Hypercalcaemia As an Indication of Adrenal Insufficiency in A

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ESPE 2015 APECED Molecular genetic analysis is anticipated to confirm the diagnosis of up and a candidiasis scalp lesion was detected. later she presented in our endocrinology department for herscheduled follow calcitriol, having normal electrolytes and low normal calcium. Eight months The patient was followed regularly, treated with hydrocortisone, calcium and fever. complaining of fatigue and abdominal pain for five days, without vomiting, nor treated with calcium and calcitriol, presented at the endocrinology department, An 8year old girl, who was known to have hypoparathyroidism and she was treated hydrocortisonewith she wasrapidlyimproved. and Which confirmed the diagnosisadrenal of failure. The patient was 148.2 ng/ml/h 4.PRA: 3.anti production (5.84 2.decreasedcortisol (3465 levels 1.elevated ACTH laboratoryFurther investigation demonstrated: On physical examination she was pale with poor skin turgor, low normal blood which suggested the possibility ofadrenal failure m 3.hyperkalemia 5.8 m 125 2.hyponatremia 1.hypercalcaemia 11.6mg/dl investigationblood revealed initial The 633-P3 Autoimmune polyendocrinopathy the mutation of the AIRE gene on chromosome 21. is characterizedIt by 3 main diseases: chronic mucocutaneous candidiasis The presence of abdominal pain and pain abdominal presence of The (CMC), chronic(CMC), hypoparathyroidism (HP) and Addison’s disease and (AD), can be associated with other autoimmune diseases

insufficiency which has to be investigated and treated on an emergency basis. Moreover, as the timing of theappearance of th adrenal antibodies were present. -adrenalantibodies were individual disorders varies, a high level of suspicion regarding the development of associated HYPERCALCAEMIA AS AN INDICATION OF ADRENAL INSUFFICIENCY IN A

PATIENTPOLYENDOCRINOPATHYWITH AUTOIMMUNE EIRINI DIKAIAKOU EIRINI Misc 1 1.Dept. of Endocrinology of 1.Dept. Dikaiakou E.¹, E.¹, Dikaiakou Vlachopapadopoulou E.¹, Panagiotopoulos I.¹, E.¹, Anagnostou 2. Biochemistry Dept. 2. adrenal failure, as well as informing parents of thepossible symptoms is ofoutmost importance pressure and mildly pressure Eq/l

Eq/l

Case presentation Case /ml) pg Further investigation Physical examination Laboratory findings Follow up -candidiasis ECTODERMALDYSTROPHY (APECED) :

μg/dl) tachycardic - - hypercalcaemia Growth and Development, Children's Hospital P. & A. Kyriakou, Athens, Greece Hormones Laboratory, Children's Hospital P. & A. Kyriakou, Athens, Greece and/or manifestations of ectodermal dystrophy.

-ectodermal dystrophy is arare (APECED),inherited disease of childhood, caused by

in a patient with hypoparathyroidism should raise the suspicion of adrenal Introduction DOI: 10.3252/pso.eu.54espe.2015

Conclusion

opposing the effectsopposing calcium Dandincreaseurinary excretion of vitamin absorption intestinal calcium decrease glucocorticoids 3. Endogenous production stanniocalcin to decreased due calcium maybeelevated calcium. reduces circulating insufficiency, ofstate adrenal Thus, ina blood 2. which stanniocalcin, a paracrinehormonecalled The adrenalglandproduces remodelingto boneprocess. unrelated urinary hydroxyprolineexcretion, markedhypercalciuriaand presenceof bythe from boneandissupported ofreleased to anincrease calcium calcium levels aredue 1.The elevated hypercalcemia to insufficiency Mechanisms proposed to explain thecausalrelationship of adrenal AIRE gene mutations (a) andfunctionalgene mutationsdomains(a) AIRE of Clinical features of AIRE deficiency/APECED presented Poster mucocutaneous hypoparathyroidism, and at: corresponding proteins (b) corresponding proteins otinou A.², Michalacos S.¹ Michalacos Fotinou A.², The classictriad adrenal failure

-CANDIDIASIS- endocrinopathies .

candidiasis, is

in particular