Adelaide Research & Scholarship
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https://hdl.handle.net/2440/32941
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| Type: | Journal article |
| Title: | Variable presentation of X-linked adrenal hypoplasia congenita |
| Author: | Wiltshire, E. Couper, J. Rodda, C. Jameson, J. Acherman, J. |
| Citation: | Journal of Pediatric Endocrinology and Metabolism, 2001; 14(8):1093-1096 |
| Publisher: | Freund Publishing House Ltd |
| Issue Date: | 2001 |
| ISSN: | 0334-018X 2191-0251 |
| Statement of Responsibility: | E. Wiltshire, J. Couper, C. Rodda, J.L. Jameson and J.C. Achermann |
| Abstract: | We present a family with X-linked adrenal hypoplasia congenita (AHC) due to a truncation mutation in the DAX1 gene. The three patient reports demonstrate variable clinical and biochemical features at presentation. They presented with adrenal crises at 3 years, 4 weeks, and 3 weeks. Mineralocorticoid deficiency preceded glucocorticoid deficiency in patient 3 and an early ultrasound indicated normal sized adrenal tissue. Genetic analysis showed that potential female carriers were unaffected. |
| Keywords: | Adrenal Glands X Chromosome Humans Adrenal Insufficiency Hydrocortisone Renin DNA-Binding Proteins Receptors, Retinoic Acid Transcription Factors Repressor Proteins Glucocorticoids Mineralocorticoids Ultrasonography Pedigree DNA Mutational Analysis Heterozygote Mutation Child, Preschool Infant Infant, Newborn Male Adrenocorticotropic Hormone DAX-1 Orphan Nuclear Receptor Genetic Linkage |
| DOI: | 10.1515/jpem-2001-0804 |
| Description (link): | http://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEM14_8_S4.htm |
| Published version: | http://dx.doi.org/10.1515/jpem-2001-0804 |
| Appears in Collections: | Aurora harvest 6 Paediatrics publications |
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