Table 7. [Recommended Evaluations and Next Steps for Males Identified by Family Screening]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic assessment	Brain MRI	Assess for presence of cerebral disease. Urgency will depend on age of affected person. Males age <2-10 yrs need expedited imaging (see Table 8).
Endocrine	ACTH & cortisol levels Referral to pediatric endocrinology	Replacement glucocorticoid therapy
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of X-ALD to facilitate medical & personal decision making To identify male relatives at risk for X-ALD & primary adrenocortical insufficiency who might warrant diagnostic eval & treatment/screening as recommended in Table 4.
Family support & resources	Assess need for: Community or online resources; Social work involvement for parental/family support.

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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