Genital Abnormality - Hypospadias
|Embryology - 17 Feb 2019 Expand to Translate|
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Hypospadias are the most common penis abnormality (1 in 300) and result from a failure of male urogenital folds to fuse in various regions, the normal process is described as virilization of the external genitalia. This in turn leads to resulting in a proximally displaced urethral meatus or opening.
The cause is unknown, but suggested to involve many factors either indivdually or in combination including: familial inheritance, low birth weight, assisted reproductive technology, advanced maternal age, paternal subfertility and endocrine-disrupting chemicals. Infants with hypospadias should not undergo circumcision.
Some Recent Findings
|More recent papers|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
The condition is classified by the general location of the relocated opening (meatus) and lack of fusion.
|Anterior||Q54.1||on inferior surface of glans penis||A|
|Coronal||Q54.0||in balanopenile furrow||B|
|Distal||Q54.0||on distal third of shaft||C|
|Penoscrotal||Q54.2||at base of shaft in front of scrotum||D|
|Scrotal||on scrotum or between the genital swellings||E|
|Perineal||Q54.3||behind scrotum or genital swellings||F|
|Table reference Links: hypospadias|
Penoscrotal Hypospadias 3D Ultrasound
Ultrasonography in rendering mode, at GA 33 weeks, with short penis and with evidence of testicles inside a bifid scrotum.
- Links: Ultrasound
Depending on the class of hypospadias there are a number of different surgical repair techniques including: orthoplasty or penile straightening, urethroplasty, meatoplasty and glanuloplasty, scrotoplasty (oscheoplasty) and skin coverage.
Data from a case-control study in Sweden and Denmark (2000 - 2005) identified a number of maternal factors that may be associated with hypospadias.
- Maternal diet during pregnancy lacking both fish and meat - more than 4-fold increased risk
- Maternal obesity - more than 2-fold increased risk
- Maternal hypertension - 2.0-fold increased risk
- Maternal absence of nausea - 1.8-fold increased risk
- Maternal nausea in late pregnancy - also appeared to be positively associated with increased risk
- chromosomal abnormalities
- HOX, FGF, Shh - genes of penile development
- WT1, SRY - testicular determination
- luteinizing hormone (LH) receptor
- 5alpha reductase, androgen receptor - action of androgen
Links: OMIM - CXorf6
Related Genetic Conditions
- X-linked isolated hypospadias-1 HYSP1 OMIM 300633
- X-linked isolated hypospadias-2 HYSP2 OMIM 300758
- X-linked isolated hypospadias-3 HYSP3 OMIM 146450
- Johanson-Blizzard syndrome - hypospadias, failure to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus.
- Baskin LS, Himes K & Colborn T. (2001). Hypospadias and endocrine disruption: is there a connection?. Environ. Health Perspect. , 109, 1175-83. PMID: 11713004
- Miyado M, Muroya K, Katsumi M, Saito K, Kon M & Fukami M. (2018). Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias. Cytogenet. Genome Res. , , . PMID: 29627832 DOI.
- George M, Schneuer FJ, Jamieson SE & Holland AJ. (2015). Genetic and environmental factors in the aetiology of hypospadias. Pediatr. Surg. Int. , 31, 519-27. PMID: 25742936 DOI.
- Fujimoto T, Suwa T, Kabe K, Adachi T, Nakabayashi M & Amamiya T. (2008). Placental insufficiency in early gestation is associated with hypospadias. J. Pediatr. Surg. , 43, 358-61. PMID: 18280290 DOI.
- Kutlay R, Isik D, Ercel C, Anlatici R & Isik Y. (2010). A new technique for correction of distal penile hypospadias. Ann Plast Surg , 65, 66-9. PMID: 20548222 DOI.
- Seibold J, Werther M, Alloussi S, Gakis G, Schilling D, Colleselli D, Stenzl A & Schwentner C. (2010). Objective long-term evaluation after distal hypospadias repair using the meatal mobilization technique. Scand. J. Urol. Nephrol. , 44, 298-303. PMID: 20450394 DOI.
- Rios LT, Araujo Júnior E, Nardozza LM, Rolo LC, Hatanaka AR, Moron AF & Martins Mda G. (2012). Prenatal diagnosis of penoscrotal hypospadia in third trimester by two- and three-dimensional ultrasonography: a case report. Case Rep Urol , 2012, 142814. PMID: 23304621 DOI.
- Akre O, Boyd HA, Ahlgren M, Wilbrand K, Westergaard T, Hjalgrim H, Nordenskjöld A, Ekbom A & Melbye M. (2008). Maternal and gestational risk factors for hypospadias. Environ. Health Perspect. , 116, 1071-6. PMID: 18709149 DOI.
- Fallahi GH, Sabbaghian M, Khalili M, Parvaneh N, Zenker M & Rezaei N. (2011). Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. Eur. J. Pediatr. , 170, 233-5. PMID: 20556423 DOI.
Carmichael SL, Shaw GM & Lammer EJ. (2012). Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence. Birth Defects Res. Part A Clin. Mol. Teratol. , 94, 499-510. PMID: 22678668 DOI.
van der Zanden LF, van Rooij IA, Feitz WF, Franke B, Knoers NV & Roeleveld N. (2012). Aetiology of hypospadias: a systematic review of genes and environment. Hum. Reprod. Update , 18, 260-83. PMID: 22371315 DOI.
McNamara ER, Schaeffer AJ, Logvinenko T, Seager C, Rosoklija I, Nelson CP, Retik AB, Diamond DA & Cendron M. (2015). Management of Proximal Hypospadias with 2-Stage Repair: 20-Year Experience. J. Urol. , 194, 1080-5. PMID: 25963188 DOI.
June 2010 "Hypospadia" All (4698) Review (377) Free Full Text (413)
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Cite this page: Hill, M.A. (2019, February 17) Embryology Genital Abnormality - Hypospadias. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genital_Abnormality_-_Hypospadias
- © Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G