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

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dc.contributor.authorGÜRAN, TÜLAY
dc.contributor.authorsPolat, R.; Ustyol, A.; Tuncez, E.; Guran, T.
dc.date.accessioned2022-03-12T22:44:17Z
dc.date.available2022-03-12T22:44:17Z
dc.date.issued2020
dc.description.abstractBackground Allgrove syndrome (OMIM 231550) is a rare autosomal recessive disease characterized by non-CAH primary adrenal insufficiency (non-CAH PAI), alacrima, and achalasia. It is caused by mutations in the AAAS gene. The syndrome is also associated with variable progressive neurological impairment and dermatological abnormalities. Methods and results We diagnosed 23 patients from 14 families with Allgrove syndrome, based on the presence of at least two characteristic symptoms, usually adrenal insufficiency and alacrima, between 2008 and 2018. A previously described nonsense variant of AAAS was detected in 19 patients from 12 families at homozygous state. Another novel homozygous mutation (c.394-397delCTGT) in AAAS was detected in four patients from two families. Presenting symptoms were alacrima (23/23; 100%), adrenal insufficiency (18/23; 78%), achalasia (13/23; 57%), short stature/growth retardation (16/23; 70%), hyperreflexia (15/23; 65%), palmoplantar hyperkeratosis (13/23; 57%), hyperpigmentation of the skin (10/23; 43%), hypoglycemia-induced convulsion (7/23; 30%), swallowing difficulty and vomiting (6/23; 26%). Serum DHEAS concentrations were low in all patients (23/23; 100%). Conclusions Clinical symptoms vary even among patients carrying the same mutation. Triple A syndrome should be considered in the etiology of non-CAH PAI in Arab populations and in Southeast Turkey. Any child with non-CAH PAI should be evaluated for the presence of alacrima and/or achalasia or family history of alacrima and/or achalasia. Children with alacrima and/or achalasia should also be investigated for adrenal insufficiency. Definitive molecular diagnosis is essential for early diagnosis and management of adrenal insufficiency, neurological symptoms, and growth retardation in patients and early diagnosis of as yet asymptomatic cases in the family, together with genetic counseling.
dc.identifier.doi10.1007/s40618-019-01099-2
dc.identifier.eissn1720-8386
dc.identifier.issn0391-4097
dc.identifier.pubmed31435881
dc.identifier.urihttps://hdl.handle.net/11424/236415
dc.identifier.wosWOS:000512014700007
dc.language.isoeng
dc.publisherSPRINGER
dc.relation.ispartofJOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectTriple A syndrome
dc.subjectAllgrove syndrome
dc.subjectAdrenal insufficiency
dc.subjectAchalasia
dc.subjectPalmoplantar hyperkeratosis
dc.subjectAlacrima
dc.subjectTRIPLE-A SYNDROME
dc.subjectPRIMARY ADRENAL INSUFFICIENCY
dc.subjectWD-REPEAT PROTEIN
dc.subjectADRENOCORTICAL INSUFFICIENCY
dc.subject4A SYNDROME
dc.subjectACHALASIA
dc.subjectALACRIMA
dc.subjectDEFICIENCY
dc.subjectALADIN
dc.subjectMANIFESTATIONS
dc.titleA broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia
dc.typearticle
dspace.entity.typePublication
local.avesis.idc760a8c0-b0e0-4837-baba-a8f537b686f8
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages12
local.journal.quartileQ2
oaire.citation.endPage196
oaire.citation.issue2
oaire.citation.startPage185
oaire.citation.titleJOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
oaire.citation.volume43
relation.isAuthorOfPublicationcd5bac46-bf24-476a-80cb-1cea576c283a
relation.isAuthorOfPublication.latestForDiscoverycd5bac46-bf24-476a-80cb-1cea576c283a

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