Congenital Absence of the Penis

Johnston, W. G.; Yeatman, Gentry W.; Weigel, John W.

doi:10.1016/s0022-5347(17)58515-8

Cited by 22 publications

(4 citation statements)

References 7 publications

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“…In the patients with penile agenesis, it varied from neonatal age to 3.9 years. While the only patient with manifest gender change happened to have a history of very late orchidectomy, other cases with definite (Johnston et al, 1977) or probable (Pohlandt, Kühn, Teller, & Thomä, 1974) late orchidectomy did not change gender or show gender dysphoria ( Table I). All of the female-reassigned cases of penile ablation (Table V) experienced gonadal loss after the period of the neonatal testosterone surge; nevertheless, most lived as females.…”

Section: Discussionmentioning

confidence: 99%

“…Why, then, do some of these patients change gender and others do not? Many urological investigators appear to believe that the welldocumented neonatal testosterone surge in normal 46,XY males from about the second week of life after a fullterm birth through about the fifth or sixth month of age plays a role in the development of male gender identity and, therefore, emphasize the importance of early orchidectomy to prevent androgen "imprinting" of the brain in female-assigned patients (e.g., Ciftci, Ş enocak, & Büyükpamukçu, 1995;Johnston, Yeatman, & Weigel, 1977;Oesch, Pinter, & Ransley, 1987;Stolar et al, 1987). In the published data reviewed here, the timing of orchidectomy was highly variable.…”

Section: Discussionmentioning

confidence: 99%

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Gender Identity Outcome in Female-Raised 46,XY Persons with Penile Agenesis, Cloacal Exstrophy of the Bladder, or Penile Ablation

Meyer‐Bahlburg

2005

Arch Sex Behav

226

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This review addresses the long-term gender outcome of gender assignment of persons with intersexuality and related conditions. The gender assignment to female of 46,XY newborns with severe genital abnormalities despite a presumably normal-male prenatal sex-hormone milieu is highly controversial because of variations in assumptions about the role of biological factors in gender identity formation. This article presents a literature review of gender outcome in three pertinent conditions (penile agenesis, cloacal exstrophy of the bladder, and penile ablation) in infancy or early childhood. The findings clearly indicate an increased risk of later patient-initiated gender re-assignment to male after female assignment in infancy or early childhood, but are nevertheless incompatible with the notion of a full determination of core gender identity by prenatal androgens.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Gender Identity Outcome in Female-Raised 46,XY Persons with Penile Agenesis, Cloacal Exstrophy of the Bladder, or Penile Ablation

Meyer‐Bahlburg

2005

Arch Sex Behav

226

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“… [5] These abnormalities, including renal agenesis or dysplasia, vesicoureteral reflux, cryptorchidism, tracheoesophageal fistula, and ventricular septal defect, usually affect other systems and are present in >50% of cases (Table 1 ). [ 6 , 7 ]…”

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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“…Of the remaining 57 cases,-55 from the literature [Goeschler, 1829, described in Harris, 1898Collier, 1889;Rauber, 1890, described in Harris, 1898Harris, 1898;Roy, 1932;Drury and Schwarzell, 1935;Rukstinat and Hasterlik, 1939;McCrea, 1942;Lal, 1943;Gillies and Harrison, 1948;Bernardinelli et al, 1953;Haller et al, 1957;Richart and Benirschke, 1960;Attie, 1961;Hanafy et al, 1962;Carter et al, 1968;Azpiroz, 1971;Farah and Reno, 1972;Soderdahl et al, 1972;Antony and Chandrasekhara, 1973;Kessler and McLaughlin, 1973;Lisa et al, 1973;Rosenblum and Turner, 1973;Vera-Roman, 1973;Praharaj et al, 1976;Johnston et al, 1977;Koffler et al, 1978;Gautier et al, 1981;Roth et al, 1981;Berry et al, 1984;Gü rses et al, 1987;Oesch et al, 1987;Stolar et al, 1987;Dusmet et al, 1988;Kothare et al, 1988;Talwar and Kapoor, 1988;Martinez Tallo et al, 1989;Skoog and Belman, 1989;Gilbert et al, 1990;…”

Section: Materials and Methods: Analysis Of Associated Malformationsmentioning

confidence: 99%

Agenesis of the penis: Patterns of associated malformations

et al. 1999

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Agenesis of the penis is a rare malformation that occurs in otherwise normal males or together with other anomalies. In this article, we document unusual patterns of malformations in four such infants and analyze the nature and incidence of defects in 57 cases by clinical evaluation and numerical classification techniques. Although patients with this condition previously have been divided into groups based on the position of the urethral meatus in relation to the anus (presphincteric, postsphincteric, urethral atresia), our analyses suggest that most cases can be classified into either a severe form (16%) with renal aplasia or dysplasia and other caudal anomalies or a second group (72%) with low mortality and fewer additional malformations. The remaining cases in our group represented unique patterns stemming from a variety of causes, including etretinate embryopathy and the human homologue of the disorganization mutation. Agenesis of the penis occurs as a consequence of single gene disorders, teratogenic effects, or malformation sequences and associations and in unrecognized patterns of anomalies. It thus should be considered a developmental field defect. Its concurrence with scrotal hypoplasia, absent raphe, and anal anomalies implies a major disturbance of the caudal mesoderm. In such cases, severe renal defects are usually seen, and the prognosis is poor. When the patient has a patent urethra and normal scrotum, raphe, and testes, however, penile agenesis may be a localized malformation of the genital tubercle potentially related to penoscrotal transposition, a phylogenetic anomaly that is the normal genital arrangement in male marsupials, rabbits, and certain other mammals. Infants with isolated penile agenesis have generally done well. In the past, many were not treated; however, current recommendations are to use appropriate surgical and endocrine techniques to reassign female gender and enhance sexual and psychosocial functioning, though this approach is the subject of controversy.

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Congenital Absence of the Penis

Cited by 22 publications

References 7 publications

Gender Identity Outcome in Female-Raised 46,XY Persons with Penile Agenesis, Cloacal Exstrophy of the Bladder, or Penile Ablation

Gender Identity Outcome in Female-Raised 46,XY Persons with Penile Agenesis, Cloacal Exstrophy of the Bladder, or Penile Ablation

Congenital aphallia associated with congenital urethrorectal fistula

Agenesis of the penis: Patterns of associated malformations

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