Atypical aphallia

Coquet-Reinier, Benjamin; Merrot, Thierry; Chaumoître, Kathia; Alessandrini, P.

doi:10.1007/s00383-007-1912-z

Cited by 9 publications

(14 citation statements)

References 13 publications

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“…The HCG challenge test is necessary because it shows the presence of a functional testicle. Other studies about profile hormones found that testosterone, LH/FS, AMH, 17 hydroxyprogesterone, 4 androstenedione, inhibin B, Dihydrotestosterone (DHT), 5alpha-reductase androgen receptors within normal limits in aphallia (El-Qadiry et al, 2020;Bahe et al, 2016;Coquet-Reinier et al, 2007). The presence of all these hormones is like a fertile man, due to the presence of normal testicles like two patients in this review have a normal level of testosterone, prolactin, estradiol, LH FSH.…”

Section: Discussionmentioning

confidence: 59%

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: 59%

Adult Patients with Aphallia: Were they Fertile?

Sisca¹,

Pakpahan²,

Rezano³

et al. 2022

OnLine Journal of Biological Sciences

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“…B.C. Reiner et al, 2007 [ 28 ] Neonate, H-2, GA 39 weeks - Ambiguous genitalia • The physical examination demonstrated a well-developed male with a rudimentary genital bud (5 mm length). • The voiding cystography: Demonstrated bilateral grade II vesicoureteral reflux, normal bladder and posterior male urethra.…”

Section: Resultsmentioning

confidence: 99%

“…The majority of cases involve males with 97% (n:40) of all cases (1–3,7–29), and 2% (n:1) was female [ 2 ]. Of the 35 cases, the majority with 48% (n:20) cases were term neonates [ 2 , 3 , 8 – 12 , 14 , 17 , 18 , 21 , 22 , 25 , 28 , 30 , 33 ], while 19% (n:8) were preterm neonates [ 2 , 13 , 24 , 26 , 32 , 34 ], 9% (n:4) were infants [ 1 , 16 , 25 , 34 ], 9% (n:4) were under five [ 5 , 7 , 19 , 27 ],and 12% (n:5) were over 5 years old [ 6 , 15 , 23 , 29 , 31 ]. The patient with the lowest gestational age was 31 weeks [ 13 ], with the oldest patient ‘s age was 31 years old [ 23 ].…”

Section: Resultsmentioning

confidence: 99%

Aphallia - congenital absence of the penis: a systematic review

Yuri,

Yunir,

Utama

et al. 2024

BMC Urol

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Background Aphallia is a rare congenital anomaly often associated with other urogenital anomalies. The management of aphallia cases for both the immediate and long-term treatment of patients with aphallia pose a major dilemma. Patients are at risk for psychosocial and psychosexual challenges throughout life. Methods A systematic review was conducted on aphallia cases. We searched online databases until March 2023 for relevant articles and performed according to the PRISMA-P guidelines. Results Of the 43 articles screened, there were 33 articles included. A total of 41 patients were analyzed qualitatively. Asia is the region with the most aphallia cases with 53% (n:22), while the United States is the country with the most most reported aphallia cases 31% (n:13). Most cases were identified as male sex (n: 40), and most cases were neonate with 68% (n:28) cases. Physical examination generally found 85% (N = 35) with normal scrotal development and palpable testes. The most affected system with anomalies is the genitourinary system with fistulas in 80% (n:29) cases. Initial management in 39% (n:16) of patients involved vesicostomy. Further management of 31% (n:13) included phalloplasty or penile reconstruction, and 12% (n:5) chose female sex. 17% (n:7) of patients refused medical treatment or were lost to follow-up, and 12% (n = 5) patients deceased. Conclusion Aphallia is a rare condition and is often associated with other inherited genitourinary disorders. In most cases, physical examinations are normal except for the absence of a phallus, and laboratory testing shows normal results. The initial management typically involves the vesicostomy procedure. Subsequent management focuses on gender determination. Currently, male sex is preferred over female. Due to the significant variability, the rarity of cases, and the lack of long-term effect reporting in many studies on aphallia, further research is needed to minimize bias.

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“…Aphallia should be differentiated from concealed penis, rudimentary penis, micropenis, epispadias, hypospadias, intrauterine amputation of the phallus, and pseudohermaphroditism [10]. Diagnosis can be established by careful clinical examination, karyotyping, and radiologic investigations including cystography, and magnetic resonance imaging that can help in the anatomical interpretation of complex genital anomalies and can guide further management [11,12].…”

Section: Discussionmentioning

confidence: 98%