Infobox Disease Name Pseudohermaphroditism Image Caption DiseasesDB 14836 DiseasesDB mult DiseasesDB2 14839 ICD10 ICD10 Q 56 1 q 50 ICD10 Q 56 3 q 50 ICD9 ICD9 752.7 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D012734 main Intersexuality Pseudohermaphroditism , or pseudo hermaphroditism , is the condition in which an organism is born with secondary sex characteristic s ref name titleDorlands Medical Dictionary cite web url http www.mercksource.com pp us cns cns hl dorlands.jspzQzpgzEzzSzppdocszSzuszSzcommonzSzdorlandszSzdorlandzSzdmd p 39zPzhtm 12675444 title Dorlands Medical Dictionary accessdate 2007 12 07 format work ref or a phenotype ref name title cite web url http www.nlm.nih.gov cgi mesh 2008 MB cgi?field uid&term D011545 title MESH accessdate 2007 12 07 format work ref that is different from what would be expected on the basis of the gonad al tissue ovary or testis . In some cases, the external sex organs look intermediate between the typical clitoris or penis . In other cases, the external sex organs have an appearance that does not look intermediate, but rather has the appearance that would be expected to be seen with the opposite gonadal tissue. Because of this, pseudohermaphroditism is sometimes not identified until puberty . It is possible for the condition to be undetected until adulthood. ref name pmid6485686 cite journal author Michiels I, Peperstraete ... pseudohermaphroditism journal Acta Chir. Belg. volume 84 issue 4 pages 255 8 year 1984 pmid 6485686 ... in severely masculinised female pseudohermaphroditism language Spanish Castilian journal Cir Pediatr ... satisfaction with male pseudohermaphroditism or true hermaphroditism a cohort of 63 patients journal ... 1 ref Terminology Use of the term pseudohermaphroditism can be problematic, and is now considered redundant. ref name lee The term pseudohermaphroditism was created by Edwin Klebs in 1876, ref name ... Male congenital malformations of genital organs, indeterminate sex and pseudohermaphroditism Category ... more details
Infobox disease Name Luteoma Image Caption DiseasesDB ICD10 C56.9 ICD9 ICDO 8610 0 OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D018311 Luteoma is a rare tumor of the ovaries . It can be associated with female pseudohermaphroditism . ref name pmid11870143 cite journal author Mazza V, Di Monte I, Ceccarelli PL, et al. title Prenatal diagnosis of female pseudohermaphroditism associated with bilateral luteoma of pregnancy case report journal Hum. Reprod. volume 17 issue 3 pages 821 4 year 2002 month March pmid 11870143 doi 10.1093 humrep 17.3.821 url http humrep.oxfordjournals.org cgi pmidlookup?view long&pmid 11870143 ref Presentation This type of ovarian tumor produces progesterone . The excess of this hormone produces the symptoms that accompany this disease. Progesterone determines the modifications in the endometrium that block menstruation . The symptoms of this tumor simulate pregnancy . It can cause hirsutism . ref name pmid11127014 cite journal author Choi JR, Levine D, Finberg H title Luteoma of pregnancy sonographic findings in two cases journal J Ultrasound Med volume 19 issue 12 pages 877 81 year 2000 month December pmid 11127014 doi url http www.jultrasoundmed.org cgi pmidlookup?view long&pmid 11127014 ref Causes This type of tumor derives from a previous folliculoma or thecoma that luteinization has endured, acquiring the ability to produce and to accumulate the hormone. References reflist External links http esynopsis.uchc.edu eAtlas GYN 1323.htm Histology at esynopsis.uchc.edu Gonadal tumors, paraganglioma, glomus, nevi and melanomas Breast cancer urogenital neoplasia Category Gynaecological cancer retained ancestor category for benign cases retained ancestor category for benign cases oncology stub it Luteoma ... more details
syndrome of male pseudohermaphroditism, Wilms tumor, parenchymatous nephropathy and XX XY ... 4292870 doi cite journal author Drash A , Sherman F, Hartmann WH, Blizzard RM title A syndrome of pseudohermaphroditism ... more details
uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia ... cite journal author Ademola Akesode F, Meyer WJ, Migeon CJ title Male pseudohermaphroditism with gynaecomastia ... author Eckstein B, Cohen S, Farkas A, R sler A title The nature of the defect in familial male pseudohermaphroditism ... pseudohermaphroditism due to 17 beta hydroxysteroid dehydrogenase deficiency studies on the natural ... is associated with pseudohermaphroditism in males and normal asymptomatic females. journal J. Clin ... missense R80W mutation in 17 beta hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism ... more details
Downs syndrome Duffner , DSD Data structure diagram , a visual representation of the physical data structure of a database, showing tables, fields, foreign keys, primary keys, relationships, etc. Defence Signals Directorate , an Australian intelligence agency. Department for Social Development Bladder sphincter dyssynergia Detrusor sphincter dyssynergia Das Deutsche Sprachdiplom German Language Diploma , a certificate test offered by the German Academic Exchange Service DAAD Direct Stream Digital , a method of storing audio on digital media Direct Store Delivery , where manufacturers deliver product directly to retail outlets bypassing a 3rd party Distributor. Disorders of sex development , replaces variety of earlier terms such as Pseudohermaphroditism and Intersexuality Dejerine Sottas disease type of Hereditary motor and sensory neuropathy . Document Structure Description , a schema language for describing valid XML. Do Something Different , a British CBBC show Don S. Davis , an American actor. Downing Street Declaration Drainage Services Department Dry sterile dressing , used for covering wounds Driver s Safety Device British Rail , Taiwan High Speed Rail also Vigilance Device VIG see Dead man s switch Discover SCUBA Diving program of the Professional Association of Diving Instructors PADI Divisional Secretariats of Sri Lanka division Director of Professional development Staff Development Dirty South Divas, a Tampa based Hip Hop group consisting of Tata Parker and Elsie Pacheco. They are best known for the work on rapper Khia s album, Thug Misses . Dangerous Substances Directive 67 548 EEC , One of the main European Union laws concerning chemical safety. Rain drop Size Distribution DSD . The study of the wide distribution of raindrops sizes within rainfalls. DSD , a Korean rapper disambig de DSD fr DSD it DSD ja DSD no DSD pl DSD zh DSD ... more details
Infobox Disease Name Anorchia Image Caption DiseasesDB 29633 ICD10 ICD10 Q 55 0 q 50 ICD9 ICD9 752.89 ICDO OMIM 273250 MedlinePlus 001185 eMedicineSubj eMedicineTopic MeshID Anorchia or anorchism , sometimes spelled anarchism is a medical condition where both testes are absent at childbirth birth . Within a few weeks of fertilization , the embryo develops rudimentary sex organs , which are crucial to the development of the reproductive system . In the human male, if these fail to develop within eight weeks, the baby will have female genitalia see Swyer syndrome . If the testes are lost between eight and 10 weeks, the baby will have ambiguous genitalia when it is born. However, if the testes are lost after 14 weeks, the baby will have a normal male reproductive system , other than the absence of testes. citation needed date February 2012 Individuals with this condition have a 46,XY karyotype. Signs include an empty scrotum and lack of secondary sex characteristics . Medical test Tests include testosterone levels low follicle stimulating hormone and luteinizing hormone levels elevated X,Y karyotype ultrasound or magnetic resonance imaging showing absent gonadal tissue bone density low anti Mullerian hormone levels low surgical exploration for evidence of male gonadal tissue. Treatment Treatment includes androgen male hormone supplementation, testicular prosthetic implantation, and psychological support. Other names Other names for anorchia include congenital anorchia vanishing testes syndrome vanishing testes empty scrotum testicular regression syndrome TRS See also Cryptorchidism Monorchism References cite web title Anorchia work University of Maryland Medical Center url http www.umm.edu ency article 001185.htm accessdate January 25, 2006 http www.nlm.nih.gov medlineplus Male congenital malformations of genital organs, indeterminate sex and pseudohermaphroditism Category Congenital disorders of male genital organs cs Anorchismus de Anorchie es Anorquia fr Anorchidie ... more details
Refimprove date November 2009 The gender taxonomy is a Taxonomic classification classification of the range of different levels at which human s vary in sexual characteristics . It is mainly used by medical specialists working in the area of sexology sex research . ref A review of cross gender taxonomies shows that previous observers have identified and labeled a homosexual type far more consistently than any other category of male gender dysphoric. br Ray Blanchard , http www.springerlink.com content kp318216v0055487 The classification and labeling of nonhomosexual gender dysphorias , Archives of Sexual Behavior 18 4 1989 315 334. ref John Money and Milton Diamond are probably the best known researchers in this field. Money earned his Doctorate PhD for research into human hermaphrodite hermaphroditism and pseudohermaphroditism , now known as intersex conditions. The taxonomy starts at the simplest, biology biological level and traces differentiations expressed at the increasingly complicated levels produced over the course of the human Biological life cycle life cycle . chromosome s 46,XX 46,XY 47,XXY Klinefelter s syndrome 45,X0 Turner syndrome XYY syndrome 47,XYY 47,XXX Triple X syndrome XXXX syndrome XXXXX syndrome , 48,XXYY syndrome , 46,XX XY Mosaic genetics mosaic , other mosaic, and others gonad s testes , ovary ovaries , one of each, Ovotestis ovotestes , other types of gonadal dysgenesis Sex steroids hormones androgen s including testosterone estrogen s, including estradiol , estriol , estrone antiandrogen s and others Sex organ genitals primary sexual characteristics see http www.dsdguidelines.org htdocs parents handout genital development.html diagram for the six class system secondary sexual characteristic s Sexual dimorphism dimorphic physical characteristics, other than primary characteristics brain structure special kinds of secondary characteristics, due to their influence on psychology and behaviour gender identity psychology psychological identifi ... more details
For the anatomical abnormality observed in 1965 Fraser syndrome Infobox disease Name Frasier syndrome Image Caption DiseasesDB 32455 ICD10 ICD9 ICDO OMIM 136680 MedlinePlus eMedicineSubj eMedicineTopic MeshID D052159 Frasier syndrome is a urogenital anomaly associated with WT1 . ref name pmid9499425 cite journal author Klamt B, Koziell A, Poulat F, et al. title Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 KTS splice isoforms journal Hum. Mol. Genet. volume 7 issue 4 pages 709 14 year 1998 month April pmid 9499425 doi 10.1093 hmg 7.4.709 url http hmg.oxfordjournals.org cgi pmidlookup?view long&pmid 9499425 ref It was first characterized in 1964. ref name pmid14149008 cite journal author FRASIER SD, BASHORE RA, MOSIER HD title GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS journal J. Pediatr. volume 64 issue 5 pages 740 5 year 1964 month May pmid 14149008 doi 10.1016 S0022 3476 64 80622 3 url ref Presentation Frasier syndrome presents at birth with male pseudohermaphroditism the external genitalia have a female appearance despite an XY genotype , streak gonads and progressive glomerulonephropathy focal segmental glomerulosclerosis . Patients are also at increased risk of genitourinary tumours usually gonadoblastoma . The glomerulonephropathy presents later than in Denys Drash syndrome, and the tumour risk phenotype is different whilst DDS is associated with Wilms tumour, Frasier syndrome is associated with gonadoblastoma. Differentiating between the two syndromes can be challenging. ref http www.ncbi.nlm.nih.gov omim 136680 ref See also WT1 Wilms tumour Denys Drash syndrome References reflist Category Genitourinary system diseases medicine stub ... more details
duct syndrome A rare type of pseudohermaphroditism that occurs in 46 XY males, caused by either ... infertility. Male pseudohermaphroditism Failure of androgen production or inadequate androgen response ... more details
, T.Venditto, A.A.Sinisi date 1997 12 02 title Laparoscopic hysterectomy in a case of male pseudohermaphroditism ... Male congenital malformations of genital organs, indeterminate sex and pseudohermaphroditism Receptor ... more details
DW title Deletion of steroid 5 alpha reductase 2 gene in male pseudohermaphroditism. journal Nature ... M cite journal author Anwar R, Gilbey SG, New JP, Markham AF title Male pseudohermaphroditism resulting ... more details
Infobox Disease Name PAGENAME Image Caption DiseasesDB 11 ICD10 ICD9 ICDO OMIM 264600 MedlinePlus eMedicineSubj ped eMedicineTopic 1980 MeshID Pseudovaginal perineoscrotal hypospadias PPSH refers to a configuration of the external genitalia of an infant. In a sense, this configuration is roughly midway between normal male genitalia and normal female genitalia in structure and appearance. It is a relatively common form of ambiguous genitalia genital ambiguity caused by under virilization of genetic males due to several different intersex conditions. Presentation PPSH usually consists of a phallus midway in size between penis and clitoris , a chordee tethering it to the perineum , a urethra l opening usually on the perineum the hypospadias , and an incompletely closed urogenital opening, which resembles a small and shallow vagina . Testes are often palpable in the scrotum or inguinal canal s, and the karyotype is XY. In most cases there are no internal female structures such as a uterus or other mullerian duct derivatives. Causes It is considered a form of 5 alpha reductase deficiency involving SRD5A2 . ref name pmid16098368 cite journal author Bahceci M, Ersay AR, Tuzcu A, Hiort O, Richter Unruh A, Gokalp D title A novel missense mutation of 5 alpha reductase type 2 gene SRD5A2 leads to severe male pseudohermaphroditism in a Turkish family journal Urology volume 66 issue 2 pages 407 10 year 2005 pmid 16098368 doi 10.1016 j.urology.2005.02.021 ref ref name NieschlagBehre2009 cite book author1 Eberhard Nieschlag author2 Hermann M. Behre author3 Susan Nieschlag title Andrology Male Reproductive Health and Dysfunction url http books.google.com books?id mEgckDNkonUC&pg PA328 accessdate 2 January 2011 date July 2009 publisher Springer isbn 9783540783541 pages 328 ref Management When an infant is born with PSH, the most difficult management decision has often been the sex assignment , since genitalia with this degree of ambiguity do not resemble either sex very well with re ... more details
anorectal anomalies see Anorectal malformation Pseudohermaphroditism female skeletal anomalies Pseudohermaphroditism male with gynecomastia Pseudohermaphroditism mental retardation Pseudohermaphroditism ... more details
PBB geneid 1586 CYP17A1 also known as cytochrome P450 17A1 , or steroid 17 alpha monooxygenase , or 17 hydroxylase 17,20 lyase 17,20 desmolase ref name boron Medical Physiology, Boron & Boulpaep, ISBN 1 4160 2328 3, Elsevier Saunders 2005. Updated edition. Page 1180. ref is a cytochrome P450 enzyme that acts upon pregnenolone and progesterone to add a hydroxyl OH group at carbon 17 of the steroid D ring the hydroxylase activity , or acts upon 17 hydroxyprogesterone and 17 hydroxypregnenolone to split the side chain off the steroid nucleus the lyase activity . Image DHEA1.svg thumb right 300px 17&alpha hydroxylase converts pregnenolone and progesterone to their 17 hydroxy forms, and converts 17 hydroxypregnenolone and 17 hydroxyprogesterone to DHEA and androstenedione, respectively. It corresponds to the downward arrows in this reaction scheme. This gene encodes a member of the cytochrome P450 superfamily of enzyme s. The cytochrome P450 proteins are monooxygenase s that catalyze many reactions involved in drug metabolism and synthesis of cholesterol , steroid s, and other lipid s. This protein localizes to the endoplasmic reticulum . It has both 17alpha hydroxylase and 17,20 lyase activities, and is a key enzyme in the steroidogenic pathway that produces progestin s, mineralocorticoid s, glucocorticoid s, androgen s, and estrogen s. Mutations in this gene are associated with Congenital adrenal hyperplasia due to 17 alpha hydroxylase deficiency 17 alpha hydroxylase deficiency , 17 alpha hydroxylase 17,20 lyase deficiency , pseudohermaphroditism , and adrenal hyperplasia . ref cite web title Entrez Gene CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 1586 accessdate ref CYP17A1 is inhibited by the drug Abiraterone , which is used to treat castration resistant prostate cancer . Abiterone binds in the active site of the enzyme in contact with the heme iron, mimicking the s ... more details
refimprove date January 2008 Infobox Disease Name 17 beta hydroxysteroid dehydrogenase deficiency Image Caption DiseasesDB 32638 ICD10 ICD9 ICDO OMIM 264300 MedlinePlus eMedicineSubj eMedicineTopic MeshID 17 beta hydroxysteroid dehydrogenase III deficiency is a rare disorder of sexual development affecting testosterone biosynthesis, which can produce impaired virilization traditionally termed male pseudohermaphroditism of genetically male infants and children and excessive virilization of female adults. It is an autosomal recessive ref cite journal pmid 8550739 year 1996 month January author Andersson, S Geissler, Wm Wu, L Davis, Dl Grumbach, Mm New, Mi Schwarz, Hp Blethen, Sl Mendonca, Bb Bloise, W Witchel, Sf Cutler, Gb, Jr Griffin, Je Wilson, Jd Russel, Dw title Molecular genetics and pathophysiology of 17 beta hydroxysteroid dehydrogenase 3 deficiency volume 81 issue 1 pages 130 6 issn 0021 972X journal The Journal of clinical endocrinology and metabolism doi 10.1210 jc.81.1.130 ref condition and is one of the few disorders of sexual development that can affect the primary sex characteristic primary and or secondary sex characteristic s of both XY sex determination system males and females . Prevalence In the Netherlands, 17 beta hydroxysteroid dehydrogenase III deficiency is estimated to occur in 1 147,000 newborns. ref cite journal pmid 10599740 doi 10.1210 jc.84.12.4713 title 17 Hydroxysteroid Dehydrogenase 3 Deficiency Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations year 1999 author Boehmer, A. L. M. journal Journal of Clinical Endocrinology & Metabolism volume 84 pages 4713 21 issue 12 ref Clinical characteristics 17 beta hydroxysteroid dehydrogenase III deficiency is clinically characterized by either ambiguous external genitalia or complete female external genitalia at birth as a consequence of impaired male sexual differentiation in 46,XY individuals. Further investigations on ambiguous ... more details
journal author M barki F, Sanchez R, Rh aume E, et al. title Nonsalt losing male pseudohermaphroditism ... dehydrogenase type II leading to male pseudohermaphroditism without salt loss. journal J ... M, et al. title Mutation in 3 beta hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism ... more details
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