Genital Abnormality - Hypospadias
|Embryology - 18 Jul 2018 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 shows an automated computer PubMed search using the listed sub-heading term.
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
Andrey Frolov, Yun Tan, Mohammed Waheed-Uz-Zaman Rana, John R Martin A Rare Case of Human Diphallia Associated with Hypospadias. Case Rep Urol: 2018, 2018;8293036 PubMed 30009078
Patrick Sproll, Wassim Eid, Camila R Gomes, Berenice B Mendonca, Nathalia L Gomes, Elaine M-F Costa, Anna Biason-Lauber Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development. Mol Genet Genomic Med: 2018; PubMed 29998616
P Yi, H L Niu, Q Gao, F H Wang, W Jia, Z R Chen, J Q Xia, L P Li, Y Cao, R X Zeng [Pathologic features on gonadal changes of sexual developmental disorders in children]. Zhonghua Bing Li Xue Za Zhi: 2018, 47(7);531-535 PubMed 29996319
Warren Snodgrass, Nicol Bush Is distal hypospadias repair mostly a cosmetic operation? J Pediatr Urol: 2018; PubMed 29970334
Rizki Diposarosa, Kurniawan O Pamungkas, Yunia Sribudiani, Herry Herman, Lita P Suciati, Nurul S Rahayu, Sjarif H Effendy Description of mutation spectrum and polymorphism of Wilms' tumor 1 (WT1) gene in hypospadias patients in the Indonesian population. J Pediatr Urol: 2018, 14(3);237.e1-237.e7 PubMed 29958641
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. (2018, July 18) Embryology Genital Abnormality - Hypospadias. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genital_Abnormality_-_Hypospadias
- © Dr Mark Hill 2018, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G