Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed

Abstract

SUMMARYSalt-losing crisis with hypoglycaemia and shock are the main manifestations of congenital adrenal hyperplasia (CAH) during the first weeks of life, while hyponatremia and hyperpotassemia alone are seen on mineralocorticoid deficiency or resistance. During the neonatal period, high blood levels of adrenal steroids may lead to confusing laboratory tests not being able to identify the real level of each hormone. A 33-day-old male baby was admitted at the emergency department with severe salt-losing crisis (Na + 99 mEq/l and K + 9.4 mEq/l) and mild acidosis. No hypoglycaemia or hypotension was seen. Urinary tract infection was excluded. Despite treatment with hydrocortisone and fludrocortisone, hyperpotassemia was hard to control. Laboratory tests could not differentiate between pseudohypoaldosteronism and CAH as both the aldosterone (2454 pg/ml) and 17-OH-progesterone (656.6 ng/ml) levels were high. Diagnosis was made, thanks to the genetic study that proved classical mutations in both alleles of the 21-hydroxylase gene. BACKGROUND

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency

“…We measured aldosterone by chemiluminometric immunoassay (Autobio, China) with a cross reactivity level of <0.1% to other steroid compounds like DOC, 11-deoxycortisol, testosterone and cortisol. Similar to our study, previous reports have shown that elevated aldosterone levels in CAH may be associated with cross-reactivity of high levels of adrenal steroid precursors ( 14 – 16 ), which could explain the aldosterone levels in our patients.…”

A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection

“…On the other hand, in patients with PHA, serum aldosterone levels are significantly elevated, and 17-OHP and serum cortisol levels are expected to be normal. However, previous reports indicate that patients with CAH sometimes have normal to very high levels of aldosterone and normal levels of cortisol, and this may make the diagnosis and initial treatment of CAH difficult [4]. Similarly, the laboratory tests of our patient revealed elevated serum aldosterone and normal serum cortisol levels.…”

Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia

“…It may also be seen with gastrointestinal surgical problems (7) (8). Commonly, these cases present with low GFR and electrolytes normalize after treatment.…”