Background: DAX-1 mutation is a rare genetic cause of adrenal insufficiency also causing hypogonadotropic hypogonadism.
Case presentation: The patient was born to a G1P1 mother. At the age of 1 month he developed acidosis, hyponatremia, hyperkalemia, diagnosed with congenital adrenal hyperplasia and started on hydrocortisone and fludrocortisone. No CYP 21 mutation was identified, fludrocortisone was continued for presumed hypoaldosteronism, hydrocortisone discontinued. At the age of 3 years he was rehospitalized. Labs were: BG: 40 mg/dl, Na: 128 mEq/l, K: 6.5 mEq/l, cortisol: 0.6 μg/dl, ACTH: 5102 pg/ml, aldosterone: 2.48 ng/dl. Scrotal ultrasound revealed cryptorchidism and underdeveloped right testis. He was started on hydrocortisone, continued on fludrocortisone and underwent unilateral left orchiopexy with right orchiectomy. Due to the combination of adrenal insufficiency- dysgenetic testes the possibility of DAX1 gene mutation was entertained. He was found to be hemizygote for the insertion c.1289_1290insTTAA, p.S431X exon 2 of DAX gene.
Conclusions: DAX 1 gene mutation should be considered in the diagnosis of adrenal insufficiency in boys exhibiting signs of hypogonadism.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology