Female Pseudohermaphrodism: A Description of 2 Unusual Cases

Perloff, William H.; Conger, Kyril B.; Levy, Lester M.

doi:10.1210/jcem-13-7-783

Cited by 58 publications

(8 citation statements)

References 3 publications

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“…In addition, skeletal anomalies such as talipes equinovarus, vertebral defects, and sacral agenesis have been documented in certain cases [7]. Perloff et al [9] reported this clinical entity in 1953, and it has subsequently been termed female pseudohermaphroditism with caudal dyplasia. No single etiologic explanation has yet been determined, and this is reflected in the broad spectrum of anomalies documented.…”

Section: Discussionmentioning

confidence: 99%

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

Macarthur

Mahomed

2006

Journal of Pediatric Surgery

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Section: Discussionmentioning

confidence: 99%

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

Macarthur

Mahomed

2006

Journal of Pediatric Surgery

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“…Female pseudohermaphroditism (FPH) may be defined as a male external appearance accompanying a normal female karyotype. Following the report by Perloff et al [1953], several additional publications described a distinct form of FPH associated with malformations of the internal genital, urinary, and gastrointestinal tracts [Carpentier and Potter, 1959;Lubinsky, 1980;Hokamp and Muller, 1983;Robinson and Tross, 19841. These defects included atresia or duplication of the uterus and vagina, fistulas between the urinary and gastrointestinal and genital tracts, urethral stenosis or atresia, and various skeletal anomalies including vertebral and radial defects.…”

Section: Introductionmentioning

confidence: 98%

Female pseudohermaphroditism with multiple caudal anomalies: Absence of Y‐specific DNA sequences as pathogenetic factors

1994

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46,XX female pseudohermaphrodites have been previously described with nearly complete masculinization of the external genitalia and no apparent source of testosterone. Multiple malformations of internal genital, urinary, and gastrointestinal tracts are associated. We have evaluated four such infants with female pseudohermaphroditism and multiple caudal anomalies. Three cases had apparently normal chromosomes (46,XX); one had a 46,XX,del(10)(q25.3-->qter) chromosome constitution. The chromosome breakpoint is in the region of PAX2, a developmentally important paired box gene which is expressed in urogenital tissue. Using the polymerase chain reaction, we screened for the presence of multiple Y specific sequences, including SRY (sex determining region, Y chromosome), that could explain masculinization of the external genitalia. All were negative for Y centromeric sequences, ZFY (Zinc finger Y), and SRY. Furthermore, there was no evidence for adrenal or other sources of testosterone. We suggest that the masculinization in these cases is the result of abnormal expression of genes which would normally be regulated by testosterone.

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“…As a rule urethra and vagina share a common external orifice, but separate openings are present in a number of cases. I n four cases a penile urethra was found, ending at the tip of a penis-like clitoris: furthermore in all these cases there was a communication between urethra and vagina (4,9,14).…”

Section: Discussionmentioning

confidence: 87%

“…The case described by Perloff ef al. (14) had a normal twin which casts doubt on the hypothesis of hormonal or other influences from the mother. Howard & Hinman (9) regard the abnormality as a localised developmental failure, with delayed union between the distal ends of the Miillerian ducts and the urogenital sinus, which in turn leads to the development of the phallus in a masculine manner.…”

Section: Discussionmentioning

confidence: 99%

Female Non‐Adrenal Pseudohermaphroditism

Nilsson

Söderhjelm

1958

Acta Paediatrica

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The simplest classification of the condition of ambisexual differentiation is based on gonadal type. In the case of male pseudohermaphroditism the gonads are testes, in female pseudohermaphroditism ovaries, and in true hermaphroditism both structures are represented, often situated together in common glands, "ovotestes". Cases of gonadal dysgenesis may be considered as a fourth group ( 5 ) .Female pseudohermaphroditism is usually caused by congenital hyperplasia of the adrenal cortex with a marked increase in the secretion of androgenic substances (1 7). Arrhenoblastoma during pregnancy has been described as resulting in pseudohermaphroditism in a female foetus (17). Female pseudohermaphroditism has recently been reported in children whose mothers received testosterone treatment during the first months of pregnancy (6, 8). The occurrence of the condition in the absence of adrenal cortex hyperplasia or other. demonstrable hormonal influence is rare. About 20 such cases have been published ( 3 , 3, 9, 10, 13, 14, 17).We have recently observed a case of this type, presented briefly as follows:First-born child to unmarried mother. Birth weight 3040 g. Family history revealed nothing relevant. Mother was anaemic during pregnancy. Normal, full-term delivery.Genital malformation was noted with enlarged phallus, behind which a small orifice was present. The labia were fused and showed traces of scrota1 creases bilaterally (Figs. 1,2). The uro-genital opening was too small t o permit instrumental examination, but X-ray following the injection of contrast substance revealed a "male" urethralike outlet, which divided cranially into one duct to the urinary bladder, and another which branched off dorsally a t right-angles to tha first and then continued cranially. This second duct terminated in a space corresponding to the vagina (Fig. 3) in the upper pole of which a thinning of the contrast in the shape of a cervical outline could be seen (Fig. 4).The findings indicated a case of virilism of the external genitalia. Urinary 17-ketosteroids, however, were found to be 0.43 mg/24 hours at the age of one week. A follow-42 -583606 Acta Pzdiatrica Vol. 47

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Female Pseudohermaphrodism: A Description of 2 Unusual Cases

Cited by 58 publications

References 3 publications

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

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

Female pseudohermaphroditism with multiple caudal anomalies: Absence of Y‐specific DNA sequences as pathogenetic factors

Female Non‐Adrenal Pseudohermaphroditism

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