[Clinical aspects and the differential diagnosis of some congenital defects of sexual development in the female phenotype].
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The Müllerian ducts are composed of an epithelium and surrounding mesenchyme that have the potential to differentiate into female reproductive organs, including the oviducts, uterus and upper vagina. In eutherian mammals, Müllerian inhibiting substance/anti-Müllerian hormone (MIS/AMH) secreted by the fetal testis causes the regression of the Müllerian ducts to prevent the differentiation of female reproductive organs in males. MIS signalling in the Müllerian duct is mediated by the MIS type II receptor (MISRII) that is expressed in the mesenchyme surrounding the epithelium. MIS signalling alters the Müllerian duct mesenchyme, leading to the elimination of the ductal epithelium. Loss of MIS signalling, by mutation of MIS or MISRII, leads to the differentiation of female reproductive organs in males that can cause cryptorchidism and infertility. We have exploited the mouse MisrII locus to express heterologous genes in the cellular target of MIS signalling, the Müllerian duct mesenchyme. This approach can be used with conditional genetic strategies to identify factors that are required for the regression of the female genital duct system.
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Basal levels of secretion of total testosterone, estradiol-17 beta, their free, albumin-binding and sex steroid-binding globulin (SSBG)--binding fractions, luteinizing hormone, follicle-stimulating hormone, prolactin and somatotropic hormone were measured in blood serum in the following groups of adolescents: (1) healthy, (2) suffering primary osteogenic sarcoma of the bone, (3) osteogenic sarcoma patients with pubertal retardation, and (4) pubertal retardation. A significant increase in total testosterone fraction, free androgen index and a decrease in blood SSBG level were established in osteogenic sarcoma patients as compared to corresponding controls, irrespective of pubertal status. No difference in the above indexes for estrogens was established between osteogenic sarcoma patients and controls in both pubertal status subgroups. The role of sex steroid hormones, particularly, androgens in the pathogenesis of osteogenic sarcoma is discussed.
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The aim of the study was the evaluation of physical and pubertal development of children from the families deported from Abkhazia who were exposed to significant psycho-somatic stress and prolonged socio-economical infringement. Dynamic observation started in 1998. Children, 9-15 years of age, have been studied. 200 children have been selected by the individualised methods (115 were girls and 85 were boys). In parallel children of appropriate age and gender groups from the local families have been studied. The investigations were conducted according to the generally accepted schemes and tables suggested by Tenner (17), for girls and by V.M. Vedenski (8) for boys, respectively. The analysis of obtained results showed that the total percent of delayed puberty in studying group was 21.4% versus 30.0% in the groups of 1998. Consequently, index of delay in control group was equal to 3.9% (2005) and 5.0% (1998). The group, exceeding the norms of puberty (accelerates) was 4.8% versus 11.2% in control group in comparison with the data of 1998--5.4% versus 15.0%, respectively. It should be concluded that due to the obtained results, comparing with the analogic groups of 1998, the number of delayed puberty has been reduced by approximately 9.0%. The number of cases exceeding the norms of puberty has been decreased slightly.
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Cholesterol and triglyceride Serum concentrations were studied in 152 normal adolescents (53 males and 99 females) at an adolescent's health center at Valparaíso, Chile. Total cholesterol serum levels ranged from 120 mg/dl (10th percentile) throughout 220 mg.dl (90th percentile) and 20.4% of values for blood cholesterol were above 200 mg/dl. Triglyceride serum concentrations ranged from 57 mg/dl (10th percentile) throughout 161 mg/dl (90th percentile) and 11.9% of samples triglyceride levels above 150 mg/dl. There was only a slight tendency of association between breast stages 4 and 5 according to Tanner and high cholesterol serum levels. There were positive relationships between cholesterol serum levels and body mass index (p < 0.001) and also with family history of coronary heart disease (p < 0.02).
RIA tests to determine the blood levels of gonadotropins, prolactin and different fractions of androgens have shown that the time course of the endogenous level of gonadotropins and androgens in boys aged 9 to 16 with Il-III degree of obesity without clinical signs of disturbed puberty is of the same type as that in healthy boys. However much lower concentrations of testosterone and FSH with a high level of LH and dehydroepiandrosterone were noted in the former. A single administration of chorionic gonadotropin has shown that in normal puberty first develops a mechanism of rapid excretion of testosterone into blood with its maximum concentration in 24-48 h, followed by the development of a mechanism of long-term activation of androgenesis at later stages of puberty. Obese boys with delayed puberty after the type of adiposogenital dystrophy or the syndrome of wrong puberty, demonstrate a more marked blood level of testosterone and FSH than in normal puberty. The clinical level of delayed puberty is determined by the peculiarities of the hypothalamohypophyseal system: the syndrome of wrong puberty is characterized by a sharp rise of adrenal androgenesis leading to premature pubarche, a decrease in the sensitivity of gonads to LH with a simultaneous rise of its blood concentration. Moderate activation of androgenesis in the adrenal glands was observed in false adiposogenital dystrophy, the prepubertal level of LH secretion being preserved.
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The experience with the treatment of more than 5140 children at the age of from 2 days to 16 years, and 76 patients at the age of from 15 to 42 years with different diseases of the genital organs and disorders in the sex formation is presented. The indications for surgical treatment are defined. The results of the masculinizing operations, including the phalloplasty and testicular endoprosthesis, and the feminizing ones, including the vaginoplasty with the use of a colonic segment are presented.
Concordant/discordant associations at chromatid level were compared and found significant (P less than 0.05) in females with primary amenorrhea. This probably suggested that the acrocentric association pattern in this group of ASD and infertility did not follow a random segregation in subsequent cell divisions and that the concordant acrocentric chromosomes have regularly established physical connections with one another, held together for several cell cycles. It could only be speculated that the association of acrocentric chromosome anomalies in some females with abnormal sex chromosomes are due to this reason. In the event that chromosome association has a bearing on chromosome aberrations, the non-random pattern of acrocentric association probably would increase the choice for translocation and non disjunction in the somatic cells in females with primary amenorrhea during ontogenesis.