Growth and ovarian function in girls with 48,XXXX karyotype--patient report and review of the literature
| Autor: | Karen Van Driessche, Marc V. L. Du Caju, Raoul Rooman |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Adult
endocrine system medicine.medical_specialty Pediatrics Endocrinology Diabetes and Metabolism media_common.quotation_subject Primary Ovarian Insufficiency Short stature Endocrinology Internal medicine medicine Humans Girl X chromosome Sex Chromosome Aberrations media_common Chromosomes Human X business.industry Dehydroepiandrosterone Sulfate Tall Stature Karyotype medicine.disease 48 XXXX Body Height Primary Ovarian Failure Karyotyping Pediatrics Perinatology and Child Health Female medicine.symptom Patient report business Metabolism Inborn Errors |
| Zdroj: | Journal of pediatric endocrinology and metabolism |
| ISSN: | 0334-018X |
| Popis: | The loss of an X chromosome results in short stature and often in primary ovarian failure, but the effect of extra X chromosomes is less clear, especially in 48,XXXX women. We report a girl with a 48,XXXX karyotype with tall stature (181.8 cm), primary ovarian failure and low DHEAS levels. A review of the literature shows that, apart from an intellectual deficit, the phenotype is very heterogeneous. The few data that are available in the literature indicate that tall stature and primary ovarian failure are not essential characteristics of the 48,XXXX phenotype. |
| Databáze: | OpenAIRE |
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