Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2010) 24 P59

BSPED2010 Poster Presentations (1) (59 abstracts)

An unusual spectrum of phenotype in autoimmune polyendocrinopathy syndrome type 1: a case series of 5 patients within a single centre

R P Dias , V Hakeem , C Peters , J Baker , P C Hindmarsh & M T Dattani


Great ormond Street Hospital NHS Trust, London, USA.


Introduction: The Autoimmune Polyendocrinopathy Syndromes (APS) comprise 4 clinical subtypes (1–4), APS type 1 is an autosomal recessive disorder caused by mutations in the AIRE (Autoimmune Regulator) gene. It should include at least 2 of the following 3 major criteria: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HPT) and adrenal insufficiency (AI) although 50% of patients develop all 3 features, usually before the age of 20 years. In addition, there are several minor features that have been associated in a variable proportion of patients which can present at any stage. The aim of this case series is to highlight unusual clinical phenotypes seen in a paediatric population with APS type 1.

Methods: Retrospective review of case notes of patients with clinical APS type 1.

Results: Four patients were identified with clinical APS type 1. All the patients were Caucasian. Patients 1–3 have a known homozygous AIRE mutation.

Discussion: The five patients described demonstrate the range of conditions seen in APS type 1. Thus far, there has been limited genotype: phenotype correlation. Chronic active hepatitis and hypergonadotrophic hypogonadism can present in up to 50% of patients. Malabsorption including pancreatic insufficiency present in up to 20%. Of note autoimmune colitis and interstitial nephritis have not been described before in this condition.

PatientSexMajor criteriaOther features
1MAI; CMCPolyarticular JIA; autoimmune colitis; exocrine pancreatic insufficiency; vitiligo; hypothyroidism
2MAI; HPT Hypothyroidism; persistent transaminitis (chronic active hepatitis – CAH)
3FHPTHypothyroidism; primary ovarian failure; renal failure (secondary to nephrocalcinosis)
4MAI; CMC; HPTEctodermal dysplasia; alopecia totalis; interstitial nephritis
5FAI; CMC; HPTCAH; dental hypoplasia; primary ovarian failure

Volume 24

38th Meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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