Genital Abnormality - Hypospadias
|Embryology - 21 Apr 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.
R B Aldamanhori, N I Osman, R D Inman, C R Chapple Contemporary outcomes of Hypospadias retrieval surgery in Adults. BJU Int.: 2018; PubMed 29671932
Shoko Matsushita, Kentaro Suzuki, Aki Murashima, Daiki Kajioka, Alvin Resultay Acebedo, Shinichi Miyagawa, Ryuma Haraguchi, Yukiko Ogino, Gen Yamada Regulation of masculinization: androgen signalling for external genitalia development. Nat Rev Urol: 2018; PubMed 29670181
Yong Seung Lee, Sang Woon Kim, Sang Won Han Different managements for prepubertal epididymitis based on a preexisting genitourinary anomaly diagnosis. PLoS ONE: 2018, 13(4);e0194761 PubMed 29668706
Zhi-Hui Zhang, Shu-Hui Wang, Ji-Xiang Bai [Gene polymorphisms of estrogen receptor α correlated with hypospadias in children]. Zhonghua Nan Ke Xue: 2017, 23(1);61-64 PubMed 29658239
Woo Jin Kim, Chihiro Hayashi, Yuichiro Yamazaki Age-related changes in urinary flow following dorsal inlay graft urethroplasty for hypospadias in early childhood: Potential improvement over 11 years of age. J Pediatr Urol: 2018; PubMed 29655861
The condition is classified by the general location of the relocated opening (meatus) and lack of fusion.
|Hypospadias Classification||Meatus Opening||Image|
|Anterior||on inferior surface of glans penis||A|
|Coronal||in balanopenile furrow||B|
|Distal||on distal third of shaft||C|
|Penoscrotal||at base of shaft in front of scrotum||D|
|Scrotal||on scrotum or between the genital swellings||E|
|Perineal||behind scrotum or genital swellings||F|
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, April 21) 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