CASE REPORT
Autoimmune polyglandular syndrome type 2 in an 15-year-old boy
1
Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland
2
Academic Centre of Dentistry and Specialized Medicine Limited Liability Company, Bytom, Poland
3
Department of Pediatric Endocrinology, Public Clinical Hospital No. 1 Zabrze, Zabrze, Poland
4
Department of Children’s Diabetology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland
Submission date: 2022-01-26
Final revision date: 2022-02-24
Acceptance date: 2022-02-24
Publication date: 2022-06-10
Pediatr Pol 2022;97(2):151-155
KEYWORDS
Addison’s diseasediabetes mellitus type 1autoimmune polyglandular syndromerare diseasescarpenter syndrome
TOPICS
ABSTRACT
Autoimmune polyendocrine syndromes (APS) include a diverse group of clinical conditions, characterized by functional impairment of many endocrine glands. Type 2 APS is characterized by the mandatory presence of Addison’s disease, which may be associated with either autoimmune thyroid diseases as a Schmidt’s syndrome or type 1 diabetes mellitus as a Carpenter syndrome.
The described patient with well-controlled diabetes mellitus type 1, presented with sudden, frequent episodes of hypoglycemia, daytime somnolence and weariness, as well as remarkable hyperpigmentation of the skin. Laboratory tests revealed adrenal insufficiency with a positive titer of anti-adrenal antibodies, which led to APS-2 diagnosis in the presented case.
As the clinical outcome at the early onset of the APS-2 is not distinctive, the authors would like to emphasize the significance of screening methods, especially in patients with other hormone abnormalities, to protect them from the consequences of life-threatening disturbances.
The described patient with well-controlled diabetes mellitus type 1, presented with sudden, frequent episodes of hypoglycemia, daytime somnolence and weariness, as well as remarkable hyperpigmentation of the skin. Laboratory tests revealed adrenal insufficiency with a positive titer of anti-adrenal antibodies, which led to APS-2 diagnosis in the presented case.
As the clinical outcome at the early onset of the APS-2 is not distinctive, the authors would like to emphasize the significance of screening methods, especially in patients with other hormone abnormalities, to protect them from the consequences of life-threatening disturbances.
REFERENCES (20)
1.
Schmidt MB. Eine biglandulare Erkrankung (Nebennieren und Schilddrüse) bei Morbus Addisonii. Verh Dtsch Ges Pathol 1926; 21: 212-221.
2.
Morawiecka-Pietrzak M, Bryłka A, Blaska M, et al. Choroba Addisona u 10-letniej dziewczynki – opis przypadku. Stand Med, Pediatr 2019; 16: 490-493.
3.
Zirilli G, Santucci S, Cuzzupe C, et al. Peculiarities of autoimmune polyglandular syndromes in children and adolescents. Acta Biomed 2017; 88: 271-275.
4.
Pham Dobor G, Hanák L , Hegyi P, et al. Prevalence of other autoimmune diseases in polyglandular autoimmune syndromes type II and III. J Endocrinol Invest 2020; 43: 1-9.
5.
Michels AW, Gottlieb PA. Autoimmune polyglandular syndromes. Nat Rev Endocrinol 2010; 6: 270-277.
6.
Michels AW, Eisenbarth GS. Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). J Intern Med 2009; 265: 530-540.
7.
Ballarini A, Lee-Kirsch MA. Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes. Ann N Y Acad Sci 2007; 1110: 159-165.
8.
Hügle B, Döllmann R, Keller E, et al. Addison’s crisis in adolescent patients with previously diagnosed diabetes mellitus as manifestation of polyglandular autoimmune syndrome type II – report of two patients. J Pediatr Endocrinol Metab 2004; 17: 93-97.
9.
Schulz L, Hammer E. Autoimmune polyglandular syndrome type II with co-manifestation of Addison’s and Graves’ disease in a 15-year-old boy: case report and literature review. J Pediatr Endocrinol Metab 2020; 33: 575-578.
10.
Smith RK, Gerrits PM. A rare case of autoimmune polyglandular syndrome type 2 in a child with persistent fatigue. Glob Pediatr Health 2019; 6: 2333794X1984507-5.
11.
Papathanasiou A, Kousta E, Skarpa V, et al. Growth hormone deficiency in a patient with autoimmune polyendocrinopathy type 2. Hormones (Athens) 2007; 6: 247-250.
12.
Heves K, Yesiltepe Mutlu RG, et al. Autoimmune polyglandular syndrome type 2: a rare condition in childhood. J Clin Res Pediatr Endocrinol 2015; 7: 80-82.
13.
Passanisi S, Timpanaro T, Lo Presti D, et al. Recurrent hypoglycaemia in type-1 diabetes mellitus may unravel the association with Addison’s disease: a case report. BMC Res Notes 2014; 7: 634.
14.
Arya PVA, Kumar J, Unnikrishnan D, et al. Case of autoimmune polyglandular syndrome type 2: how we uncovered the diagnosis. BMJ Case Rep 2019; 12: e227187.
15.
Kahaly GJ, Frommer L. Autoimmune polyglandular diseases. Best Pract Res Clin Endocrinol Metab 2019; 33: 101344.
16.
Charmandari E, Nicolaides NC, Chrousos GP. Adrenal insufficiency. Lancet 2014; 383: 2152-2167.
17.
Chantzichristos D, Eliasson B, Johannsson G. Management of endocrine disease. Disease burden and treatment challenges in patients with both Addison’s disease and type 1 diabetes mellitus. Eur J Endocrinol 2020; 183: R1-R11.
18.
Re RN, Kourides IA, Ridgway EC, et al. The effect of glucocorticoid administration on human pituitary secretion of thyrotropin and prolactin. J Clin Endocrinol Metab 1976; 43: 338-346.
19.
Marks SD, Girgis R, Couch RM. Screening for adrenal antibodies in children with type 1 diabetes and autoimmune thyroid disease. Diabetes Care 2003; 26: 3187-3188.
20.
Mahmud F, Elbarbary N, Fröhlich E. ISPAD Clinical Practice Consensus Guidelines 2018 other complications and associated conditions in children and adolescents with type 1 diabetes. Pediatr Diabetes 2018; 19: 275-286.
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