents. In the concrete, laparotomy, chordectomy and u...
Abstract Background Much interest has not been placed on the role of chromosomal abnormalities in pathogenesis and rising prevalence infertility recent times. This review was conducted to renew public basis infertility, testing, management. Main text Meiotic post-zygotic mitotic errors may cause infertility-predisposing abnormalities, including Klinefelter syndrome, Jacob Triple X Turner Down s...
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 ...
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