Penile agenesis: A report of six cases

Oesch, I; Pintér, Andrew; Ransley, P. G.

doi:10.1016/s0022-3468(87)80441-4

Cited by 40 publications

(14 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The karyotype is usually 46,XY, although Soderdahl et al [1972] published a report of two cases with a predominantly 46,XY cell line but with four cells and one cell, respectively, with a 47,XXY karyotype. Exposures to potential teratogens, including estrogen/ progesterone [Choudhury and Maji, 1993], etretinate [Martinez Tallo et al, 1989], carbamazepine [Oesch et al, 1987], alcohol (our patient 2), and maternal diabetes (our patient 4) have been noted. Skoog and Belman [1989] classified cases into postsphincteric, presphincteric, and urethral atresia on the basis of the urethral opening and noted that the incidence of associated malformations varied between these classes.…”

Section: Discussionmentioning

confidence: 80%

“…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%

See 1 more Smart Citation

Agenesis of the penis: Patterns of associated malformations

et al. 1999

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 80%

Section: Materials and Methods: Analysis Of Associated Malformationsmentioning

confidence: 99%

Agenesis of the penis: Patterns of associated malformations

et al. 1999

View full text Add to dashboard Cite

show abstract

“…In its classic presentation, aphallia includes 46 XY karyotype, complete absence of the penis with urethra opening at any point on the perineum in midline, a normal scrotum, normal and frequently undescended testis [9]. The differential diagnosis of aphallia includes rudimentary penis, micropenis, concealed penis, intrauterine amputation of penis epispadias, hypospadias and pseudo hermaphroditism [5,11,12]. Aphallia may also be present as a component of a more severe complex malformation syndrome that includes the perineal area, such as sirenomelia, cloacal exstrophy or the urorectal septum malformation sequence [13].…”

Section: Discussionmentioning

confidence: 99%

Aphallia (Penile agenesis): A preliminary report of three cases

Patil¹,

Gupta²,

Sandlas³

et al. 2017

PUCR

View full text Add to dashboard Cite

A B S T R A C TAphallia (penile agenesis) is an extremely rare abnormality with the reported incidence of 1 in 30 million births. The cause of this anomaly is associated with no genital tubercle formation or its development impairment. The majority of patients have 46XY Karyotype. The scrotum, testes and testicular function are usually normal. We report the preliminary experience with 3 cases of aphallia in different age groups along with a review of the literature.

show abstract

“…The poor psychological outcome in patients who were raised as boys strongly reinforces this concept. The surgical difficulties and poor result encountered in phallic reconstruction have prompted female sex assignment [3]. Early sex reassignment in the neonatal period is ideal as gender awareness begins around 18 months after birth and is well-established in most children by the time they are 2.5 years old.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, sex reassignment in the neonatal period with early orchidectomy may have the advantage of preventing the postnatal testosterone surge and central nervous system testosterone imprinting which are important to subsequent gender identity [3].…”

Section: Discussionmentioning

confidence: 99%