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Topic: Gonadal dysgenesis mixed

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Gonadal dysgenesis Turner type

Gonadal dysgenesis mixed

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Gonadal dysgenesis, XY female type

Gonadal dysgenesis, XX type

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	Mixed Gonadal Dysgenesis with Structural Anomalies of the Y Chromosome: 14(3): Letter
		The present case was diagnosed as mixed gonadal dysgenesis because of the presence of unilateral testis, a contralateral streak gonad and gonosomal mosaicism with both XO and XY cell lines.
		We reported3 a two-year, six-month-old Arab female with mixed gonadal dysgenesis.4 She showed ambiguous external genitalia, right intra-abdominal testis, left streak gonad, bilateral müllerian derivatives, gonosomal mosaicism with multiple cell lines including structural aberrations of the Y chromosome in 36% of cells.
		Mixed gonadal dysgenesis cases with structural anomalies of the Y chromosomes have been reported.3,5 These include del Y (q21), ring-Y dic(Y) and isochromosome for short arm (p) or long arm (q).
	www.kfshrc.edu.sa /annals/143/1435.html (826 words)

	EURORAD (Site not responding. Last check: 2007-08-23)
		Mixed gonadal dysgenesis (MGD) is an intersex disorder.
		If gonads are detected in the pelvis of either karyotype or in the external genitalia of a female karyotype, they should be removed, as they are associated with an increased incidence of tumors, such as seminoma, dysgerminoma, gonadoblastoma, teratocarcinoma, and yolk sac tumors.
		In summary, mixed gonadal dysgenesis is an intersex state characterized by chromosomal mosaicism and the concomitant presence of a testis and a contralateral streak gonad.
	www.eurorad.org /eurorad/case.php?id=2629 (1139 words)

	Cecil Textbook of Medicine : />
		Testicular dysgenesis is characterized by seminiferous tubule degeneration and invasion by connective tissue arranged in whorls as in a streak gonad.
		Mixed gonadal dysgenesis, a frequent cause of sexual ambiguity, is characterized by the presence of a testis on one side and a fibrous streak on the other.
		Patients with pure gonadal dysgenesis have a normal female phenotype, including uterus and fallopian tubes, but have fibrous streaks instead of gonads; they are free of Turner-like malformations and attain normal height.
	www.merckmedicus.com /ppdocs/us/common/cecils/chapters/246_007.htm (880 words)

	eMedicine - Gonadoblastoma : Article Excerpt by: Joseph L Lasky III, MD
		The 2 essential findings that predispose these abnormal gonads to undergo neoplastic transformation into gonadoblastoma are (1) the karyotype has either macroscopic or molecular evidence of a Y chromosome and (2) the gonads nearly always are located intra-abdominally.
		By the fifth week of fetal development, the path of gonadal differentiation is directed by the chromosomal sex of the fetus and, thereafter, the phenotypic sexual development of the individual.
		As the germinal component overgrows the stroma, the benign characteristic histology of gonadoblastoma progresses to a locally infiltrating pattern that predisposes the patient to the malignant spread of the lesion.
	www.emedicine.com /ped/byname/gonadoblastoma.htm (684 words)

	Gonadal dysgenesis XY type associated anomalies (Site not responding. Last check: 2007-08-23)
		Mixed Gonadal Dysgenesis: Appearance and behaviour depends on which parts are...
		Gonadal dysgenesis, XY female type, is associated with point mutations or deletions of the SRY gene (480000), but also...
		Gonadal dysgenesis, XY female type, is associated with point mutations or deletions of...
	turnerjugend-bonn.de /GonadaldysgenesisXYtypeassociatedanomalies-2370 (194 words)

	Energy Citations Database (ECD) - Energy and Energy-Related Bibliographic Citations
		Mixed gonadal dysgenesis with Turner`s phenotype and mosaic karyotype
		The diagnosis of mixed gonadal dysgenesis was confirmed by exploratory laparotomy and bilateral gonadectomy.
		The histologic examination of the gonads showed a testicle on the left and a streak ovary on right.
	www.osti.gov /energycitations/product.biblio.jsp?osti_id=134617 (416 words)

	TRUE HERMAPHRODITISM: A CASE REPORT
		Because of the possible diagnosis of mixed gonadal dysgenesis, it was decided to re-explore and try to remove the dysgenetic testis and streak ovary.
		The most common gonadal distribution is bilateral ovotestis, followed by an ovary on one side and an ovotestis on the other side, but one can sometimes find a testis on one side and an ovotestis on the other side, or an ovary on one side and a testis on the other side.
		Patients with mixed gonadal dysgenesis are at increased risk of malignant tumor development, namely gonado-blastoma or seminoma and dysgerminoma.
	www.kfshrc.edu.sa /annals/201/99-131.htm (1223 words)

	Medcyclopaedia - Dysgenesis, gonadal
		The gonad is streak like similar to that seen in Turner's syndrome on one side with a testis on the other side.
		Familial gonadal dysgenesis has an X-linked autosomal dominant inheritance and may be associated with campomelic dwarfism.
		These gonads may be separate or have elements of both type of gonad in a single organ.
	medcyclopaedia.com /library/topics/volume_vii/d/DYSGENESIS_GONADAL.aspx (248 words)

	Intersex Initiative: News - Prenatal Diagnosis of Partial Mixed Gonadal Dysgenesis
		The case involves a pregnant woman whose first son had partial mixed gonadal dysgenesis, who came in to test her fetus for the recurrence of the same condition.
		Doctors proposed the parents that the child be raised as a girl, explaining that "it is possible to treat with appropriate means and to enable a good quality of life," but the parents chose to terminate the pregnancy.
		According to the article, the child went through laparotomy (to examine the intra-abdominal gonads) at age three, bilateral gonadectomy at age four, and masculinizing genitoplasty at age six--all before he was old enough to understand the procedure.
	www.intersexinitiative.org /news/000053.html (423 words)

	Gonadal Dysgenesis (Site not responding. Last check: 2007-08-23)
		Gonadal dysgenesis is characterized by Turner's syndrome in which women preset with an XO karyotype...
		Gonadal Dysgenesis by Nichole E. Justus Gonadal dysgenesis also known as Swyer syndrome is characterized by "streak gonads" is a phenotypic female
		Homeobox-Containing Gene Duplication on the der(X) Chromosome in a Female with 45,X/46,X, der(X), Gonadal Dysgenesis, and Tall Stature1...
	www.medicality.org.uk /diseases/gonadal-dysgenesis.php (238 words)

	Mixed gonadal dysgenesis without virilization -- Adashi et al. 50 (4): 397 -- Obstetrics & Gynecology (Site not responding. Last check: 2007-08-23)
		Mixed gonadal dysgenesis without virilization -- Adashi et al.
		Mitchell GW Jr A 19-year-old phenotypic female with primary amenorrhea and 45X,0/46X,Y chromosomal mosaicism was found to have asymmetrical gonadal dysgenesis.
		Her lack of virilization precludes her precise categorization in the current nomenclature of gonadal dysgenesis and she is considered a unique variant of the syndrome of mixed gonadal dysgenesis.
	www.greenjournal.org /cgi/content/abstract/50/4/397 (88 words)

	Sex or Gender Assignment
		The pathway towards a female form seems to be the default for humans, while the path for development of a male fetus is more tortuous, and dependent on many different genes … there is a set of a fairly varied conditions in which a fetus with XY chromosomes develops as a baby girl.
		Accurate preoperative localization of the gonads is important to planning the optimal surgical procedure but is often difficult, particularly in children and the obese.
		Mullerian inhibiting substance (MIS), a gonadal hormone important in sexual differentiation, is high (10 to 70 ng/ml) in human male serum postnatally for several years before declining during the peripubertal period, but is undetectable in female serum until the onset of puberty.
	ibis-birthdefects.org /start/hermaphr.htm (5090 words)

	Testis and Scrotum
		True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases.
		True hermaphroditism (TH) refers to individuals who have both unequivocal ovarian tissue and testicular elements regardless of their karyotypes; whereas mixed gonadal dysgenesis (MGD) refers to individuals who usually have a differentiated gonad on one side and a streak gonad or streak testis on the other side.
		In conclusion, a differential diagnosis between TH and MGD is largely dependent on the histological features of the gonads.
	www.thedoctorsdoctor.com /bodysites/genitalmale.htm (397 words)

	The Sertoli cell in mixed gonadal dysgenesis -- Bonaventura et al. 53 (3): 324 -- Obstetrics & Gynecology
		The Sertoli cell in mixed gonadal dysgenesis -- Bonaventura et al.
		Since 1937, over 100 cases of mixed gonadal dysgenesis have been described.
		In the case presented in this paper the presence or absence of the Sertoli cell in the ipsilateral gonad correlates with the morphology of the internal genitalia on that side.
	www.greenjournal.org /cgi/content/abstract/53/3/324 (128 words)

	Ovary
		lymphoma, malignant mixed mullerian tumor, mesothelioma, metastases to ovary, mullerian adenosarcoma,
		Either (a) testis plus contralateral streak gonad, (b) testis and contralateral gonadal agenesis, (c) hypoplastic gonads with tubules in one gonad, or (d) streak gonad with contralateral tumor
		mixed gonadal dysgenesis (ovarian tissue, if present, lacks primordial follicles; internal/external genitalia are not relevant for distinguishing these two conditions)
	www.pathologyoutlines.com /ovary.html (2297 words)

	gonadal dysgenesis (Site not responding. Last check: 2007-08-23)
		gonadal dysgenesis (streak gonads) and renal abnormalities (nephrotic syndrome)
		Müllerian inhibiting substance, a glycoprotein hormone derived from Sertoli cells and an early marker of testicular differenciation
		mutations in the SRY gene on the distal short arm of the Y chromosome in 46XY sex-reversed females with pure gonadal dysgenesis
	www.humpath.com /article.php3?id_article=5029 (313 words)

	Question and Answers About Mixed Gonadal Dysgenesis - Detroit, Michigan, MI, Henry Ford
		My son, age 15, has mixed gonadal dysgenesis.
		Gonadoblastomas (type of testes cancer) are rare tumors in the general popula-tion but are associated with gonadal dysgenesis and, more specifically, the Y chromatin.
		If all patients with the Y chromosome were known to develop tumors, then there would be no question to remove the testes (orchidectomy).
	www.henryfordhealth.org /19178.cfm (530 words)

	Ovary-Printer friendly page
		pregnancy luteoma, rete ovarii cysts, splenic gonadal fusion,
		Poor prognosis: high stage, high tumor grade, mixed endometrioid worse than pure endometrioid, serous tumors without psammoma bodies worse than with psammoma bodies; aneuploid tumors worse than diploid, epithelial worse than sex cord stromal
		Implants seen in 1/3 of patients with serous borderline tumors, mortality 25%; some may arise from peritoneal mesothelium; destructive invasion and cytologic atypia are associated with disease progression
	www.pathologyoutlines.com /ovarypf.html (3651 words)

	xyTurners - Genetic Mosaics Support Group
		When a person has a Y chromosome in some cells and not others, the resulting condition is called xy-Turners, Mixed Gonadal Dysgenesis, mosaic XY/XO, or simply XY/XO.
		If you’re considering abortion we’d like to offer you help in placing your baby in a loving family.
		If the doctors want to remove your baby’s gonads, if they want to operate on their genitals, if you have to choose between pink and blue, contact us.
	www.xyxo.org (511 words)

	Pure gonadal dysgenesis Gynecology
		Pure gonadal dysgenesis will be diagnosed in the presence of::
		and bilateral streak gonads in phenotypic women with any of several defects of the X chromosome.
		In Pure Gonadal Dysgenesis, the gonads are not developed and the Female Phenotype is due to the failure of Gonadal development
	www.rxpgonline.com /article971.html (359 words)

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