Aphallia: Difference between revisions

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{{Infobox medical condition (new)
 
{{Infobox medical condition
| name            = Aphallia
| name            = Aphallia
| synonyms        = Penile agenesis<ref>{{cite web |last1=RESERVED |first1=INSERM US14-- ALL RIGHTS |title=Orphanet: Penile agenesis |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 |website=www.orpha.net |accessdate=16 March 2019 |language=en}}</ref>
| synonyms        = Penile agenesis
| image          =
| field          = [[Urology]], [[Pediatrics]], [[Medical genetics]]
| alt            =
| symptoms        = Absence of [[penis]] at birth
| caption        =
| complications  = [[Urinary tract]] issues, [[infertility]], [[psychological impact]]
| pronounce      =
| onset          = [[Congenital]]
| field          =  
| duration        = Lifelong
| symptoms        =  
| causes          = [[Genetic mutation]]
| complications  =  
| risks          = [[Genetic disorders]], [[developmental anomalies]]
| onset          =  
| diagnosis      = [[Physical examination]], [[genetic testing]]
| duration        =  
| differential    = [[Micropenis]], [[intersex conditions]]
| types          =
| prevention      = None
| causes          =  
| treatment      = [[Surgical reconstruction]], [[hormone therapy]]
| risks          =  
| prognosis      = Variable, depends on associated conditions
| diagnosis      =  
| frequency      = Extremely rare, estimated 1 in 10-30 million births
| differential    =  
| prevention      =  
| treatment      =  
| medication      =
| prognosis      =  
| frequency      =  
| deaths          =
}}
}}
'''Aphallia''' is a [[congenital disorder|congenital]] malformation in which the [[Phallus (embryology)|phallus]] ([[penis]] or [[clitoris]]) is absent. It is the female counterpart of [[penile agenesis and testicular agenesis]].<ref name="titleAphallia | Intersex Society of North America">{{cite web |url=http://www.isna.org/faq/conditions/aphalia |title=Aphallia &#124; Intersex Society of North America |accessdate=2007-12-08 | archiveurl= https://web.archive.org/web/20080104200328/http://www.isna.org/faq/conditions/aphalia| archivedate= 4 January 2008 | url-status= live}}</ref>  The word is derived from the [[Ancient Greek|Greek]] ''a-'' for "not", and ''phallos'' for "penis". It is classified as an [[intersex]] condition.
{{Short description|Congenital absence of the penis}}
 
{{Medical condition}}
==Causes==
'''Aphallia''' is a rare congenital condition characterized by the absence of the [[penis]] in individuals with a [[male]] [[karyotype]]. It is a type of [[genital anomaly]] that occurs during fetal development. This condition is extremely rare, with only a few cases reported in medical literature.
Aphallia has no known cause. It is not linked to deficient [[hormone]] amounts or action, but rather to a failure of the fetal [[genital tubercle]] to form between 3 and 6 weeks after conception. The [[urethra]] of an affected child opens on the [[perineum]].
==Etiology==
 
Aphallia results from a failure in the development of the genital tubercle during the early stages of embryogenesis. The genital tubercle is a precursor to the penis in males and the clitoris in females. The exact cause of this developmental failure is not well understood, but it is believed to involve complex genetic and environmental factors.
==Clinical Presentation==
Individuals with aphallia typically present with:
* Absence of the penis
* Normal [[scrotum]] and [[testes]]
* Normal male [[karyotype]] (46,XY)
* Possible presence of a [[urethral opening]] in the perineum
==Diagnosis==
==Diagnosis==
{{Empty section|date=February 2018}}
Diagnosis of aphallia is usually made at birth based on the physical examination. Further evaluation may include:
 
* [[Ultrasound]] to assess internal genital structures
==Treatment==
* [[Karyotyping]] to confirm male chromosomal pattern
Congenital anomalies like cryptorchidism, renal agenesis/dysplasia, musculoskeletal and cardiopulmonary anomalies are also common (>50% cases), hence evaluation of the patient for internal anomalies is mandatory.
* [[Endocrine]] evaluation to assess hormone levels
Although aphallia can occur in any body type, it is considered a substantially more troublesome problem with those who have testes present, and has in the past sometimes been considered justification for [[sex assignment|assigning]] and [[sex of rearing|rearing]] a [[genetics|genetically]] male infant as a girl. After the theory in the 1950s that gender as a [[social construct]] was purely nurture and so an individual child could be raised early on and into one gender or the other regardless of their genetics or brain chemistry. Intersex people generally advocate harshly against coercive genital reassignment however, and encourage infants to be raised choosing their own gender identity. The nurture theory has been largely abandoned and cases of trying to rear children this way have not proven to be successful transitions.<ref>{{cite web |url=http://www.isna.org/faq/concealment |title=What's wrong with the way intersex has traditionally been treated? |work=[[Intersex Society of North America]]}}</ref>
==Management==
 
Management of aphallia involves a multidisciplinary approach, including:
Nowadays consensus recommends male gender assignment<ref>[https://www.karger.com/Journal/Issue/271471 Horm Res Paediatr 2016;85:112-118]</ref><ref>{{Cite journal|pmc = 5217138|year = 2017|last1 = Venkatesh|first1 = S. K|title = Male Gender Assignment of a Child with Aphallia and Associated Complex Urological Anomaly|journal = Journal of Indian Association of Pediatric Surgeons|volume = 22|issue = 1|pages = 38–39|last2 = Babu|first2 = P. R|last3 = Joseph|first3 = T. P|last4 = Varma|first4 = K. K|pmid = 28082775|doi = 10.4103/0971-9261.194619}}</ref>
* [[Surgical]] intervention to create a functional [[urinary]] and [[reproductive]] system
 
* [[Hormone replacement therapy]] if necessary
Recent advances in surgical [[phalloplasty]] techniques have provided additional options for those still interested in pursuing surgery.<ref name="pmid17296424">{{cite journal |vauthors=De Castro R, Merlini E, Rigamonti W, Macedo A |title=Phalloplasty and urethroplasty in children with penile agenesis: preliminary report |journal=J. Urol. |volume=177 |issue=3 |pages=1112–6; discussion 1117 |year=2007 |pmid=17296424 |doi=10.1016/j.juro.2006.10.095}}</ref><ref name="pmid17574944">{{cite journal |vauthors=Descamps MJ, Hayes PM, Hudson DA |title=Phalloplasty in complete aphallia: pedicled anterolateral thigh flap |journal=J Plast Reconstr Aesthet Surg |volume= 62|issue= 3|pages= e51–4|year=2007 |pmid=17574944 |doi=10.1016/j.bjps.2007.04.014}}</ref>
* [[Psychological support]] for the patient and family
 
==Prognosis==
==Incidence==
The prognosis for individuals with aphallia varies depending on the presence of other anomalies and the success of surgical interventions. With appropriate management, individuals can lead fulfilling lives, although they may face challenges related to [[fertility]] and [[sexual function]].
It is a rare condition, with only approximately 60 cases reported as of 1989,<ref name="pmid2918598">{{cite journal |vauthors=Skoog SJ, Belman AB |title=Aphallia: its classification and management |journal=J. Urol. |volume=141 |issue=3 |pages=589–92 |year=1989 |pmid=2918598 |doi=10.1016/S0022-5347(17)40903-7}}</ref> and 75 cases as of 2005.<ref name="pmid16142564">{{cite journal |vauthors=Chibber PJ, Shah HN, Jain P, Yadav P |title=Male gender assignment in aphallia: a case report and review of the literature |journal=Int Urol Nephrol |volume=37 |issue=2 |pages=317–9 |year=2005 |pmid=16142564 |doi=10.1007/s11255-004-7974-0}}</ref> However, due to the stigma of intersex conditions and the issues of keeping accurate statistics and records among doctors, it is likely there are more cases than reported.
==Related pages==
 
* [[Congenital disorder]]
==See also==
* [[Genital anomaly]]
* [[David Reimer]] - a born male child whose parents were advised by a psychologist to raise as a girl after a botched circumcision.
* [[Intersex]]
* [[Perineal urethra]]
* [[Hypospadias]]
 
==References==
{{reflist}}
 
== External links ==
{{Medical resources
|  ICD10          = Q55.5
|  ICD9            = <!--{{ICD9|xxx}}-->
|  ICDO            =
|  OMIM            =
|  DiseasesDB      =
|  MedlinePlus    =
|  eMedicineSubj  =
|  eMedicineTopic  =
|  MeSH            = C536649
|  GeneReviewsNBK  =
|  GeneReviewsName =
|  Orphanet        = 49
}}
{{Female congenital malformations of genital organs}}
{{Male congenital malformations of genital organs, indeterminate sex and pseudohermaphroditism}}
 
[[Category:Congenital disorders of genital organs]]
[[Category:Congenital disorders of genital organs]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
[[Category:Intersex and medicine]]

Latest revision as of 01:06, 4 April 2025


Aphallia
Synonyms Penile agenesis
Pronounce N/A
Specialty N/A
Symptoms Absence of penis at birth
Complications Urinary tract issues, infertility, psychological impact
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Genetic disorders, developmental anomalies
Diagnosis Physical examination, genetic testing
Differential diagnosis Micropenis, intersex conditions
Prevention None
Treatment Surgical reconstruction, hormone therapy
Medication N/A
Prognosis Variable, depends on associated conditions
Frequency Extremely rare, estimated 1 in 10-30 million births
Deaths N/A


Congenital absence of the penis




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Aphallia is a rare congenital condition characterized by the absence of the penis in individuals with a male karyotype. It is a type of genital anomaly that occurs during fetal development. This condition is extremely rare, with only a few cases reported in medical literature.

Etiology[edit]

Aphallia results from a failure in the development of the genital tubercle during the early stages of embryogenesis. The genital tubercle is a precursor to the penis in males and the clitoris in females. The exact cause of this developmental failure is not well understood, but it is believed to involve complex genetic and environmental factors.

Clinical Presentation[edit]

Individuals with aphallia typically present with:

Diagnosis[edit]

Diagnosis of aphallia is usually made at birth based on the physical examination. Further evaluation may include:

Management[edit]

Management of aphallia involves a multidisciplinary approach, including:

Prognosis[edit]

The prognosis for individuals with aphallia varies depending on the presence of other anomalies and the success of surgical interventions. With appropriate management, individuals can lead fulfilling lives, although they may face challenges related to fertility and sexual function.

Related pages[edit]

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