A CASE OF X-HNKED ADRENAL HYPOPLASIA CONGENITA WITH GLYCEROL KINASE DEFICIENCY

X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency caused by deletion or mutation of the DAX-1 gene and frequent association with hypogonadotropic hypogonadism (HHG). Furthermore, this form can occur as a part of Xp21 contiguous gene syndome together with glycerol kinase deficiency (GKD) and Duchenne muscular dystrophy. We report a 4-year-old boy with X-linked AHC with GKD. He presented a generalized hyperpigmentation at birth and was admitted to our hospital at the age of 0 day because of convulsion attacks. Laboratory finding on admission revealed marked hypoglycemia (0mg/dl), mild metabolic acidosis and normal electrolytes. Endocrinologic examinations showed elevated plasma ACTH concentration (> 3000pg/ml) and plasma renin activity (8.6ng/ml/hr.), low serum concentration of cortisol (1.1μg/dl), aldosterone (33pg/ml), 17α-hydroxyprogesterone (17αOHP) and dehydroepian- drosterone sulfate (DHEA-S). Computed tomography scan of the abdomen did not show an adrenal gland. Serum glycerol level was also elevated. With these findings, we made a diagnosis of AHC with GKD. Genetic analysis by fluorescence in situ hybridization (FISH) revealed the deletion in the Xp21 region including DAX-1 gene in both the patient and his mother. He was treated with the supplement of hydrocortisone and fludrocortisone acetate and showed normal growth and development without any symptom of myopathy at the age of 4 years