Variable presentation of X-linked adrenal hypoplasia congenita |
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Authors: | Wiltshire E Couper J Rodda C Jameson J L Achermann J C |
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Affiliation: | Department of Endocrinology, Women's and Children's Hospital, University of Adelaide, South Australia, Australia. |
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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. |
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