Primary hypogonadism and partial alopecia in three sibs with Müllerian hypoplasia in the affected females
| Autor: | S. A. Al-Awadi, T. I. Farag, A. S. Teebi, K. Naguib, M. Y. El-Khalifa, Y. Kelani, A. Al-Ansari, R. N. Schimke, John M. Opitz, James F. Reynolds |
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| Rok vydání: | 1985 |
| Předmět: |
Adult
Male Internal genitalia congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Müllerian mimicry Sertoli cell-only syndrome Internal medicine medicine Humans Fallopian Tubes Genetics (clinical) integumentary system Autosomal recessive inheritance business.industry Hypogonadism Ovary Uterus Alopecia medicine.disease Hypoplasia Pedigree Germ Cells medicine.anatomical_structure Endocrinology Primary hypogonadism Scalp Female business |
| Zdroj: | American Journal of Medical Genetics. 22:619-622 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320220322 |
| Popis: | We describe 3 sibs, two females and a male, with hypogonadism, defective Müllerian development in the sisters, and partial alopecia consisting of cranial hair only in the center of the scalp. One sister had absent gonads, the other had streak ovaries; both had markedly hypoplastic internal genitalia. Their brother had hormonal and histologic findings consistent with germinal cell aplasia. In view of the fact that the parents were consanguineous, autosomal recessive inheritance of the syndrome is likely. |
| Databáze: | OpenAIRE |
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