ArticleEndocrine connections2017
Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
Article in Endocrine connections, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 38 citations in OpenAlex.
- The Clinical and Biological Characterization of Triple A Syndrome (Allgrove Syndrome) in 12 Pediatric Patients.Cureus · 2026Article
- Case Report: First case of Triple A syndrome diagnosed in French Guiana: clinical presentation, molecular confirmation, and literature review.Frontiers in pediatrics · 2026Article
- Article
- Gonadal Function and Reproductive Health Challenges in Triple a Syndrome: A Narrative Review.Medicina (Kaunas, Lithuania) · 2025Review
- Double 'A' phenotypes with mineralocorticoid deficiency: A rare presentation of Allgrove syndrome.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Article
- Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.Frontiers in endocrinology · 2025Article
- Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of theMolecular syndromology · 2024Article
- Very early and severe presentation of Triple A syndrome - case report and review of the literature.Frontiers in endocrinology · 2024Review
- SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome.Orphanet journal of rare diseases · 2023Article
- Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology.Endocrine · 2023Review
- Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations.Internal medicine (Tokyo, Japan) · 2021Article
- Bilateral Recurrent Laryngeal Nerve Palsy following Total Thyroidectomy in Triple A Syndrome, an Unexpected but Critical Complication.Case reports in otolaryngology · 2021Article
- Two novel truncating variants of the AAAS gene causative of the triple A syndrome.Journal of endocrinological investigation · 2020Article
- Review
- A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.Journal of endocrinological investigation · 2020Article
- Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
- Triple A syndrome: two siblings with a novel mutation in the AAAS gene.Hormones (Athens, Greece) · 2019Article
- Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach.Pediatric health, medicine and therapeutics · 2019Article
- Triple A syndrome presenting as complicated hereditary spastic paraplegia.Molecular genetics & genomic medicine · 2018Article
- A Novel Variant in Triple A Syndrome.Acta endocrinologica (Bucharest, Romania : 2005)Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo study genotype-phenotype spectrum of triple A syndrome (TAS).
methodsRetrospective chart analysis of Indian TAS patients (cohort 1,
resultsMedian age at presentation was 4.75 years (range: 4-10) and 5 years (range: 1-42) for cohorts 1 and 2, respectively. Alacrima, adrenal insufficiency (AI), achalasia and neurological dysfunction (ND) were seen in 8/8, 8/8, 7/8 and 4/8 patients in cohort 1, and in 99, 91, 93 and 79% patients in cohort 2, respectively. In both cohorts, alacrima was present since birth while AI and achalasia manifested before ND. Mineralocorticoid deficiency (MC) was uncommon (absent in cohort 1, 12.5% in cohort 2). In cohort 1, splice-site mutation in exon 1 (p.G14Vfs*45) was commonest, followed by a deletion in exon 8 (p.S255Vfs*36). Out of 65 mutations in cohort 2, 14 were recurrent and five exhibited regional clustering. AI was more prevalent, more often a presenting feature, and was diagnosed at younger age in T group (those with truncating mutations) as compared to NT (non-truncating mutations) group. ND was more prevalent, more common a presenting feature, with later age at onset in NT as compared to T group.
conclusionClinical profile of our patients is similar to that of patients worldwide. Alacrima is the earliest and most consistent finding. MC deficiency is uncommon. Some recurrent mutations show regional clustering. p.G14Vfs*45 and p.S255Vfs*36 account for majority of
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