Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy
| Autor: | Adelbert Roscher, Vesna Plavšić, Nikola Gubarev, Nada Sikic, Boris Filipovic‐Grcic, Miro Dumić |
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| Jazyk: | angličtina |
| Rok vydání: | 1992 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Pediatrics endocrine system endocrine system diseases Graves' disease Endocrine System Diseases Autoimmune thyroiditis Addison Disease Internal medicine Adrenal insufficiency Humans Medicine Endocrine system Adrenoleukodystrophy Polyendocrinopathies Autoimmune Glucocorticoids Genetics (clinical) integumentary system business.industry Thyroiditis Autoimmune Primary hypothyroidism Sparse scalp hair medicine.disease Graves Disease Pedigree Body hair Endocrinology adrenoleukodystrophy metabolic diseases genetic disease nervous system diseases lipids female human family study hair (head) skin disease endocrinopathy heterozygozity thyroid diseases addison disease Female business Hair |
| DOI: | 10.1002/ajmg.1320430515 |
| Popis: | We describe two sisters (40 and 42 years old) heterozygous for adrenoleukodystrophy who have multiple endocrine disorders. In addition to the characteristic neurological symptoms, the younger patient has Addison disease and primary hypothyroidism attributable to autoimmune thyroiditis, and the older one has Graves disease. Both patients have loss of body hair and sparse scalp hair, which have not been reported previously in women heterozygous for adrenoleukodystrophy. After the institution of glucocorticoid replacement therapy, the younger sister, who has adrenal insufficiency, has shown unexpected neurological improvement. © 1992 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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