Triple-A Syndrome

Sarathi, Vijaya; Shah, Nehal

doi:10.1007/978-1-4419-6448-9_1

Cited by 45 publications

(55 citation statements)

References 47 publications

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“…Histology of the adrenal cortex of triple-A patients has shown atrophy of the fasciculate and reticulate zones while the glomerulus zone is often preserved. This is consistent with our case as the patient showed no mineralocorticoid deficiency and was treated only with hydrocortisone [15]. The major complaint of our patient was achalasia.…”

Section: Discussionsupporting

confidence: 92%

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

Hansen¹,

Frederiksen²,

Juhl³

2015

Endocrinol Metab Syndr

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Triple-A syndrome known as Allgroves syndrome classically present with: achalasia, alacrimia and adrenal insufficiency. Ataxia and autonomic dysfunction is additionally described in many cases. We present a case report of a young man of Pakistan origin with achalasia, alacrimia, adrenal insufficiency, ataxia and autonomic dysfunction. Genetic screening identified a novel mutation in the AAAS gene resulting in a homozygous point-mutation

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Section: Discussionsupporting

confidence: 92%

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

Hansen¹,

Frederiksen²,

Juhl³

2015

Endocrinol Metab Syndr

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“…This condition generally appears at early ages. In most patients, the first organ involved is lacrimal gland [4]. The lacrimal gland dysfunctions are due to destruction of gland and autonomic involvement.…”

Section: Discussionmentioning

confidence: 99%

A Case Report of Allgrove Syndrome with Neurological Involvement

Pekkolay¹,

Kilinc²,

Tuna³

et al. 2015

Med-Science

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“…Other differential diagnoses in our case included AAA syndrome. However, this was unlikely in the absence of alacrima, which is the earliest and most consistent feature of this syndrome [36]. Due to the extremely elevated ACTH levels, familial glucocorticoid deficiency due to ACTH resistance was considered but ruled out due to the presence of hypoaldosteronism early in the disease course.…”

Section: Discussionmentioning

confidence: 99%

Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita

et al. 2015

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Background: X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency (PAI) in children due to mutations in NR0B1/DAX1 (nuclear receptor subfamily 0, group B, member 1/dosage-sensitive sex reversal-adrenal hypoplasia congenita at the critical region of the X chromosome, gene 1). Another rare cause of PAI in children is autoimmune adrenal disease (AAD) which could be either isolated or as part of autoimmune polyglandular syndrome. Antibody to major auto-antigen, 21-hydroxylase, is highly specific for AAD. Methods: We report a now 19-month-old male with PAI due to NR0B1 gene mutation and positive adrenal antibodies. Initially, he presented at 15 days of life with isolated hypoaldosteronism which later unfolded into complete PAI. Data analysis was done via retrospective chart review. Results: Genetic analysis of the NR0B1 gene revealed a known hemizygous mutation in c.1069C>T; p.Gln357X. Simultaneously, he was noted to have positive 21-hydroxylase antibodies. Conclusion: According to our knowledge, this is the first case in the literature with NR0B1 mutation causing adrenal insufficiency with coexistent positive adrenal antibodies. In addition to his already compromised adrenal function due to NR0B1 mutation, he is now at risk for the development of associated autoimmune conditions requiring close follow-up.

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Triple-A Syndrome

Cited by 45 publications

References 47 publications

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

A Case Report of Allgrove Syndrome with Neurological Involvement

Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita

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