Pseudohermaphroditism with testes and a 46, XX karyotype
| Autor: | R. Wilbois, G. S. Sekhon, Anthony S. Pagliara, Stephen C. Duck, Virginia V. Weldon |
|---|---|
| Rok vydání: | 1975 |
| Předmět: |
Male
Sex Determination Analysis medicine.medical_specialty Adolescent Mullerian Ducts Disorders of Sex Development Biology Clitoromegaly Hysterectomy Clitoris Müllerian mimicry Genotype-phenotype distinction Adrenal Cortex Hormones Age Determination by Skeleton Internal medicine Testis Chromosomes Human 21-22 and Y medicine Humans Testosterone Pseudohermaphroditism Estrogens Conjugated (USP) Autosome Virilization Chromosome Mapping Leydig Cells Karyotype Genitalia Female medicine.disease Phenotype Endocrinology Sex Chromatin Karyotyping Pediatrics Perinatology and Child Health Female medicine.symptom Gonadotropins |
| Zdroj: | The Journal of Pediatrics. 87:58-62 |
| ISSN: | 0022-3476 |
| Popis: | A 14 4/12-year-old white girl, evaluated for progressive virilization and clitoromegaly, was found to have the unusual combination of a 46, XX karyotype, well-developed Mullerian structures, and dysgenetic testes with Leydig cell hyperplasia. Although there have been previous case reports of 46, XX males, in all of these patients development of the Mullerian ducts had been suppressed. When contemporary classifications of human disorders of sexual differentation were reviewed, no report of a similar patient was found. We speculate that the genotype and phenotype in our patient correspond to the genetic intersexuality of the hornless goat, thereby raising the possibility that the human autosome may play a role in the control of sexual development. |
| Databáze: | OpenAIRE |
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