Female Epispadias

Schey, William L.; Kandel, Gerald L.; Charles, Allan G.

doi:10.1177/000992288001900307

Cited by 3 publications

(2 citation statements)

References 13 publications

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“…5 Whereas only one case report of an absent clitoris without other associated anomalies exists, 6 many case reports have associated absence or hypoplasia of the clitoris with various syndromes or other anomalies. [7][8][9][10][11][12][13][14][15][16][17][18][19][20] Though apparently a rare entity, absence of the clitoris can have important implications for child and adolescent health.…”

Section: Review Of the Literaturementioning

confidence: 99%

“…Some authors have proposed a link between it and the embryological events leading to bladder extrophy, with mild failure of midline fusion viewed as being the likely event causing absence of the clitoris. [15][16][17] This theory may be supported by the occasional presence of other subtle genital findings such as absence of midline pubic hair, a gaping urethral meatus or labia minora of various lengths. 16,17 Embryological causes of apparent absence of the clitoris can be summarized to be due to hypoplasia or to its more severe variant, agenesis.…”

Section: Review Of the Literaturementioning

confidence: 99%

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Absence of the Clitoris in a 13-Year-Old Adolescent: Medical Implications for Child and Adolescent Health

Bellemare

Dibden

2005

Journal of Pediatric and Adolescent Gynecology

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Section: Review Of the Literaturementioning

confidence: 99%

Section: Review Of the Literaturementioning

confidence: 99%

Absence of the Clitoris in a 13-Year-Old Adolescent: Medical Implications for Child and Adolescent Health

Bellemare

Dibden

2005

Journal of Pediatric and Adolescent Gynecology

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Disorganization in mice and humans and its relation to sporadic birth defects

et al. 1997

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Disorganization (Ds) is a mouse mutant best known for producing an exceptional variety of unusual developmental anomalies, such as mirror-limb duplications and hamartomatous skin papillae. So great is the range of malformations that no two affected mice are identical. Several patients with a similar variety of exceptional anomalies have been reported, raising the possibility of the existence of a human homologue of Ds. However, although these human cases represent the most striking findings seen in Ds mice, they do not represent the full range of defects. Most affected mice have only a single malformation, and most of these malformations are similar to both common (neural tube defects, orofacial clefting, gastroschisis, limb reductions) and rare (anophthalmia, duplicated rectum) human birth defects. It is therefore possible that the full spectrum of the human homologue of Ds includes not only patients with the unusual combination of anomalies but also common sporadic birth defects. We suggest that the low penetrance (approximately 0-30%) and highly variable expression of Ds make it a paradigm for understanding the genetic basis for many seemingly sporadic birth defects.

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Female epispadias: are we missing the diagnosis?

et al. 2004

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OBJECTIVETo describe three of four female patients with occult epispadias, as usually epispadias is reported to be a rare condition in females (1/480 000), and obvious and easy to diagnose, but less severe variants may still involve urethral sphincter incompetence in the absence of obvious clinical signs.PATIENTS AND METHODSThe hospital records over a 10‐year period (1 January 1991 to 31 December 2000) were reviewed to find all female patients diagnosed with epispadias. Data were collected from the Consultative Council on Obstetric and Paediatric Mortality and Morbidity for the number of live births per year for the decade studied, and the incidence of female epispadias determined.RESULTSOver the 10‐year period there were 13 patients with a diagnosis of epispadias, from 636 698 total live births; four were female and nine male. Each of the female patients had varying degrees of epispadias; three had subtle signs with apparently normal external genitalia, and only one had a bifid clitoris. However, even the most minor variant case had a palpable notch in the symphysis pubis, and an ‘oblong’ external urethral meatus. Thus the incidence of female epispadias is at least 1/160 000.CONCLUSIONEpispadias in females may be up to three times more common than previously expected, but even experienced clinicians can miss the diagnosis. The importance of a careful examination should be emphasized, especially in female patients with chronic wetting of unknown cause. A bifid clitoris is an important sign but not always present. Key diagnostic features include drug‐resistant wetting, a very low leak pressure on cystometrography, a palpable gap in the pubic symphysis and an abnormal oval‐shaped external urethral meatus.

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Female Epispadias

Cited by 3 publications

References 13 publications

Absence of the Clitoris in a 13-Year-Old Adolescent: Medical Implications for Child and Adolescent Health

Absence of the Clitoris in a 13-Year-Old Adolescent: Medical Implications for Child and Adolescent Health

Disorganization in mice and humans and its relation to sporadic birth defects

Female epispadias: are we missing the diagnosis?

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