Vaginal and Phallic Urethra with Prominent Clitoris in Female Pseudohermaphroditism

Abstract

Idiopathic female pseudohermaphroditism associated with a vaginal urethra, prominent clitoris and an accessory phallic urethra is a rare syndrome, with no apparent cause to account for the masculinization of the genitalia and exhibit of similar characteristic features. We report such a case and review the pertinent literature.

Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca

“…Less frequently reported are 46,XX female pseudohermaphrodites with normal testosterone and complete androgenization of the external genitalia. A distinct form of this condition is associated with malformations of the internal genital, urinary, and gastrointestinal systems [5][6][7][8]. In addition, skeletal anomalies such as talipes equinovarus, vertebral defects, and sacral agenesis have been documented in certain cases [7].…”

Idiopathic female pseudohermaphroditism with urethral duplication and female hypospadias

“…The idiopathic group, as in our case, consists of similar conditions with distinct features including clitoral hypertrophy, clitoral urethral duplication, hypospadiac vaginal urethra, partial labial fusion and bladder outlet obstruction 1. Though children in this group have clitoral hypertrophy, other features of masculinisation are absent, as the pathology is attributed to a local rather than a systemic or endocrine cause.…”

Atypical female intersex

“…(1975) and Thiry et al . (1979); the last two groups of authors claimed theirs to be the 4th and 5th instance in literature but Bellinger & Duckett (1982) and Kounami et al . (1986) recently analysed 19 cases including their own.…”

“…The simple idiopathic group comprises a range of urogenital anomalies and degrees of phallic differentiation (Kounami et al . 1986).…”

“…The megalourethra is the result of abnormal development of the phallus, but there is controversy about the fibre‐elastic cylinders (Belis & Hrabovsky 1979; Huben et al . 1981; Kounami et al . 1986).…”