Inherited Adrenal Hypoplasia: Not Just for Kids!

Lin Lin; John C. Achermann


Clin Endocrinol. 2004;60(5) 

In This Article


Within the past decade, considerable progress has been made in our understanding of the molecular mechanisms of adrenal hypoplasia in childhood. As these individuals usually survive to adulthood with appropriate steroid replacement, it is becoming clear that many long-term features exist, which have important management issues for adult endocrinologists too. For example, ACTH deficiency may only be a late feature of inherited forms of multiple pituitary hormone deficiency; the expression of features in Triple A syndrome can be highly variable and can include subtle neurological signs; and boys with X-linked adrenal hypoplasia due to mutations in DAX1 have abnormalities in testis development and spermatogenesis with important implications for fertility and long-term surveillance. Furthermore, it is now clear that subtle or variant forms of adrenal hypoplasia may first present with adrenal insufficiency in adulthood. These cases highlight the importance of the adult endocrinologist knowing about these conditions, and support the need for close liaison between paediatric and adult teams, as well as geneticists and biochemists, in the appropriate diagnosis, management and counselling of patients and families under their care.

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