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Topic: Pseudovaginal perineoscrotal hypospadias

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Ambiguous genitalia

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	Hypospadias Andrology
		Hypospadias is a birth defectof the urethrain the malethat involves an abnormally placed urethral meatus(opening).
		Hypospadias are among the most common birth defects of the male genitalia (second to cryptorchidism), but widely varying incidences have been reported from different countries, from as low as 1 in 4000 to as high as 1 in 125 boys.
		This combination of birth defects is referred to as pseudovaginal perineoscrotal hypospadiasand is part of the spectrum of ambiguous genitalia.
	www.lumrix.com /medical/andrology/hypospadias.html (1292 words)

	Pseudovaginal perineoscrotal hypospadias - Wikipedia, the free encyclopedia (Site not responding. Last check: 2007-11-04)
		Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of an infant.
		Although virilizing disorders like congenital adrenal hyperplasia can produce this configuration of the external genitalia in a genetic female, the term pseudovaginal perineoscrotal hypospadias is customarily applied to undervirilized genetic males.
		Many infants with PPHS have been assigned and raised as female despite presence of testes and XY chromosomes.
	en.wikipedia.org /wiki/Pseudovaginal_perineoscrotal_hypospadias (358 words)

	Face Lift \| Rhytidectomy \| Breast Enlargement \| Tummy Tuck (Site not responding. Last check: 2007-11-04)
		Second degree (when the urethra opens on the shaft), and third degree (when the urethra opens on the perineum, as in females) occur in up to 20 and 30% of cases respectively.
		In the United States, two surveillance studies reported that the incidence had increased from about 1 in 500 in the 1970s to 1 in 250 in the 1990s.
		The agents that have caused hypospadias in a small number of boys have been maternal use of synthetic progestins and finasteride in the first two trimesters of pregnancy.
	www.surgeontothestars.com /pages/other_procedures/hypospadias.shtml (1188 words)

	Hypospadias -- Recommendations and Resources (Site not responding. Last check: 2007-11-04)
		I also consider the removal of one of the universally attested facts about hypospadias -- that they are usually sporadic birth defects of unknown cause to be evidence of bad faith and fringe POV by the editor.
		Furthermore, a lower opening on the shaft created by surgery is called a fistula not a hypospadias; no one but someone trying to confuse rather than clarify the topic would attempt to conflate the two.
		However, the place to write about that is in the circumcision article, or even the iatrogenesis article, and ''not'' this article, which is quite unrelated.
	www.becomingapediatrician.com /health/77/hypospadias.html (846 words)

	Pseudovaginal perineoscrotal hypospadias Andrology
		Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitaliaof an infant.
		Although virilizing disorders like congenital adrenal hyperplasiacan produce this configuration of the external genitalia in a genetic female, the term pseudovaginal perineoscrotal hypospadias is customarily applied to undervirilized genetic males.
		Many infants with PPHS have been assigned and raisedas female despite presence of testes and XY chromosomes.
	www.lumrix.net /medical/andrology/pseudovaginal_perineoscrotal_hypospadias.html (330 words)

	Intersex surgery Surgery
		For example, a severely undervirilized boy with a pseudovaginal perineoscrotal hypospadiasmay have midline urogenital closure, third degree hypospadias repair, chordee release and phalloplasty, and orchiopexy performed.
		Orchiopexy and hypospadias repair are the most common types of genital corrective surgery performed in infant boys, but most of these boys have no other abnormalities and are not considered to have an intersexcondition.
		Repair of a third degree hypospadias (urethral opening on perineumor in urogenital opening) is more challenging, may be done in stages, and has a significant rate of complications and unsatisfactory outcomes.
	www.lumrix.net /medical/surgery/intersex_surgery.html (4018 words)

	Medical Dictionary: Pseudovaginal perineoscrotal hypospadias - WrongDiagnosis.com
		Pseudovaginal perineoscrotal hypospadias is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Pseudovaginal perineoscrotal hypospadias, or a subtype of Pseudovaginal perineoscrotal hypospadias, affects less than 200,000 people in the US population.
		They list Pseudovaginal perineoscrotal hypospadias as a "rare disease".
	www.wrongdiagnosis.com /medical/pseudovaginal_perineoscrotal_hypospadias.htm (225 words)

	Pseudovaginal perineoscrotal hypospadias - Pseudovaginal perineoscrotal hypospadias
		Many infants with Pseudovaginal perineoscrotal hypospadias PPHS have been assigned and raised as female despite presence of testes and XY chromosomes.
		Back to the top of Pseudovaginal perineoscrotal hypospadias page.
		A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
	www.medicalgeo.com /Med-Diseases-Po---Q/Pseudovaginal-perineoscrotal-hypospadias.html (413 words)

	Intersex Surgery: Chordee Release
		When it is a complete chordee, the phallus is tethered downwards to the perineum by the skin.
		In more severe cases of chordee it is often accompanied by a hypospadias and sometimes by severe under virilization (a perineal “pseudovaginal pouch” and split (bifid) in the scrotum with an undersized penis).
		This combination of condition is referred to as pseudovaginal perineoscrotal hypospadias.
	www.natfi.org /intersex_surgery_chordee_release.html (137 words)

	Turkish Journal of Endocrinology and Metabolism (Site not responding. Last check: 2007-11-04)
		-reductase deficiency have striking ambiguity of the genitalia with a clitorallike phallus, severely bifid scrotum, pseudovaginal perineoscrotal hypospadias and a rudimentary prostate.
		The third and fourth patients of Dr. Sinnecker’s study [21] were infants with a predominantly male phenotype: penoscrotal hypospadias, chordee, micropenis (1 cm), and bifid scrotum.
		Some of the male pseudohermaphrodites had penoscrotal hypospadias as a variation in clinical expression different from the index case who had perineoscrotal hypospadias and a pseudovagina.
	turk-jem.dergisi.org /text.php3?id=173 (3604 words)

	Mendelian Inheritance in Man Document Reader
		The 3 male sibs were born with ambiguous external genitalia, and the diagnosis of 5-alpha-reductase deficiency was established at the ages of 16, 14, and 10, respectively.
		(2000) examined 2 unrelated patients with pseudovaginal perineoscrotal hypospadias and found differences in the mode of transmission of the disease.
		Patient 1 was a 23-year-old 46,XY individual, raised as a male, who had penoscrotal hypospadias with a phallus 3.0 cm long and 1.0 cm wide at evaluation at age 17.
	www.angis.org.au /bin/Databases/BIRX/birx_doc?phtomim+264600 (3842 words)

	TheFetus.net - Male pseudohermaphrodism due to 5 a-reductase deficiency -Dominique Thomas, MD, C. Heinrichs, MD, L. ...
		Identification of fetal gender is important not only for the parents, but also to detect hypospadias, ambiguous genitalia and cloacal anomalies that could lead to prenatal diagnosis of various genetic syndromes or endocrine disorders.
		Her first baby was born with hypospadias after a normal full term uneventful pregnancy.
		The affected pseudovaginal perineoscrotal hypospadias neonate presents variable degrees of genital ambiguity from the complete absence of virilization as we describe here, usually with blind-ending vagina or urogenital sinus to less severe forms
	www.thefetus.net /page.php?id=268 (1991 words)

	[No title] (Site not responding. Last check: 2007-11-04)
		In 2 related patients with pseudovaginal perineoscrotal hypospadias (PPSH; 264600) from the Simbari Anga linguistic group in the Highlands of Papua New Guinea, Andersson et al.
		In the large kindred affected with pseudovaginal perineoscrotal hypospadias (264600) in the Dominican Republic studied by Imperato-McGinley et al.
		In a Turkish family affected with pseudovaginal perineoscrotal hypospadias (264600) in which the parents were first cousins, Boudon et al.
	srs.embl-heidelberg.de:8000 /srs5bin/cgi-bin/wgetz?-e+[omim-id:607306] (3020 words)

	Hypospadias (Site not responding. Last check: 2007-11-04)
		Is not hypospadias yet known, but also looks normal and duplication vaginal obstruction vaginal.
		If hypospadias is apparent at a later age when the operation which should be seen.
		Modern hypospadias surgery patients should see his hypospadias still be repaired.
	hypospadias.getoveritstl.com /hypospadias_43.html (87 words)

	eMedicine - 5-Alpha-Reductase Deficiency : Article Excerpt by: Bruce E Wilson, MD (Site not responding. Last check: 2007-11-04)
		Because DHT is required for the normal masculinization of the external genitalia in utero, genetic males with 5-ARD are born with ambiguous genitalia (ie, male pseudohermaphroditism).
		The described clinical abnormalities range from infertility with normal male genital anatomy to underdeveloped male with hypospadias to predominantly female external genitalia, most often with mild clitoromegaly.
		Male internal ducts are present but terminate either in a blind pseudovaginal pouch or on the perineum.
	www.emedicine.com /ped/byname/5-alpha-reductase-deficiency.htm (601 words)

	DBGET Result: OMIM 264600 (Site not responding. Last check: 2007-11-04)
		MIM Entry: 264600 Title: #264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH ;;MALE PSEUDOHERMAPHRODITISM DUE TO 5-ALPHA-REDUCTASE DEFICIENCY;; FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2 Text: A number sign (#) is used with this entry because pseudovaginal perineoscrotal hypospadias is caused by mutation in the steroid 5-alpha-reductase-2 gene (SRD5A2; 607306).
		DESCRIPTION Pseudovaginal perineoscrotal hypopadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty.
		The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.
	www.genome.ad.jp /dbget-bin/www_bget?omim+264600 (2056 words)

	Familial male pseudohermaphroditism with incomplete virilization -- Pittaway and Stage 51 (1): 82 -- Obstetrics & ... (Site not responding. Last check: 2007-11-04)
		A 21-year-old 46 XY individual with familial male pseudohermaphroditism was investigated.
		Phenotype consisted of pseudovaginal perineoscrotal hypospadias with bilateral inguinal gonads and a masculine habitus without gynecomastia.
		Plasma testosterone, cortisol, follicle stimulating hormone, urinary 17-ketosteroids, and 17-ketogenic steroids were within the normal male range.
	www.greenjournal.org /cgi/content/abstract/51/1/82s (172 words)

	5-alpha-reductase 2 deficiency (Site not responding. Last check: 2007-11-04)
		The classical syndrome (pseudovaginal perineoscrotal hypospadias) is characterized at birth by ambiguous external genitalia with a clitoral-like phallus, hypospadias, bifid scrotum and persistent urogenital sinus with a perineal blind vaginal pouch.
		However, external genitalia phenotypes may range from complete female to male with hypospadias and/or micropenis.
		Testes are found in the labioscrotal folds or inguinal canals.
	www.orpha.net /static/GB/5alphareductase_2_deficiency.html (296 words)

	Hypospadias - Wikipedia, the free encyclopedia
		A recent questionnaire study of mothers who bore infants with hypospadias reported fivefold higher risk association with vegetarian diet (with plant phytoestrogens the hypothetical link) during pregnancy, and weaker associations with iron supplementation or influenza during early pregnancy (BJU International January 2000;85:107-113); the associations are as yet uncorroborated by additional surveys or other methods.
		Surgical repair of first and second degree hypospadias is nearly always successful in one procedure, usually performed in the first year of life by a pediatric urologist or a plastic surgeon.
		This page was last modified 20:44, 24 September 2006.
	en.wikipedia.org /wiki/Hypospadias (1399 words)

	Picture of hypospadias epispadias
		The deformity is a relatively common birth defect, occurring in one.
		The inheritance likely to have been associated, with hypospadias any past.
		Testicle also known as seminal fluid or creams, as a longterm complication of the penis.
	hypospadias.art-altaia.com /picture-of-hypospadias-epispadias.html (167 words)

	[No title] (Site not responding. Last check: 2007-11-04)
		A number sign (#) is used with this entry because pseudovaginal perineoscrotal hypospadias is caused by mutation in the steroid 5-alpha-reductase-2 gene (SRD5A2; 607306).
		Pseudovaginal perineoscrotal hypopadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty.
		Molecular analysis of the 5-alpha-steroid reductase type 2 gene in a family with deficiency of the enzyme.
	srs.embl-heidelberg.de:8000 /srs5bin/cgi-bin/wgetz?-e+[omim-id:264600] (2079 words)

	eMedicine - 5-Alpha-Reductase Deficiency : Article by Bruce E Wilson, MD (Site not responding. Last check: 2007-11-04)
		A spectrum of findings exist ranging from minimal undervirilization presenting with normal male anatomy, except for isolated micropenis or hypospadias, to severe undervirilization presenting as normal female external genitalia with mild clitoral enlargement as the only physical finding.
		A pseudovaginal blind-ending introitus usually is present with a normal hymen.
		Since the uterus is absent, a rectal examination is negative for a cervical mass.
	www.emedicine.com /ped/topic1980.htm (4700 words)

	Human protein: P31213 - 3-oxo-5-alpha-steroid 4-dehydrogenase 2 (EC ) (Steroid 5- alpha-reductase 2) (SR type 2) (5 ...
		Deficiencies can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH).
		Defects in SRD5A2 are the cause of pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]; also known as male pseudohermaphroditism due to 5-alpha-reductase deficiency or 5-ARD deficiency.
		PPSH is a rare form of male pseudohermaphroditism in which affected males develop normal internal urogenital tracts but fail to develop external male structures.
	harvester.embl.de /harvester/P312/P31213.htm (1493 words)

	Gene Information
		5 alpah reductase type II, Pseudovaginal Perineoscrotal Hypospadias
		The affected males are born with ambiguous genitalia and masculinize at puberty without breast development.
		At puberty, they show male habitus with excellent muscular development, voice change, enlargement of phallus and production of semen, but small prostate and scanty beard.
	ovary.stanford.edu /4_display.html?rec=992 (1060 words)

	Le Magazine, May 2004 - Report: A Comprehensive Guide To Preventive Blood Testing
		Only a small portion of DHT is found in the blood, primarily complexed to sex hormone-binding globulin (SHBG).
		Low levels of DHT may be associated with decreased sex drive, erectile dysfunction, male pseudohermaphroditism, or pseudovaginal perineoscrotal hypospadias.
		Increased levels of DHT may be implicated in male-pattern baldness (alopecia), hirsutism (excessive hair growth in women), benign prostatic hyperplasia, and acne.
	www.lef.org /magazine/mag2004/may2004_report_blood_05.htm (1902 words)

	Johns Hopkins - Brady Urological Institute- Patrick C. Walsh, M.D.- PUBLICATIONS
		Plasma androgen responce to hCG stimulation in prepubertal boys with hypospadias and cryptorchidism.
		The induction of prostatic hypertrophy in the dog with androstanediol.
		The incidence of intersexuality in patients with hypospadias and cryptorchidism.
	urology.jhu.edu /patrickwalsh/publications.php (8541 words)

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