introduction the current study introduces a case with adrenal insufficiency that was suspected to have congenital adrenal hypoplasia because of undescended testis and failure to thrive due to muscle involvement. case presentation the patient was a 34-month-old boy who had loss of consciousness, hypotension, hypoglycemia, hyponatremia and hyperkalemia with severe failure to thrive, hyper pigment...

Delay of diagnosis of primary adrenal insufficiency (PAI) leads to adrenal crisis which is potentially lethal complication. The objective of our work was an assessment whether the establishment of diagnosis of adrenocortical insufficiency in Poland is so much delayed as assessed in the past. We have analysed data from 60 patients with diagnosis of PAI established in our department during the pa...

DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita. This condition typically affects boys and presents as primary adrenal insufficiency in early infancy or childhood, hypogonadotropic hypogonadism at puberty an...