Pure XX gonadal dysgenesis in identical twins
| Autor: | Ronald Youlton, Cecilia Be, Michelsen H, Ricardo Cruz-Coke |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
endocrine system medicine.medical_specialty X Chromosome Younger sister XX gonadal dysgenesis Gonadal dysgenesis Genes Recessive Biology Gonadal Dysgenesis Pregnancy Internal medicine Follicular phase Diseases in Twins Genetics medicine Humans Genetics (clinical) business.industry Obstetrics and Gynecology Karyotype General Medicine Twins Monozygotic medicine.disease Pedigree Endocrinology Karyotyping Female Amenorrhea Follicle Stimulating Hormone medicine.symptom business Identical twins Pure gonadal dysgenesis |
| Zdroj: | Clinical Genetics. 21:262-265 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1982.tb00760.x |
| Popis: | Pure gonadal dysgenesis has been described in several sibships. We report a pair of monozygous twins and their younger sister with secondary amenorrhea. They had no associated congenital anomalies. Plasma FSH levels were elevated and the ovarian biopsies showed absence of follicular structures. Their karyotypes were 46XX, further supporting the concept that this form of familial gonadal dysgenesis is an autosomal recessive defect. |
| Databáze: | OpenAIRE |
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