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Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
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Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
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Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
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Journal Article
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
2019
Overview
Background
X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the
NR0B1
gene, causing a loss of function of the nuclear receptor protein
DAX-1
. Adrenal insufficiency usually appears in the first 2 months of life, but can sometimes emerge during childhood. Hypogonadotropic Hypogonadism is often associated later in life and patients may develop azoospermia. We describe an unusual onset of AHC started with isolated hypoaldosteronism as first and only sign of the disease.
Case presentation
A 18-days-old newborn presented with failure to thrive and feeding difficulties. Blood tests showed severe hyponatremia, hyperkalemia and hypochloremia. Renin was found over the measurable range and aldosterone was low whereas cortisol level was normal with a slightly increased ACTH. In the suspicion of Primary Hypoaldosteronism, correction of plasmatic electrolytes and replacement therapy with Fludrocortisone were promptly started. The subsequent evidence of low plasmatic and urinary cortisol and increased ACTH required the start of Hydrocortisone replacement therapy and it defined a clinical picture of adrenal insufficiency. Genetic analysis demonstrated a novel mutation in the
DAX-1
gene leading to the diagnosis of AHC.
Conclusions
AHC onset may involve the aldosterone production itself, miming an isolated defect of aldosterone synthesis.
NR0B1/DAX-1
mutations should be considered in male infants presenting with isolated hypoaldosteronism as first sign of adrenal insufficiency.
Publisher
BioMed Central,BioMed Central Ltd,BMC
Subject
/ Adrenal Insufficiency - etiology
/ Adrenal Insufficiency - genetics
/ Age
/ Biomedical and Life Sciences
/ Children
/ Clinical-Molecular Genetics and Cytogenetics
/ Complications and side effects
/ DAX-1
/ DAX-1 Orphan Nuclear Receptor - genetics
/ DNA
/ Failure to Thrive - etiology
/ Failure to Thrive - genetics
/ Genes
/ Hormones
/ Humans
/ Hypoadrenocorticism, Familial - complications
/ Hypoadrenocorticism, Familial - genetics
/ Hypoaldosteronism - etiology
/ Hypoaldosteronism - genetics
/ Infants
/ Male
/ Mineralocorticoid deficiency
/ Mutation
/ Novels
/ NR0B1
/ Renin
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