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Topic: Persistent mullerian duct syndrome

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	Persistent Mullerian Duct Syndrome
		Persistent mullerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the mullerian ducts in males.
		The diagnosis of persistent mullerian duct syndrome was made on the basis of laparoscopic evidence of uterus and tubes, undetectable plasma levels of AMH and a 23 base pair duplicative insertion in exon 5 of the AMH gene, causing the introduction of a premature stop codon, homozygous in the two brothers.
		Persistent Mullerian duct syndrome is characterized by the persistence of Mullerian derivatives in otherwise normally virilized males.
	www.thedoctorsdoctor.com /diseases/pmds.htm (1559 words)

	NationMaster - Encyclopedia: Ambiguous genitalia
		Persistent mullerian duct syndrome: Child has internal uterus and fallopian tubes because Y chromosome fails to produce Mullerian inhibiting factor.
		In the case of complete androgen insensitivity syndrome (CAIS), their tissues are totally insensitive to androgens, and they will develop as females, with normal female external organs.
		This syndrome is sometimes the result of an abnormal interchange of the SRY region from a Y chromosome to an X. Chimerism
	www.nationmaster.com /encyclopedia/Ambiguous-genitalia (1902 words)

	Canine Reproduction Part 5
		This disorder occurs as two distinct types: 1) persistent mullerian duct syndrome and 2) defects in androgen-dependent masculinization.
		Males with PMDS may have normal testes development (though about half are cryptorchid) and appear masculine by all outward appearances; however, they also have a female reproductive tract including a uterus with cervix, oviducts and a portion of the vagina.
		Hypospadias is a defect in the location of the male urinary orifice that typically accompanies syndromes associated with incomplete masculinization.
	www.labbies.com /reproduction5.htm (5904 words)

	NationMaster - Encyclopedia: Intersexual
		XYY, or XYY syndrome and also known as the Jacob Syndrome, is a trisomy of the sex chromosomes in which a human male receives an extra Y chromosome in each cell, hence having a karyotype of 47,XYY.
		Swyer syndrome, or XY gonadal dysgenesis, is a type of female hypogonadism in which no functional gonads are present to induce puberty in an otherwise normal girl whose karyotype is then found to be XY.
		This syndrome is sometimes the result of an abnormal interchange of the SRY region from a Y chromosome to an X. SRY is the sex-determining Y chromosome gene in humans and other primates, linked to determining males.
	www.nationmaster.com /encyclopedia/Intersexual (3487 words)

	Anti-müllerian hormone - Wikipedia, the free encyclopedia
		Anti-Müllerian hormone (AMH) is a dimeric glycoprotein that inhibits the development of the Müllerian ducts in a male embryo.
		In mammals AMH is secreted by Sertoli cells of the testes during embryogenesis of the fetal male and prevents the development of the mullerian ducts into the uterus and other mullerian structures.
		Its ability to inhibit growth of tissue derived from the Müllerian ducts has raised hopes of usefulness in the treatment of a variety of medical conditions including endometriosis, adenomyosis and uterine cancer.
	en.wikipedia.org /wiki/Mullerian_Inhibiting_Substance (506 words)

	21 Hydroxylase Deficiency - New Treatments, May 2, 2006
		Patients with the persistent mullerian duct syndrome have normal male genitalia, and the testes are usually undescended.
		One of the causes of primary amenorrhea is mullerian agenesis.
		In some cases the entire mullerian tract is absent, whereas in others the agenesis affects only certain parts of the tract (such as the vagina and body of the uterus).
	www.ccspublishing.com /journals4a/21_hydroxylase_deficiency.htm (875 words)

	Intersexual (Site not responding. Last check: 2007-10-16)
		Persistent mullerian duct syndrome: Child has uterus and fallopian tubes because Y chromosome to produce Mullerian inhibiting factor.
		In the case of complete androgen syndrome (CAIS) their tissues are totally insensitive androgens and they will develop as females normal female external organs.
		syndrome is sometimes the result of an interchange of the SRY region from a Y chromosome to X. Chimerism
	www.freeglossary.com /Intersexual (1459 words)

	3-М синдромНаследственные заболевания зрительного нерва
		Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases.
		Abdominal B (AbdB) Hoxa genes: regulation in adult uterus by estrogen and progesterone and repression in mullerian duct by the synthetic estrogen diethylstilbestrol (DES).
		Androgens and male physiology: the syndrome of 5alpha-reductase-2 deficiency.
	genetics.rusmedserv.com /refer/article_46.html (3858 words)

	Ambiguous Genitalia and Intersexuality from Pediatrics / Urology
		Syndromes of androgen insensitivity involve a failure of the end organ (external genitalia and prostate) in a 46,XY gonadal male fetus to respond to appropriately produced levels of DHT.
		Confirmation of the diagnosis is crucial because the syndrome is associated with a significant incidence of gonadal malignancies.
		Turner syndrome appears sporadically, suggesting a postzygotic error; however, the XX type of pure gonadal dysgenesis appears to have an autosomal recessive transmission, and the XY type apparently is an X-linked recessive trait.
	author.emedicine.com /PED/topic1492.htm (7128 words)

	PakMediNet - View Abstract
		Transverse testicular ectopia is rarely associated with persistent mullerian duct syndrome.
		During surgery, he was found to have transverse testicular ectopia associated with mullerian duct structures.
		Left orchidopexy into the respective hemiscrotum through the median raphe of the scrotum (Trans-septal fixation), testicular biopsies and excision of the mullerian duct structures were carried out.
	www.pakmedinet.com /view.php?id=2550 (279 words)

	Functions of AMH
		By eliminating the Wolffian duct system by using mice with the androgen-insensitivity syndrome and making double mutants lacking both the AMH and the testosterone receptor, Behringer and colleagues (1994) also showed that complete morphogenesis of the oviduct required the elimination of the Wolffian duct system.
		Deficiency of AMH (or its receptor) causes a male pseudohermaphroditism syndrome referred to as Persistance of the Müllerian Duct Syndrome (PMDS).
		Such a syndrome is similar to that seen in the AMH-knockout mice, except that in about 70% of the PMDS patients, the testes do not descend properly (Guerrier et al., 1989).
	zygote.swarthmore.edu /sex5.html (850 words)

	Intersexuality - Wikipedia, the free encyclopedia
		In persistent mullerian duct syndrome, the child has XY chromosomes typical of a male.
		The child has a male body and an internal uterus and fallopian tubes because his body did not produce Mullerian inhibiting factor during fetal development.
		This syndrome is sometimes the result of an abnormal interchange of the SRY region from a Y chromosome to an X. edit]
	en.wikipedia.org /wiki/Intersexual (1885 words)

	Case Based Pediatrics Chapter
		The indifferent gonad is located on the urogenital ridge, with the Wolffian and Mullerian ducts nearby, which are destined to form the male and female internal ducts, respectively.
		A unicornuate or bicornuate uterus is usually present, and the differentiation of the genital ducts is determined by the ipsilateral gonad, with the ovary usually located on the left side (5).
		Gonadal Dysgenesis (Turner Syndrome) is due to the loss of the second X chromosome (45XO), with resultant bilateral streak gonads, normal Mullerian duct development, and phenotypically female external genitalia.
	www.hawaii.edu /medicine/pediatrics/pedtext/s13c11.html (3853 words)

	Disorders of Sexual Differentiation - New Treatments, May 2, 2006
		Androgen insensitivity syndrome is the most studied of the disorders of sexual differentiation.
		In this rare condition, the phenotype resembles Klinefelter's syndrome (XXY) in that the testes are small (pealike) and dysgenetic, such that infertility is inevitable.
		Partial androgen insensitivity syndrome (PAIS) and 17beta-hydroxysteroid dehydrogenase deficiency (a defect in testosterone biosynthesis) are next in order of prevalence, followed by a group of very rare conditions (11beta-hydroxylase deficiency, 3beta-hydroxysteroid dehydrogenase deficiency, 5alpha-reductase deficiency.
	www.medical-library.org /journals4a/sexual_differentiation_disorders.htm (1290 words)

	PSU Vol 14, 2000
		MS is classified as type I (stenosis of the common hepatic duct due to an impacted cystic duct stone), type II (fistula between cystic and common hepatic duct), type III (hepatic duct stenosis due to a stone), and type IV (hepatic duct stenosis due to cholecystitis).
		Müllerian Duct Syndrome (MDS) refers to a genetic disorder of male pseudohermaphroditism (46 XY karyotype) characterized by normal masculinization of the external genitalia and the presence of uterus and fallopian tubes.
		Most content that surgical excision of persistent MDS structure may result in ischemic or traumatic damage to the vasa deferentia and testes and optimal management is orchiopexy leaving the uterus and fallopian tubes in situ.
	home.coqui.net /titolugo/PSU14.htm (5254 words)

	Intersexuals (Site not responding. Last check: 2007-10-16)
		Androgen insensitivity syndrome.They develop either partially or fully as females, due to their bodies failing to respond to testosterone.
		In the case of complete androgen insensitivity syndrome (CAIS), their tissues are totallyinsensitive to androgens, and they will develop as females, with normal femaleexternal organs.
		However, they will not develop a uterus or fallopian tubes, due to the production of Mullerian inhibiting factorby their testes.
	www.therfcc.org /intersexuals-95228.html (1589 words)

	sex magazine
		In men, a congenital condition called Klinefelter's Syndrome arises when the standard 46XY chromosome pattern of a male human is interrupted by the inclusion, either in the egg or sperm, of at least one extra X chromosome (to become 47XXY, for example).
		The intersexual aspects of the syndrome are caused by a tendency to low testosterone levels and therefore a 'feminised' body type, varying degrees of underdeveloped male genitalia and sterility.
		Other less common causes of intersex conditions are Swyer Syndrome (the result of a damaged testis-determining factor on the Y chromosome) and Persistent Mullerian Duct Syndrome (with which the child, despite having male chromosomes, has a uterus and fallopian tubes because the Y chromosome fails to produce Mullerian inhibiting factor).
	www.channel4.com /health/microsites/H/health/magazine/sex/health_intersex.html (2951 words)

	PakMediNet - View Abstract
		Persistent Mullerian Duct Syndrome (PMDS) is an uncommon form of male pseudohermaphroditism, characterized by the presence of uterus, cervix and fallopian tubes in an otherwise normally differentiated 46 XY male.
		The elder brother underwent routine surgery for bilateral cryptorchidism, while the younger brother presented in emergency with a painful left inguinal swelling, suspected to be torsion of left undescended testis.
		On exploration, both were found to have Mullerian duct structures and transverse testicular ectopia.
	www.pakmedinet.com /view.php?id=223 (252 words)

	IngentaConnect Persistent Mullerian duct syndrome with or without transverse tes... (Site not responding. Last check: 2007-10-16)
		Objective To report three patients with persistent Mullerian duct syndrome (PMDS) associated with a unilateral testicular tumour.
		Conclusion We recommend that the diagnosis of PMDS is made radiologically and that the detection of Mullerian inhibiting factor is mandatory.
		As malignancy does not occur in the retained Mullerian ducts, hysterectomy should not be performed at abdominal exploration, although orchidectomy should be, because orchidopexy offers only limited protection against future malignancy if performed after 2 years of age.
	www.ingentaconnect.com /content/bsc/bju/1997/00000079/00000001/art00272 (259 words)

	Exercise Your Wonder: September 1, 2005
		Testosterone is indeed very important for the Wolffian ducts to develop into the male genital duct system which will ultimately facilitate the passage of sperm from the testes to the exterior of the body.
		Even though “her” testosterone is rendered incapable of stimulating the Wolffian ducts because of a defect in the androgen receptor, her Mullerian ducts also degenerate because of the effects of AMH produced in “her” testes.
		In the situation where the Wolffian ducts do develop into the male genital duct system, but the Mullerian ducts persist and develop as well, they end up entrapping the testes preventing them from properly descending into the scrotum (crytporchidism) ultimately resulting in infertility.
	www.arn.org /docs/glicksman/eyw_050901.htm (3989 words)

	müllerian duct syndrome Pediatric Surgery
		Müllerian Duct Syndrome (MDS) refers to a genetic disorder of male pseudohermaphroditism (46 XY karyotype) characterized by normal masculinization of the external genitalia and the presence of uterus and fallopian tubes.
		Most content that surgical excision of persistent MDS structure may result in ischemic or traumatic damage to the vasa deferentia and testes and optimal management is orchiopexy leaving the uterus and fallopian tubes in situ.
		• müllerian duct syndrome toplam 93 defa okundu
	www.draligus.com /2941h-mullerian-duct-syndrome.html (348 words)

	Medical Dictionary: Persistent Mullerian duct syndrome (PMDS) - WrongDiagnosis.com
		Persistent Mullerian duct syndrome (PMDS) is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Persistent Mullerian duct syndrome (PMDS), or a subtype of Persistent Mullerian duct syndrome (PMDS), affects less than 200,000 people in the US population.
		Persistent mullerian duct syndrome, types I and II
	www.wrongdiagnosis.com /medical/persistent_mullerian_duct_syndrome_pmds_.htm (287 words)

	Perspective: Reproductive Tract Development--New Discoveries and Future Directions -- MacLaughlin et al. 142 (6): 2167 ...
		Wolffian duct (4), and the homeobox gene Hox 6b (5).
		of Wolffian ducts and regression of the Müllerian ducts.
		Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY 1996 A 27 base-pair deletion of the anti-mullerian type II receptor gene is the most common cause of the persistent mullerian duct syndrome.
	endo.endojournals.org /cgi/content/full/142/6/2167 (4898 words)

	Best Cases from the AFIP: Persistent Mullerian Duct Syndrome -- Dekker et al. 23 (2): 309 -- RadioGraphics
		ducts are the anlagen of the female and male reproductive tracts,
		Persistent müllerian duct syndrome: review and report of 3 cases.
		Surgical and genetic aspects of persistent müllerian duct syndrome.
	radiographics.rsnajnls.org /cgi/content/full/23/2/309 (1783 words)

	Testis and epididymis
		Rete testis: at testicular hilum; complex tubular architecture may resemble teratoma; connects testicular tubules to 12-15 ciliated efferent ducts, which merge into a single duct, the epididymis at its head; rete lined by flattened to columnar epithelium with numerous microvilli; efferent duct lumina are narrower than epididymis, lined by ciliated columnar cells with microvilli
		Remnant of mullerian duct; attached to tunica albuginea at upper testicular pole; present in 90% of males
		Rare, mullerian duct structures persist due to lack of AMH effect due to either mutation in AMH gene on #19p or abnormality of receptor gene on #12
	pathologyoutlines.com /testis.html (3272 words)

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