Background: Adrenal hypoplasia congenital associated with DAX-1 (NROB1) gene mutations is a rare cause of primary adrenal insufficiency in male. It can be presented as a part of Xp21 contiguous gene deletion syndrome which characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability (IL1RAPL1) and/or Duchenne muscular dystrophy (DMD).
Case report: We report a 6-month-old male infant, which presented a congenital primary adrenal insufficiency, unilateral cryptorchidism and high levels of transaminases. An adrenal insufficiency was diagnosed at 6 weeks after birth due to low weight gain, hyperpigmentation, hypotonia, hyponatremia (125 mmol/l), hyperkalemia (8 mmol/l), high levels of ACTH and renin (293 pg/ml and 500 U/l, respectively). Evaluation at 6 months of age revealed elevated liver enzymes (ALT 281 U/l, AST 275 U/l), increased levels triglyceride (5.18 mmol/l) and extremely increased creatine phosphokinase (15,000 U/l). It was suggestive for myodystrophy. We supposed that the combination of adrenal insufficiency with cryptorchidism, and laboratory signs of myodystrophy could result from the Xp21 contiguous gene deletion syndrome. Further investigations showed massive glyceroluria, and the glycerol kinase deficiency was suspected. Microarray analysis showed the Xp microdeletion in Xp21.2-p21.3(28332614_34432348) loci, which involved IL1RAPL1, NR0B1, GK, DMD genes. During last examination at the age of 6 month the mental retardation and/or symptoms of muscular dystrophy were not seen.
Conclusion: Congenital adrenal hypoplasia is a rare disease that could be associated with of Xp21 contiguous gene deletion syndrome. Patients should be screened for other components such as complex glycerol kinase deficiency, Duchennes muscular dystrophy and mental retardation. Early diagnosis of Duchennes muscular dystrophy can be helpful for appropriate treatment strategy and prenatal diagnosis in the family.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology