We describe five patients with 46,XY gonadal dysgenesis who developed gonadoblastomas, dysgerminomas, a mature teratoma, and a testicular intraepithelial neoplasia. The age of the patients was between 12.2 and 18.5 years. The external genitalia were normal female in two cases, in three they were intersexual. Four of our patients presented with slight retardation of puberty followed by stagnation. Most importantly the development of the breast (Tanner stage 2-4) did not correspond with pubic hair stage (Tanner stage 4). The patients can be classified as virilized phenotypical females. Serum testosterone was detectable in three, estradiol in two patients. None of the gonadoblastomas showed immunoreactivity with antibodies against steroid hormone receptors and against testosterone and estradiol, respectively. Probably the immature cells are able to produce steroid hormones. Only steroid-like cells with Leydig cell appearance showed positive cytoplasmatic immunostaining for testosterone in three patients. The findings in our patients underline that dysgenetic gonads must be removed as early as possible to prevent development of malignant tumors.
Patients with dysgenetic gonads carry a high risk for the development of gonadal neoplasia. The aim of the study is to evaluate indications and feasibility of laparoscopy and video-assisted prophylactic gonadectomy in children with Ullrich Turner syndrome (UTS) or 46,XY gonadal dysgenesis (GoDy). Between 1996 and December 2002 five girls with UTS and nine patients with 46,XY GoDy (female gender role) were explored by laparoscopy. Video-assisted salpingo-oophorectomy or gonadectomy was performed using a three-port technique. Prophylactic salpingo-oophorectomy was exclusively performed in UTS patients with proven presence of translocated parts of the Y chromosome. In three patients with 46,XY GoDy laparoscopy was followed by surgical revision of the groin and open gonadectomy in four patients. In two cases with UTS the removed streak gonads contained small unilateral tumours stage pT1a, and in four cases of 46, XY GoDy histopathological investigation revealed bilateral neoplasms stage pT1b. We found the following tumour types: gonadoblastoma, dysgerminoma, testicular intraepithelial neoplasia, and mature teratoma. In conclusion, investigative laparoscopy gives a good image of the internal genital structures and allows the safe removal of the dysgenetic gonads during the same operation. The high rate of gonadal tumours underlines the indication for early gonadectomy in these patients.
To identify patients who had Ullrich-Turner syndrome (UTS) and were at risk for gonadoblastoma or associated germ cell tumors, molecular genetic analysis was carried out to detect Y chromosomal sequences. From peripheral blood samples of 5 patients who had cytogenetically confirmed UTS, genomic DNA was extracted and screened for Y chromosomal sequences by polymerase chain reaction. The morphology of the gonadal tissues was compared with results from polymerase chain reaction. Three phenotypic females showed UTS mosaicism with normal X chromosome accompanied by Y chromosomal material, and 2 patients showed marker chromosomes. Molecular analysis represented loci PABY, SRY, ZFY, TSPY, DYZ3, DYZ1 DXYS, 19Y, DYS-273, DYS-148, DYS218, DYS224, and DYZ1. Three patients showed gonadal tumors (1 with unilateral gonadoblastoma, 1 with unilateral dysgerminoma, and 1 patient had both tumors in 1 gonad). Molecular genetic screening for Y chromosomal sequences may be useful as an additional tool for the identification of patients at risk for a gonadal tumor. Careful, complete processing, including step sectioning, of the gonadectomy specimens to detect small lesions is recommended.
0.94, 95% CI, 0.81-1.08) or AD use (OR 1.07, 95% CI,. When these exposures were included together in the same model, depression remained unassociated with breast cancer risk (OR 0.87, 95% CI, 0.74-1.03) while AD use exhibited a small, borderline significant increase in risk (OR 1.15, 95% CI,). The latter association remained consistent for selective serotonin reuptake inhibitors (SSRIs; OR 1.16, 95% CI, 0.96-1.39) but was not apparent for other classes of ADs (OR 1.07, 95% CI, 0.85-1.35). Conclusions: These initial results indicate that depression is not associated with breast cancer risk, while we could not exclude a slight increase in risk associated with SSRI use. Further analyses will update exposure information over follow-up and also evaluate whether associations differ by menopausal status or hormone receptor disease subtypes. Clarifying the effects of these exposures on breast cancer risk will provide critical information for the millions of women who are depressed and/or use ADs. Adolescent Endogenous Sex Hormones and Breast Density in Early AdulthoodJung S, Egleston LB, Chandler DW, Horn LV, Hylton MN, Paris K, Klifa CC, Lasser NL, Le Blanc ES, Shepherd JA, Snetselaar LG, Stanczyk FZ, Stevens VJ, Dorgan JF During adolescence the breasts undergo rapid growth and development under the influence of sex hormones. Although the hormonal etiology of breast cancer is hypothesized, it remains unknown whether adolescent sex hormones are associated with adult breast density, which is a strong risk factor for breast cancer. METHODS: Percentage of dense breast volume (%DBV) was measured in 2006 by magnetic resonance imaging in 177 women aged 25-29 years who participated in the Dietary Intervention Study in Children from 1988-1997 and had sex hormones and sex hormone binding globulin (SHBG) measured in serum collected on 1-4 occasions between 8 and 17 years of age. Multivariable linear mixed-effect regression models were used to evaluate the associations of adolescent sex hormones and SHBG with %DBV. RESULTS: Dehydroepiandrosterone sulfate (DHEAS) and SHBG measured in premenarche serum samples were significantly positively associated with %DBV (all Ptrend 0.03) but not when measured in postmenarche samples (all Ptrend ! 0.42). The multivariable geometric mean of %DBV across quartiles of premenarcheal DHEAS and SHBG increased from 16.7% to 22.1% and from 14.1% to 24.3%, respectively. Estrogens, progesterone, androstenedione, and testosterone were not associated with %DBV pre-or post-menarche (all Ptrend ! 0.16). CONCLU-SIONS: Our results suggest that higher DHEAS and SHBG levels during adolescence, particularly before the onset of menarche, are associated with higher%DBV in young women. Whether this association translates into an increased risk of breast cancer later in life is currently unknown. E-cigarette and Traditional Cigarette Use Among Smokers During Hospitalization and 6 Months LaterHarrington KF, Cheong J, Hendricks S, Kohler C, Bailey WC Use of electronic nicotine delivery systems, most commonly called e...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.