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PubMed · 874721

Subcutaneous reduction clitoroplasty.

A Shaw
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Abstract

Congenital clitoral hypertrophy should be corrected in infancy. Most surgeons perform a total clitroectomy or one of several kinds of clitoral recession procedures. There are some reasons for dissatisfaction with both of these alternatives. An operation in which the corpora cavernosum are resected subcutaneously and the glans sutured to the pubis preserves blood supply and sensation and results in a perineal appearance close to normal. The author has performed this operation infive cases of clitoral hypertrophy associated with adrenogenital syndrome and suggests a wider trial of procedure.

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Adrenal Hyperplasia, CongenitalChild, PreschoolClitorisFemaleHumansInfantInfant, NewbornMethodsPsychologyTime FactorsJournal Article

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BibTeXRIS

A Shaw. 1977. Subcutaneous reduction clitoroplasty.. https://doi.org/10.1016/0022-3468(77)90009-4

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Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

Lesions in the gene encoding steroid 21-hydroxylase [steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate complete characterization of mutations in this region of tandemly repeated genes, we have developed selective PCR amplification and direct sequencing of full-length nonpseudogene steroid 21-hydroxylase genes. This technique identifies known mutations, characterizes or excludes unknown mutations, and determines the gene-copy number. Three additional defective alleles were found. A Gly-292----Ser mutation and a frameshift mutation at Arg-484 (GG----C) were identified in patients with severe steroid 21-hydroxylase deficiency. An allele with three additional sequence variations--C----T at 4 bases upstream of translation initiation, Pro-106----Leu, and Pro-454----Ser--were identified in two siblings with late-onset deficiency. Pro-454 is conserved in four species, indicating its importance for normal enzyme function. Functional consequences of individual alleles have been determined in vivo by studying individuals with only one steroid 21-hydroxylase gene. Detailed analyses of clinical data revealed that genotyping could predict the clinical course of the disease. The locations of disease-causing mutations on different haplotypes of the steroid 21-hydroxylase gene region are described.

Adrenal Hyperplasia, Congenital↗