Congenital Aphallia: Review of Pathogenesis and Current Treatment Guidelines

Joshi, Atul; Gross, Jody; Thomalla, J. Vincent

doi:10.1016/j.urology.2015.04.031

Cited by 19 publications

(33 citation statements)

References 11 publications

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“…In our case, there may be a disturbed signal transduction system during gestation. However, Joshi et al [10] holds that, in most instances, the karyotype is 46,XY with a normal constellation of sex hormones, as the pituitary gonadal axis is intact. Cases of ectopic urethral openings were thought to represent the total absence of the genital tubercle.…”

Section: Discussionmentioning

confidence: 99%

“…Current thinking does not predicate the final labeling, and the morphology of the external genitalia will assume the most important feature and might be contradictory to gonadal or genetic sex. [10] Earlier reports concerning the management of aphallia had advocated phalloplasty; however, the majority of authors recommend unequivocal assignment of the female gender at birth. [17]…”

Section: Discussionmentioning

confidence: 99%

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Congenital absence of the penis (aphallia)

Qiang

Zhou

et al. 2019

Medicine

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Rationale: Absence of the penis, known as aphallia, is a very rare congenital anomaly. It is believed to be a result of either the absence of the genital tubercle or its failure to fully develop and is associated with the level of hormones and chromosomal rearrangements. The failure of the genital tubercle influences the development of the penis and partly depends upon testosterone secreted by Leydig cells of the testis. Chromosomal polymorphisms may affect the functions of protection and regulation, potentially leading to susceptibility to congenital diseases. Herein, an extremely rare case of a congenital absence of the penis is described. Patient concerns: A 3-month-old was brought to the OPD by his parents with complaints of absence of penis since birth and urine being passed rectally. When he was born, he was registered as a boy because his chromosomes were 46XY but with 9qh+. Local examination revealed the total absence of the penis. The scrotum was well developed. The testes were palpable bilaterally. The anal opening was located normally. No urethral orifice could be identified. However, his parents had not yet decided whether to accept treatment. The child has been lost to follow up. Diagnosis: Congenital absence of the penis (aphallia) (46 XY normal male karyotype). Interventions: We explained the nature of the abnormality and management options to the parents. However, it was much regretted that the patient was too young to make a decision and that his parents had not made a decision yet. They left without any further contact. Outcome: Because the parents left our hospital without any contact, it has not been possible to develop a follow-up plan. Lessons: In consideration of the rarity and devastating psychosocial consequences of this case, we accordingly call for active cooperation with doctors to minimize the negative impact of this malformation. Early assignment of gender avoids confusion and contradiction. Parental confidence solidifies the child's own confidence in his or her gender.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Congenital absence of the penis (aphallia)

Qiang

Zhou

et al. 2019

Medicine

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“…En algunas series se ha reportado una asociación tan alta como 50% con otras malformaciones congénitas urogenitales: criptorquidia, agenesia renal, displasia, riñón poliquístico, riñón en herradura, agenesia prostática y de la vejiga, hidronefrosis, reflujo vesicoureteral, agenesia ureteral, hidrouréter, fístulas uretrorrectales y vesicorrectales, vejiga poliquística y riñón ectópico pélvico. 5,7,[11][12][13][14][15][16][17][18][19][20] Está descrita la asociación con otras malformaciones congénitas, como: siringomielia, espina bífida, asociación VATER, hepatomegalia, páncreas anular, insuficiencia tricuspídea, persistencia del conducto arterioso, anormalidades gastrointestinales, síndrome de abdomen de ciruela, síndrome de Potter, síndrome de Treacher Collins, retraso mental, ano imperforado, defectos musculoesqueléticos y pie equino varo. 5,7,12,[17][18][19][20]…”

Section: Fisiopatogeniaunclassified

“…5,7,[11][12][13][14][15][16][17][18][19][20] Está descrita la asociación con otras malformaciones congénitas, como: siringomielia, espina bífida, asociación VATER, hepatomegalia, páncreas anular, insuficiencia tricuspídea, persistencia del conducto arterioso, anormalidades gastrointestinales, síndrome de abdomen de ciruela, síndrome de Potter, síndrome de Treacher Collins, retraso mental, ano imperforado, defectos musculoesqueléticos y pie equino varo. 5,7,12,[17][18][19][20]…”

Section: Fisiopatogeniaunclassified

Afalia congénita: reporte de un caso y revisión de la bibliografía; de la patogenia a la reconstrucción fálica

Córdova¹

2017

rmu

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ANTECEDENTES: la afalia congénita es una enfermedad excepcional, asociada con malformaciones musculoesqueléticas y cardiovasculares.CASO CLÍNICO: recién nacido con diagnóstico de afalia congénita, pretérmino de 33.4 semanas de gestación, adecuado peso para la edad gestacional, con un soplo sistólico multifocal, con ausencia de pene y uretra, ano imperforado, fístula uretrocutánea perianal, con gasto de orina clara a través de ésta. Al segundo día de nacido se realizó una colostomía, fístula mucosa y se colocó un catéter venoso central. Posteriormente se comentó con los padres la necesidad de una cistotomía, que fue rechazada.DISCUSIÓN: la limitación más importante al momento de la reconstrucción del pene es que no existe un sustituto para el tejido eréctil; por lo tanto, el neo-falo debe de ser satisfactorio en el aspecto estético, funcional y psicológico.PALABRAS CLAVE: afalia, reconstrucción de pene, malformación genitourinaria.

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“…Агенезия полового члена (афаллия) -это редкий врожденный порок, характеризующийся полным отсутствием полового члена у ребенка с мужским кариотипом (46XY), в литературе описано около 100 случаев афаллии [1]. Частоту встречаемости данного врожденного порока оценивают как 1 случай на 20-30 млн рождений [2,3]. Долгое время считалось, что при афаллии предпочтительно назначение женского пола в связи с более простой хирургической реконструкцией [4].…”

Section: Introductionunclassified

De Castro falloplasty of the with penile agenesis

Kagantsov

Dubrov

Игоревич³

et al. 2021

Russian Journal of Pediatric Surgery, Anesthesia and Intensive

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Introduction. Penile agenesis (aphallia) is an extremely rare congenital disorder. At present, about 100 cases of the anomaly have been described around the world. The incidence of this congenital anomaly is estimated to be one case per 2030 million births. One of the most commonly used reconstructive procedures today is the technique proposed by Roberto De Castro in 2007. In this article, we present a clinical case of aphallia in a boy who underwent phalloplasty. Materials and methods. A newborn boy presented with aphallia, combined with abnormal development of both kidneys. At birth, the child had difficult urination through the fistula at the edge of the anus. The meatotomy and urethral dilation were performed on the fifth day of the infant`s life. On day 28 of the child`s life, surgical intervention was performed to remove the left non-functioning kidney and a right cutaneous ureterostomy because of the recurrence of febrile urinary tract infection. At 13 months, the tissue expander was installed above the pubic bone. At 16 months, the child underwent the De Castro phalloplasty technique while in the supine position. Results. The child was examined 3, 6, and 12 months after the surgical treatment. Phalloplasty has had good outcomes as evaluated by parents and surgeons. At present, the boy is under the supervision of urologists, who plan to perform further surgical treatment of the urinary system. Conclusion. Phalloplasty, in the case presented, had a good cosmetic result. In our opinion, it proved to be the correct initial stage of treatment for aphallia, an extremely rare genital malformation.

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Congenital Aphallia: Review of Pathogenesis and Current Treatment Guidelines

Cited by 19 publications

References 11 publications

Congenital absence of the penis (aphallia)

Congenital absence of the penis (aphallia)

Afalia congénita: reporte de un caso y revisión de la bibliografía; de la patogenia a la reconstrucción fálica

De Castro falloplasty of the with penile agenesis

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