Research & Literature

Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.

Jühlen R, Idkowiak J, Taylor AE, et al.

PloS one 2015; (10(4)):e0124582 doi:10.1371/journal.pone.0124582.

Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.

Dumic M, Putarek NR, Kusec V, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2016; (27(2)):521-6 doi:10.1007/s00198-015-3265-0.

The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.

Carvalhal S, Ribeiro SA, Arocena M, et al.

Molecular biology of the cell 2015; (26(19)):3424-38 doi:10.1091/mbc.E15-02-0113.

Allgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley.

Misgar RA, Pala NA, Ramzan M, et al.

Endocrinology and metabolism (Seoul, Korea) 2015; (30(4)):604-6 doi:10.3803/EnM.2015.30.4.604.

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline.

Bornstein SR, Allolio B, Arlt W, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(2)):364-89 doi:10.1210/jc.2015-1710.

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.

Kallabi F, Belghuith N, Aloulou H, et al.

Archives of medical research 2016; (47(2)):105-10.

Early myotomy and fundoplication in achalasia in childhood: a single-centre experience for 22 years.

Erginel B, Gun Soysal F, Keskin E, et al.

Acta chirurgica Belgica 2016; (116(1)):16-8 doi:10.1080/00015458.2015.1128197.

Three cases of triple A syndrome (Allgrove syndrome) in pediatric surgeons' view.

Erginel B, Gün F, Kocaman H, et al.

Acta chirurgica Belgica 2016; (116(2)):119-21 doi:10.1080/00015458.2016.1139835.

Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome.

Brown B, Agdere L, Muntean C, David K

The American journal of case reports 2016; (17()):703-706 doi:10.12659/ajcr.899546.

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

Koehler K, Milev MP, Prematilake K, et al.

Journal of medical genetics 2017; (54(3)):176-185 doi:10.1136/jmedgenet-2016-104108.

Conduct protocol in emergency: Acute adrenal insufficiency.

Fares AB, Santos RA

Revista da Associacao Medica Brasileira (1992) 2016; (62(8)):728-734 doi:10.1590/1806-9282.62.08.728.

Clinical features and practice patterns of treatment for adrenal crisis: a nationwide cross-sectional study in Japan.

Ono Y, Ono S, Yasunaga H, et al.

European journal of endocrinology 2017; (176(3)):329-337.

Adrenal insufficiency - recognition and management.

Pazderska A, Pearce SH

Clinical medicine (London, England) 2017; (17(3)):258-262 doi:10.7861/clinmedicine.17-3-258.

[Adrenal crisis].

Burger-Stritt S, Hahner S

Der Internist 2017; (58(10)):1037-1041 doi:10.1007/s00108-017-0307-z.

Primary Adrenal Insufficiency: Managing Mineralocorticoid Replacement Therapy.

Esposito D, Pasquali D, Johannsson G

The Journal of clinical endocrinology and metabolism 2018; (103(2)):376-387 doi:10.1210/jc.2017-01928.

Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

Patt H, Koehler K, Lodha S, et al.

Endocrine connections 2017; (6(8)):901-913 doi:10.1530/EC-17-0255.

Triple-A syndrome: a wide spectrum of adrenal dysfunction.

Roucher-Boulez F, Brac de la Perriere A, Jacquez A, et al.

European journal of endocrinology 2018; (178(3)):199-207 doi:10.1530/EJE-17-0642.

"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.

Tibussek D, Ghosh S, Huebner A, et al.

BMC pediatrics 2018; (18(1)):6 doi:10.1186/s12887-017-0973-y.

SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.

Reznik Y, Barat P, Bertherat J, et al.

Annales d'endocrinologie 2018; (79(1)):1-22 doi:10.1016/j.ando.2017.12.001.

Compensation for chronic oxidative stress in ALADIN null mice.

Jühlen R, Peitzsch M, Gärtner S, et al.

Biology open 2018; (7(1)) doi:10.1242/bio.030742.

AAA Syndrome, Case Report of a Rare Disease.

Shah SWH, Butt AK, Malik K, et al.

Pakistan journal of medical sciences 2017; (33(6)):1512-1516 doi:10.12669/pjms.336.13684.

[Addisonian Crisis - Risk Assessment and Appropriate Treatment].

Meyer G, Badenhoop K

Deutsche medizinische Wochenschrift (1946) 2018; (143(6)):392-396 doi:10.1055/s-0043-111729.

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

Singh K, Puri RD, Bhai P, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2018; (31(7)):799-807 doi:10.1515/jpem-2018-0023.

Allgrove syndrome and motor neuron disease.

de Freitas MRG, Orsini M, Araújo APQC, et al.

Neurology international 2018; (10(2)):7436 doi:10.4081/ni.2018.7436.

Clinical decision making and application of an active rehabilitation program for a person with the neuromuscular symptoms of Allgrove syndrome: a case report.

Adams JT

Physiotherapy theory and practice 2020; (36(9)):1035-1042 doi:10.1080/09593985.2018.1548049.

Isolated glucocorticoid deficiency: Genetic causes and animal models.

Maharaj A, Maudhoo A, Chan LF, et al.

The Journal of steroid biochemistry and molecular biology 2019; (189()):73-80 doi:10.1016/j.jsbmb.2019.02.012.

A Child with Weight Loss and Alacrimation: Triple A Syndrome.

Ain QU, Asif N, Shahzad N, Sheikh WH

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2019; (29(6)):S52-S53 doi:10.29271/jcpsp.2019.06.S52.

A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.

Polat R, Ustyol A, Tuncez E, Guran T

Journal of endocrinological investigation 2020; (43(2)):185-196 doi:10.1007/s40618-019-01099-2.

Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach.

Flokas ME, Tomani M, Agdere L, Brown B

Pediatric health, medicine and therapeutics 2019; (10()):99-106 doi:10.2147/PHMT.S173081.

Autoimmune Addison's disease.

Saverino S, Falorni A

Best practice & research. Clinical endocrinology & metabolism 2020; (34(1)):101379 doi:10.1016/j.beem.2020.101379.

Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene.

Jabbour S, Hamel P, Soucy JF, Ospina LH

Cornea 2020; (39(6)):782-783 doi:10.1097/ICO.0000000000002287.

Prevention of Adrenal Crisis: Cortisol Responses to Major Stress Compared to Stress Dose Hydrocortisone Delivery.

Prete A, Taylor AE, Bancos I, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(7)) doi:10.1210/clinem/dgaa133.

ENDOCRINOLOGY IN THE TIME OF COVID-19: Management of adrenal insufficiency.

Arlt W, Baldeweg SE, Pearce SHS, Simpson HL

European journal of endocrinology 2020; (183(1)):G25-G32.

Case report of a familial triple: a syndrome and review of the literature.

Gaiani F, Gismondi P, Minelli R, et al.

Medicine 2020; (99(22)):e20474 doi:10.1097/MD.0000000000020474.

Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity.

Pogliaghi G, Cangiano B, Duminuco P, et al.

Protein and peptide letters 2020; (27(12)):1192-1203 doi:10.2174/0929866527666200613215449.

4th A in a triple A syndrome - A rare case report.

MaheshKumar K, Mahadevan S, Ramaswamy P

Journal of basic and clinical physiology and pharmacology 2020; (31(6)) doi:10.1515/jbcpp-2019-0293.

The use of topical cyclosporine A 0.05% as treatment for primary alacrimia in Allgrove syndrome.

Botella García J, Lázaro-Rodríguez V, de la Paz MF

European journal of ophthalmology 2022; (32(1)):NP9-NP11 doi:10.1177/1120672120945109.

Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience

Çamtosun E, Dündar İ, Akıncı A, et al.

Journal of clinical research in pediatric endocrinology 2021; (13(1)):88-99 doi:10.4274/jcrpe.galenos.2020.2020.0132.

Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia.

Lousada LM, Mendonca BB, Bachega TASS

Archives of endocrinology and metabolism 2021; (65(4)):488-494.

Lacrimal Gland Hypoplasia and Corneal Anesthesia in MIRAGE Syndrome: A Case Report and Literature Review.

Basilious A, Basilious A, ElJalbout R, Robert MC

Cornea 2022; (41(8)):1041-1044 doi:10.1097/ICO.0000000000002900.

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.

Weiman DI, Gillespie MK, Hartley T, et al.

Child neurology open 2021; (8()):2329048X211031059 doi:10.1177/2329048X211031059.

Allgrove syndrome: Case report of 18 years old male:the first case report from Syria.

Hanino N, Swed S, Zakkor MD, et al.

Annals of medicine and surgery (2012) 2021; (72()):103009 doi:10.1016/j.amsu.2021.103009.

Allgrove syndrome with amyotrophy.

Soares MC, Lins OG, Lima de Carvalho JR, et al.

Practical neurology 2022; (22(3)):213-215 doi:10.1136/practneurol-2021-003192.

[Emergency card, emergency medication, and information leaflet for the prevention and treatment of adrenal crisis (Addison crisis): an Austrian consensus document].

Pilz S, Krebs M, Bonfig W, et al.

Journal fur klinische Endokrinologie und Stoffwechsel 2022; (15(1)):5-27 doi:10.1007/s41969-022-00155-2.

A Novel Variant in Triple A Syndrome.

Demet Akbaş E, Özalp Yüreğir Ö, Anlaş Ö, et al.

Acta endocrinologica (Bucharest, Romania : 2005) 2021; (17(3)):399-401 doi:10.4183/aeb.2021.399.

Management of Acute Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia: Results of an International Survey of Specialist Centres.

Ali SR, Bryce J, Krone NP, et al.

Hormone research in paediatrics 2022; (95(4)):363-373 doi:10.1159/000525075.

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.

Macke EL, Morales-Rosado JA, Macklin-Mantia SK, et al.

Molecular genetics & genomic medicine 2022; (10(7)):e1966 doi:10.1002/mgg3.1966.

AAMR syndrome in a 22-month-old and literature review.

Oet MA, Brahma V, McGrath J, Galvin JA

Ophthalmic genetics 2022; (43(5)):658-660 doi:10.1080/13816810.2022.2068046.

Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report.

Ali S, Murad MS, Hamdan H, Nakawa W

Journal of medical case reports 2022; (16(1)):304 doi:10.1186/s13256-022-03509-1.

Triple A syndrome-related achalasia treated by per-oral endoscopic myotomy: Three case reports.

Liu FC, Feng YL, Yang AM, Guo T

World journal of clinical cases 2022; (10(19)):6529-6535 doi:10.12998/wjcc.v10.i19.6529.

The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey.

Yıldırım R, Unal E, Tekmenuray-Unal A, et al.

Endocrine 2023; (79(2)):376-383 doi:10.1007/s12020-022-03206-5.

Allgrove syndrome: a case report.

Alhalabi M, Alsayd S, Alboushi E

Oxford medical case reports 2022; (2022(10)):omac104 doi:10.1093/omcr/omac104.

Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance.

Mushtaq T, Ali SR, Boulos N, et al.

Archives of disease in childhood 2023; (108(11)):871-878 doi:10.1136/archdischild-2022-325156.

Child Neurology: Allgrove Syndrome: An Intriguing Etiology of Motor Neuron Disease in Children

Gupta J, Chowdhury SR, Jauhari P, et al.

Neurology 2024; (102(4)):e208049 doi:10.1212/WNL.0000000000208049.

Diagnosis and management of secondary adrenal crisis.

Martel-Duguech L, Poirier J, Bourdeau I, Lacroix A

Reviews in endocrine & metabolic disorders 2024; (25(3)):619-637 doi:10.1007/s11154-024-09877-x.

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.

Smits DJ, Dekker J, Douben H, et al.

HGG advances 2024; (5(4)):100327 doi:10.1016/j.xhgg.2024.100327.

Very early and severe presentation of Triple A syndrome - case report and review of the literature.

Cehic M, Mitrovic K, Vukovic R, et al.

Frontiers in endocrinology 2024; (15()):1431383 doi:10.3389/fendo.2024.1431383.

Treatment and Prevention of Adrenal Crisis and Family Education

Çamtosun E, Sangün Ö

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):80-92 doi:10.4274/jcrpe.galenos.2024.2024-6-12-S.

Treatment and Follow-up of Non-stress Adrenal Insufficiency

Buğrul F, Özcan Murat N

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):93-101 doi:10.4274/jcrpe.galenos.2024.2024-6-23-S.

Triple A Syndrome-A Rare Hereditary Cause of Achalasia.

Duggal S, Botros M, Zaw E, et al.

ACG case reports journal 2025; (12(5)):e01686 doi:10.14309/crj.0000000000001686.

A triple A syndrome with neurological findings; c464G>A mutation in the AAAS gene.

Boz PB, Koç AF, Bereketoğlu MB

Ideggyogyaszati szemle 2025; (78(5-6)):207-210 doi:10.18071/isz.78.0207.

Adrenal Insufficiency in Adults: A Review.

Vaidya A, Findling J, Bancos I

JAMA 2025; (334(8)):714-725 doi:10.1001/jama.2025.5485.

The First Reported Case of Peroral Endoscopic Myotomy in a Child in Portugal.

Rodrigues IC, Rodrigues L, Lopes AI, et al.

GE Portuguese journal of gastroenterology 2025; (32(4)):281-287 doi:10.1159/000542776.

Corneal parameters in pediatric triple a syndrome patients with alacrima.

Faiz Turan M, Turan I

Ophthalmic genetics 2025; (46(6)):576-580 doi:10.1080/13816810.2025.2538560.

Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.

Musa SA, Abdullah MA, Hassan SS, et al.

Frontiers in endocrinology 2025; (16()):1617552 doi:10.3389/fendo.2025.1617552.

A Novel AAAS Gene Mutation in Allgrove Syndrome: Case Report and Genetic Insights from a Chinese Xinjiang Girl.

Shawutali N, Qianman B, He J, et al.

Annals of clinical and laboratory science 2025; (55(4)):618-624.

Peroral endoscopic myotomy followed by antireflux mucosectomy for gastroesophageal reflux in a rare case of Allgrove syndrome.

Parekh S, Kamat N, Pendse S, et al.

Clinical journal of gastroenterology 2026; (19(1)):230-234 doi:10.1007/s12328-025-02257-1.

Atypical Respiratory Presentation of Pediatric Achalasia: A Case Report.

Munoz J, McClain A, Larson J, Reddy M

Cureus 2026; (18(3)):e105109 doi:10.7759/cureus.105109.

Peroral endoscopic myotomy provides effective and sustained relief for achalasia in Allgrove syndrome: a long-term comparative cohort study.

Liu Y, Hu Y, Guo T, et al.

Frontiers in medicine 2026; (13()):1819125 doi:10.3389/fmed.2026.1819125.

Triple Trouble: Early Clues in the Diagnosis of Allgrove Syndrome: A Case Report.

Majiyagbe T, Kumaran A, Gnanaraj L, Wood C

Case reports in endocrinology 2026; (2026()):3771629 doi:10.1155/crie/3771629.

Toward a deeper and more comprehensive understanding of neurological symptoms related to Allgrove syndrome: a case report.

Al-Hasani F, Diab H, Haddad S, et al.

Annals of medicine and surgery (2012) 2026; (88(6)):3585-3588 doi:10.1097/MS9.0000000000004918.

The Clinical and Biological Characterization of Triple A Syndrome (Allgrove Syndrome) in 12 Pediatric Patients.

Bouarab I, Yakine F, Alaoui-Inboui FZ, et al.

Cureus 2026; (18(5)):e109586 doi:10.7759/cureus.109586.

Triple A syndrome with a new mutation pattern, first documented case in Austria: a case report with literature review.

Anderle K, Muellner-Bucsics T, Stadlmann A, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Clinical and Electrodiagnostic Characterization of Pediatric Triple A Syndrome: A Cohort of 17 Patients.

Kipoğlu O, Manyas H, Mutlu MB, et al.

Muscle & nerve 2026; (74(4)):1205-1211 doi:10.1002/mus.70355.

Update on adrenal crisis.

Götz H, Amrein K

Best practice & research. Clinical anaesthesiology 2026; (40(1)):100-107 doi:10.1016/j.bpa.2026.04.002.

Allgrove syndrome in Colombia: clinical characterization and evidence of a possible founder effect.

Botero Hernandez JA, Varela Macias ED, Lopera Cañaveral MV, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2026; doi:10.1515/jpem-2026-0358.

Case Report: First case of Triple A syndrome diagnosed in French Guiana: clinical presentation, molecular confirmation, and literature review.

Diop M, Roosler Billy T, Elenga N

Frontiers in pediatrics 2026; (14()):1906922 doi:10.3389/fped.2026.1906922.

Clinical and Genetic Heterogeneity of Triple A Syndrome: A Multicenter Study.

Celebi D, Kiraz A, Khojakulov Z, et al.

Hormone research in paediatrics 2026; 1 doi:10.1159/hrp/adaag030.

Improving Medication Safety for Patients with Adrenal Insufficiency Using Electronic Health Record Optimization.

Gupta M, Huang A, Ness K, et al.

Pediatric quality & safety 2026; (11(6)):e939 doi:10.1097/pq9.0000000000000939.