Congenital absence of the penis (aphallia)

Qiang, Shuai; Li, Feng Yong; Zhou, Yu; Yuan, Yu-Jing; Li, Qiang

doi:10.1097/md.0000000000015129

Cited by 11 publications

(27 citation statements)

References 14 publications

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“…Two pieces of literature examine a more specific candidate gene. However, Qiang et al (2019) found chromosome 9 heterochromatin (9 qh +) was responsible for the protective function and regulation of hereditary diseases and susceptibility to congenital disease from the father of aphallia's patients (Qiang et al, 2019). Consistently Luo study showed that congenital aphallia is associated with congenital urethrorectal fistula which is regulated by the same chromosome (Luo et al, 2022) Another examination to identify male fertility is whether there is a deletion or not on the Y chromosome that causes significant failure of spermatogenesis.…”

Section: Discussionmentioning

confidence: 94%

Adult Patients with Aphallia: Were they Fertile?

Sisca¹,

Pakpahan²,

Rezano³

et al. 2022

OnLine Journal of Biological Sciences

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Adult male genotype and phenotype with aphallia are men born without a penis. The effectiveness of male sex assignment or female sex reassignment as a treatment for aphallia has been debated. The study's goal was to address the gonadal existence and supporting investigation related to the reproductive health care of reported cases of aphallia patients such as karyotyping, physical examination, semen analysis, hormone reproduction level, sperm retrieval, radiological investigation type of intervention. In this narrative review, data were obtained from Pubmed and Google Scholar that contains keywords "absence penis", "penile agenesis", "phalloplasty" "fertility function". We excluded pediatric patients with aphallia or adult patients with aphallia that reassignments to be female. Only five of the case reports were adult patients with aphallia that reported their fertility function and remains the gonadal existence. All samples have fertility potential disregard their aphallia based on primary testicular function, semen analysis, hormonal profile radiological investigation. Radiology supporting to the investigation of fertility function has aimed to detect genitourinary anomaly related to the site of urinary meatus associated with death rate. Four patients showed post sphincteric meatus urinary and one patient was presphincteric meatus urinary. Gonadal existence is addressed in the case report. This report suggested that sex assignment on aphallia patients should be considered based on the gonadal existence because even though they do not have a penis, they can have children through assisted reproductive technology provided that their phenotype and genotype are matched.

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Section: Discussionmentioning

confidence: 94%

Adult Patients with Aphallia: Were they Fertile?

Sisca¹,

Pakpahan²,

Rezano³

et al. 2022

OnLine Journal of Biological Sciences

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“…Nevertheless, an increasing number of hereditary diseases or susceptibility to congenital diseases, especially urogenital malformations, have been frequently reported to be associated with these variants. [9][10][11] Both father and sons in this case possessed 9qh+.…”

Section: Discussionmentioning

confidence: 99%

“… [8] It exists in all eukaryotic chromosomes and usually lies in regions with fewer genes, such as the centromeres. [9] Heterochromatin variants are believed to be clinically insignificant variations in human karyotypes, including different length patterns for heterochromatin blocks, which are marked as qh+/qh−, or pericentric inversion. Nevertheless, an increasing number of hereditary diseases or susceptibility to congenital diseases, especially urogenital malformations, have been frequently reported to be associated with these variants.…”

Section: Discussionmentioning

confidence: 99%

Congenital aphallia associated with congenital urethrorectal fistula

Luo¹,

Yang²,

Ma³

et al. 2022

Medicine

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Rationale:Aphallia is an extremely rare congenital malformation of unknown cause, with few reports in the literature. It is usually associated with other urogenital and gastrointestinal anomalies and is believed to be a result of either the absence of a genital tubercle or chromosome polymorphism. Herein, we describe an extremely rare case of congenital aphallia with congenital urethrorectal fistula and describe our treatment for this patient.Patient concerns:An 8-year-old boy was brought to our hospital by his parents because of congenital absence of the penis. The child was male per karyotype and had excess heterochromatin on chromosome 9 (46 XY with 9 qh+). No urethral orifice was identified, and urine passed rectally since birth; thus, urinary tract outlet obstruction led to urine reflux from the anus to the epididymis for a long time. The boy had to be placed on prophylactic antibiotics because he developed urinary tract infection and epididymitis almost every day.Diagnosis:Congenital aphallia (46 XY normal male karyotype) associated with congenital urethroretal fistula.Interventions:We performed urethral exteriorization via perineal urethroplasty and urethrorectal fistula repair. The parents approved for phallic reconstruction when the boy reached puberty.Outcome:A new external urethral orifice was created on the lower scrotum. The urinary reflux was corrected, and the epididymitis symptoms disappeared. The urethral fistula was then closed. At 8 months follow up, the patient was no longer on antibiotics and had no symptoms of urinary tract infection or epididymitis.Conclusions:Compatible treatment should be adopted to address urinary tract drainage and infection. Management requires a stepwise approach to address needs as they arise. Neophalloplasty should be performed by an experienced team in early adolescence.

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“…Diagnosis of aphallia includes the absence of the phallus, male karyotype, and normally developed scrotum and normal and frequently undescended testicles [ 4 ]. It should be differentiated from concealed penis, epispadias, hypospadias, micropenis, rudimentary penis, intrauterine amputation of the penis, and disorders of sexual development [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

A New Presentation: Aphallia, Vesicoureteral Reflux, Rectovesical Fistula, and Adrenal Insufficiency

Qadiry

Lalaoui

Nassih

et al. 2020

Case Reports in Pediatrics

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Aphallia or penile agenesis is a rare congenital malformation with an estimated incidence rate of 1 in 10 to 30 million births. More than half of aphallia cases have associated anomalies including caudal axis, cardiovascular, genitourinary, and gastrointestinal anomalies. The penile agenesis associated with adrenal insufficiency has never been reported in an infant. We report a rare case of a newborn that was diagnosed as a case of aphallia with vesicorectal fistula and vesicoureteral reflux, complicated by adrenal insufficiency with salt-wasting crisis.

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Congenital absence of the penis (aphallia)

Cited by 11 publications

References 14 publications

Adult Patients with Aphallia: Were they Fertile?

Adult Patients with Aphallia: Were they Fertile?

Congenital aphallia associated with congenital urethrorectal fistula

A New Presentation: Aphallia, Vesicoureteral Reflux, Rectovesical Fistula, and Adrenal Insufficiency

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