Adrenal hypoplasia congenita in identical twins

Amer, Alia M. Al; Rubaya, Khloud M. Al; Alzahrani, Ali S.

doi:10.15537/smj.2019.1.23337

Cited by 6 publications

(4 citation statements)

References 9 publications

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“…The different causative mutations of DAX-1 can be responsible of the phenotypical variability, but different clinical features between patients of the same family, carrying the same mutations, indicate that environmental factors are involved and a detailed study of this disease also in presence of mild symptoms is essential to make a correct diagnosis and start a prompt therapy [16–18]. Table 2 summarizes some of the cases of DAX-1 mutation with initial isolated hypoaldosteronism and the main clinical and genetic characteristics described in literature [11–13, 15–24].…”

Section: Discussionmentioning

confidence: 99%

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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

et al. 2019

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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.

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Section: Discussionmentioning

confidence: 99%

“…Table 2 summarizes some of the cases of DAX-1 mutation with initial isolated hypoaldosteronism and the main clinical and genetic characteristics described in literature [11–13, 15–24].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2019

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“…Although genetic testing for the diagnosis of CAH due to 21-OHD is not essential, it is useful to evaluate borderline cases with equivocal biochemical testing. In order to identify other rarer cases of PAI, such as AHC and FGD (10,14), and get more information for genetic counseling and prognosis predicting, genetic testing is recommended.…”

Section: Genetic Causes For Pai Case Seriesmentioning

confidence: 99%

Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected

Gao

Chen

2020

Front. Pediatr.

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Primary adrenocortical insufficiency (PAI) is an important cause of morbidity in neonates. The most common cause of PAI in neonates is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). Other rarer monogenic cases, for example, adrenal hypoplasia congenita (AHC) or familial glucocorticoid deficiency, also simulate clinical manifestation of 21-OHD, leading to misdiagnosis. The therapies and prognosis of these monogenic cases of PAI are entirely different. This study aimed to compare the differences of clinical data and identify genetic etiologies of PAI cases in the neonatal period. All 7 neonates initially presented with hyperpigmentation, hyponatremia, hyperkalemia, and high serum adrenocorticotropic hormone levels. Only CAH patients showed hyperandrogenism and remarkably elevated serum 17-hydroxyprogesterone levels. All the pathogenic mutations found in CYP21A2 were well known, except c.1069C>T (exon 8). The male patient with AHC had a novel hemizygous deletion of exon 2 in DAX1. The other one with familial glucocorticoid deficiency type 1 had two novel heterozygous mutations in the gene coding melanocortin 2 receptor, c.701C>T (exon 2) and c.119delT (exon 2). Glucocorticoid and/or mineralocorticoid replacement therapy depends on the cause of PAI. Genetic testing can be performed as a alternative diagnostic approach to provide information about therapy, prognosis, and genetic counseling.

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“…Follow up of the case report “Adrenal hypoplasia congenita in identical twins”, published in Saudi Medical Journal in January 2019. 1 …”

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confidence: 99%

Comment on: Adrenal hypoplasia congenita in identical twins

Amer

Rubaya

2020

SMJ

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Adrenal hypoplasia congenita in identical twins

Cited by 6 publications

References 9 publications

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

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

Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected

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