Complex glycerol kinase deficiency and adrenocortical insufficiency in the neonate.

We describe our experience with two such patients who presented with dysmorphic facies, AI, and 17-hydroxyprogesterone levels below 10 ng/ml; they were both found to have Xp21.2 deletions. We conclude that AI in the context of other genetic abnormalities should prompt chromosomal investigations in the absence of another unifying explanation. PMID: 27087023 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research