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.

Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report / Iughetti, Lorenzo; Lucaccioni, Laura; Bruzzi, Patrizia; Ciancia, Silvia; Bigi, Elena; Madeo, Simona Filomena; Predieri, Barbara; Roucher-Boulez, Florence. - In: BMC MEDICAL GENETICS. - ISSN 1471-2350. - 20:1(2019), pp. 98-105. [10.1186/s12881-019-0834-7]

Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

Iughetti, Lorenzo
;
Lucaccioni, Laura;Bruzzi, Patrizia;Ciancia, Silvia;Madeo, Simona Filomena;Predieri, Barbara;
2019

Abstract

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.
2019
20
1
98
105
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report / Iughetti, Lorenzo; Lucaccioni, Laura; Bruzzi, Patrizia; Ciancia, Silvia; Bigi, Elena; Madeo, Simona Filomena; Predieri, Barbara; Roucher-Boulez, Florence. - In: BMC MEDICAL GENETICS. - ISSN 1471-2350. - 20:1(2019), pp. 98-105. [10.1186/s12881-019-0834-7]
Iughetti, Lorenzo; Lucaccioni, Laura; Bruzzi, Patrizia; Ciancia, Silvia; Bigi, Elena; Madeo, Simona Filomena; Predieri, Barbara; Roucher-Boulez, Flore...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1177859
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