Phallic Urethra in Female Pseudohermaphroditism

Abstract

The presence of a urethra coursing through the phallus would seem to be evidence of maleness. However, certain female patients with intersexual external genitalia (female pseudohermaphrodites) have been observed either with a single urethra running through the clitoris or with this, plus a second urethra, emptying into the urogenital sinus. Recently, five cases of phallic urethra have been observed and the findings of one other unreported case has been studied. These will be presented and discussed in detail in order to point out the factors involved in differential diagnosis.The study of intersexuality would be more rewarding if it could be approached from an etiological standpoint. In any given case, however, exact etiologic factors cannot always be determined, but if consideration is given to each of the possible causes (developmental anomaly, fetal adrenal hyperplasia, and exogenous androgens) a reasonable basis can be constructed for diagnosis and treatment.Theoretically, intersexuality with a phallic urethra can occur in one of three ways :(1) by anomalous development, in which normal sequences of differentiation are blighted during early fetal life so that a combination of gross genital abnormalities occurs, among which may be a phallic urethra; (2) by fetal adrenal hyperactivity, in which the male components of the female external genitalia are stimulated to develop-

Penislike clitorises with megalourethras in nonvirilized female fetuses and a newborn. A histopathologic study and its bearing on their pathogenesis

“…In B, a newborn of 38 weeks of gestation (case 3) displays a very large 5-cmlong penislike clitoris (1) with a pinpoint urethral meatus (arrow). In C, the broad organ (1) of a fetus of 32.5 weeks of gestation (case 4) is flanked by labia majora (2). A narrow external meatus is obscured by a small prepuce (arrow).…”

“…In C and D, the megalourethra (1) has a scaphoid shape. It is associated with a pair of elongated straight corpora cavernosa (2) and, in C, a small glans clitoridis (finely dotted) anterior to the urethral meatus. In D, the megalourethra has a narrow urethral meatus (arrow) surrounded by a circular glans (finely dotted) and also a urethrocutaneous opening (small arrowhead).…”

“…The degree of masculinization of the external genitalia may vary from an enlarged clitoris to the rare case with a normally structured penis with a phallic urethra and a well-formed scrotum, albeit without testes [2,3].…”

“…This disorder is also characterized by maletype external genitalia, but in this category, most phallic structures are penislike, well-developed scrotums are uncommon, and the deformation is associated with other anomalies of the perineum. The penislike clitorises are occasionally part of a spectrum of multiple caudal anomalies that are considered to result from lower mesodermal defects [1,2,[5][6][7][8][9][10][11][12]. They are a consistent feature of accessory phallic urethra duplication [13][14][15][16][17][18][19][20][21][22][23] that was presumed to result from a temporary and regional masculinization during fetal development [14,17].…”

Clinical Variability of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

“…In our series this was particularly noticeable in the female, where complete masculinization of external genitalia was observed in the majority of cases. A review of the literature reveals that such extreme forms of female pseudoher maphroditism are rare events in CAH and have been reported only sporadically [27][28][29][30][31][32][33][34][35]. In most of these cases a defect in 21-hydroxylation was responsible for the virili zation, but 11 p-hydroxylase deficiency was the cause in at least 7 instances [30,31,[33][34][35].…”