Genital Abnormality - Hypospadia: Difference between revisions

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#REDIRECT [[Genital Abnormality - Hypospadias]]
==Introduction==
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.<ref name="PMID11713004"><pubmed>11713004</pubmed></ref> Infants with hypospadias should not undergo circumcision.
 
== Some Recent Findings ==
{|
|-bgcolor="F5FAFF"
|
* '''Placental insufficiency in early gestation is associated with hypospadias'''<ref name="PMID18280290"><pubmed>18280290</pubmed></ref> "Of the 104 extremely to very low-birth-weight male infants, 16 (15.3%) had hypospadias, and 10 (62.5%) of those had severe proximal hypospadias. Sixty-two controls who did not have hypospadias and whose body weight was less than 1500 g were identified. The incidence of hypospadias in full-term male birth in the hospital was 12 (0.30%) in 3959 births. Birth body weight and their SD for gestational age were lower in patients with hypospadias compared with those for controls (824 +/- 160 vs 1255 +/- 145 g). Placenta-to-fetal ratio (0.323 +/- 0.07 vs 0.229 +/- 0.03) and gestational age were significantly higher in the patients with hypospadias. Histopathologic study of the maternal placenta obtained from the patients with hypospadias revealed pronounced degenerative changes, infarction, and calcification, whereas these abnormalities were rare in controls. The significant association between the occurrence of hypospadias and early growth retardation with higher placenta-to-fetal ratio and placental abnormalities suggest that placental dysfunction in early gestation may play an important role in the development of hypospadias."
* '''Correction of Distal Penile Hypospadias'''
** "The major aims of correction of hypospadias include construction of a neourethra, removal of the chordee, and reduction of the probability of postoperative fistulization. Here, we describe a new technique that can be easily used in cases with subcoronal distal penile hypospadias (even those with chordee) for the construction of the urethra using meatus-based transverse flaps."<ref><pubmed>20548222</pubmed></ref>
** "Meatal mobilization (MEMO) by distal urethral preparation has been demonstrated to be an efficient surgical technique for the correction of distal hypospadias offering excellent short-term success rates."<ref><pubmed>20450394</pubmed></ref>
|}
{| class="wikitable mw-collapsible mw-collapsed"
! More recent papers
|-
| [[File:Mark_Hill.jpg|90px|left]] {{Most_Recent_Refs}}
 
Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Hypospadia ''Hypospadia'']
 
<pubmed limit=5>Hypospadia</pubmed>
|}
==Hypospadia Classification==
[[File:Hypospadia classifications.jpg|thumb|400px|Classification of Hypospadias<ref name="PMID11713004" />]]
The condition is classified by the general location of the relocated opening (meatus) and lack of fusion.
 
 
{|
|-bgcolor="CEDFF2"
| width=200px|'''Hypospadia Classification'''
| '''Meatus Opening'''
| '''Image'''
|-
| Anterior
| on inferior surface of glans penis
| A
|-bgcolor="F5FAFF"
| Coronal
| in balanopenile furrow
| B
|-
| Distal
| on distal third of shaft
| C
|-bgcolor="F5FAFF"
| Penoscrotal
| at base of shaft in front of scrotum
| D
|-
| Scrotal
| on scrotum or between the genital swellings
| E
|-bgcolor="F5FAFF"
| Perineal
| behind scrotum or genital swellings
| F
|}
 
==Surgical Repair==
 
Depending on the class of hypospadias there are a number of different surgical repair techniques including: orthoplasty or penile straightening, urethroplasty, meatoplasty and glanuloplasty, [[S#scrotoplasty|scrotoplasty]] (oscheoplasty) and skin coverage.
 
==Maternal Factors==
 
Data from a case-control study in Sweden and Denmark (2000 - 2005) identified a number of maternal factors that may be associated with hypospadias.<ref><pubmed>18709149</pubmed></ref>
* 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
 
==Molecular Factors==
* chromosomal abnormalities
* HOX, FGF, Shh - genes of penile development
* WT1, SRY - testicular determination
* luteinizing hormone (LH) receptor
* 5alpha reductase, androgen receptor - action of androgen
* CXorf6
* ATF3
 
'''Links:''' OMIM - [http://www.ncbi.nlm.nih.gov/omim/300120 CXorf6]
 
==Related Genetic Conditions==
 
* X-linked isolated hypospadias-1  [http://www.ncbi.nlm.nih.gov/omim/300633 HYSP1 OMIM 300633]
* X-linked isolated hypospadias-2  [http://www.ncbi.nlm.nih.gov/omim/300758 HYSP2 OMIM 300758]
* X-linked isolated hypospadias-3  [http://www.ncbi.nlm.nih.gov/omim/146450 HYSP3 OMIM 146450]
* Johanson-Blizzard syndrome<ref><pubmed>20556423</pubmed></ref> - 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.
 
==References==
 
<references/>
 
===Reviews===
 
===Articles===
 
===Search Pubmed===
 
June 2010 "Hypospadia" All (4698) Review (377) Free Full Text (413)
 
'''Search Pubmed:'''  [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Hypospadia Hypospadia] | [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Hypospadia%20Surgical%20Repair Hypospadia Surgical Repair]
 
==External Links==
 
* [http://www.eurodsd.eu EuroDSD programme]
 
 
 
 
{{Glossary}}
 
{{Footer}}
 
[[Category:Genital]] [[Category:Abnormal Development]] [[Category:Male]]

Latest revision as of 11:52, 11 April 2018