Variable presentation of X-linked adrenal hypoplasia congenita

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.E. Wiltshire, J. Couper, C. Rodda, J.L. Jameson and J.C. Achermannhttp://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEM14_8_S4.ht