Case Reports
doi: 10.1515/jpem-2001-0804.
Variable presentation of X-linked adrenal hypoplasia congenita
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- PMID: 11592565
- DOI: 10.1515/jpem-2001-0804
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Case Reports
Variable presentation of X-linked adrenal hypoplasia congenita
J Pediatr Endocrinol Metab.
2001 Sep-Oct.
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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