We report on a young boy who has congenital adrenal hyperplasia (CAH) and a suspected Van Maldergem syndrome (VMLDS), another genetic condition that our patient showed its classic phenotype and was supported by a genetic test that showed a novel likely pathogenic variant in a previously described gene of the syndrome. Pediatricians do encounter the challenge of coexisting genetic conditions albeit infrequently, and advanced genetic analysis, example whole exome sequencing (WES), increasingly report variants of unknown significance with a variable degree of potential pathogenicity. The treating physician needs to follow a systematic approach and entertain a thorough literature search and brainstorming in order to identify any possible relationship between coexisting genetic conditions. The first step should be confirming the existence of the two conditions. However, when family segregation is unable to confidently make a sensible conclusion, a clinician should proceed to advanced functional studies to unveil any hidden relationship between coexisting and clinically likely related genetic conditions.
Key words: Congenital adrenal hyperplasia; Hippo pathway; Van Maldergem syndrome.
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