Endocrine Abstracts

Pseudohypoaldosteronism is one of the least explored questions in clinical endocrinology. That leads to complexity in diagnosis and differential diagnostics of disease. A boy, aged 13 days was admitted to the hospital with complains: vomiting, low weight gain, constipation. Biochemical blood assay (BBA) and acid-base balance of blood: level of sodium −127 mmol/l (N 132 – 145 mmol/l), potassium −6.6 mmol/l (N 3.1 – 5.1 mmol/l), chlorine – 94.7 mmol/l (98–107 mmol/l), pH – 7.42 (N 7.35 – 7.45). Clinical blood analysis, clinical urine analysis, thyroid hormones, coagulation profile were within normal limits. Values of 17-pregnenoldione in blood −4.09 and 2.57 nmol/l (N 0.7 – 2.3 nmol/l), adrenocorticotropic hormone (ACTH) −9.61 pmol/l (N 7.2 – 63.3 pmol/l), cortisol – 76.5 and 324 nmol/l (N 140 – 600 nmol/l), dehydroepiandrosteronum-sulfate – 252.1 μg/dl (N 31.6 – 214 μg/dl). Diagnosis was made: salt-losing form of congenital adrenal cortical hyperplasia. Fludrocortisone and hydrocortisone were given. BBA after treatment: level of sodium – 127 mmol/l and potassium – 6.8 mmol/l. Values of ACTH in blood (34.9 pmol/l), aldosterone (2772 ng/l, N 300 – 1900 ng/l), renin (128 pg/ml, N 4.66 – 31.9 pg/ml) were measured. Resistance of electrolyte disturbances was marked on glucocorticoid and mineralocorticoid treatment. The final clinical diagnosis was made: renal form of pseudohypoaldosteronism type I (based on complains, level of sodium and potassium, values of ACTH, aldosterone and renin in blood, resistance of electrolyte disturbances was marked on treatment of glucocorticoid and mineralocorticoid). Gradual dose decline of fludrocortisone and hydrocortisone to full drug withdrawal; solution of Sodium Chloride 0.9% peroral (100 ml within 24 hours) were recommended. The child (2 months 13 days) was discharged from the hospital in compensated condition.

Conclusions: Early diagnosis of pseudohypoaldosteronism permits to start treatment timely and to improve prognosis, to reduce the risk of physical and psychomotor retardation.