Pseudovaginal perineoscrotal hypospadias (PPSH) is a descriptive name applied to a specific developmental disorder of sexual development in males. Incomplete masculinization of the external genitals of affected individuals-essentially the only abnormal feature of the syndrome-results in varying degrees of genital ambiguity. Testes are present, however, and generalized virilization occurs at puberty, emphasizing the importance of accurate diagnosis early in life. Our report of three affected sibs born to related parents appears to confirm earlier suggestions that PPSH is a genetic disorder, transmitted in autosomal recessive fashion.

Adult↗

PubMed1971

Abnormalities of human autosomes. I. Ambigous genitalia associated with a translocation 46,XY, t(Cq+;Cq-).

Ambiguity of the external genitalia, along with other milder developmental defects, occurred in a boy with an autosomal aberration, translocation between long arms of two of the shorter members of Group C. The case raises the possibility of a specific effect on development of the external genitalia of autosomal loci and emphasizes that pseudohermaphroditism can on occasion result from autosomal abberations.

Acetabulum↗

PubMed1971

Bilateral anorchia: discordance in monozygotic twins.

The bilateral absence of testes is described in one of two otherwise healthy and well-developed 12-year-old identical twin boys. The twins' father has only one palpable testis. The occurrence of complete anorchia in only one of otherwise identical twins constitutes relevant new data for considering the etiology of this rare condition and in assaying the role of the testis in growth and development between birth and puberty.

Body Height↗

PubMed1971

Progressive idiopathic clitoral hypertrophy in a child: a previously undescribed type of female pseudohermaphroditism.

Progressive idiopathic masculinization of the clitoris was observed between the ages of 13 and 30 months in a healthy girl, otherwise normally developed except for a patent ductus arteriosus.

17-Hydroxycorticosteroids↗

PubMed1971

Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data.

Although usually associated with an abnormal sex chromosomal complement, gonadal dysgenesis is occasionally detected in individuals having apparently normal male (46,XY) or female (46,XX) chromosomal complements. Six individuals with XY or XX gonadal dysgenesis, four proven, two probable, are described. A review of histologically verified cases of XX and XY gonadal dysgenesis reveals frequent familial aggregation of affected individuals, a situation rarely encountered in the more frequent X-monosomic gonadal dysgenesis. Multiple affected sibs and frequent X-monosomic gonadal dysgenesis. Multiple affected sibs and frequent parental consanguinity suggest that XX gonadal dysgenesis is an autosomal recessive condition, while certain families suggest that XY gonadal Dysgenesis is an X-linked recessive or male-limited autosomal dominant condition.

Adolescent↗

PubMed1971

Abnormalities of human sex chromosomes. II. Turner's syndrome associated with the mosaicism 45,X-46, XX-p.

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Adolescent↗

PubMed1971

Abnormalities of human sex chromosomes. 3. Duplication in the long arm of the Y chromosome (45,X-46,XYg+) in Y-gonadal dysgenesis.

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17-Hydroxycorticosteroids↗