Introduction: Autoimmune polyglandular syndrome type 1 (OPS1) is characterized by chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenalitis. The mutations in the localized autoimmune regulator gene (AIRE) at 21q22.3 present the etiological cause.
Objective: In this case report, two siblings case who were diagnosed with OPS1 with different clinical findings except classic triad were presented.
Case 1: The 16 year old male patient was admitted with short stature. His height was shorter than his peers since his infancy. The target height was calculated 160.3 cm (-2.58 SDS). No constitutional history was found in the family. On physical examination, height 143 cm (-4.46 SDS), weight 32 kg (-3.17 SDS), testicular volume 3/3 ml, pubic hair was Tanner stage 1. In the other system examination, alopecia totalis, vitiligo, dystrophic changes in the nails and oral candidiasis were found. In laboratory examination, glucose: 525mg/dL, TIT: ketone (-), glucose (++), HbA1c: 7.4%, C-peptide: 0.81ng/mL, AntiGAD 37U/mL (N, <10), anti-insulin antibody 2.6U/mL (N, <10) was determined and the patient was diagnosed with type 1 DM. Due to the accompanying clinical findings, OPS was considered and the examinations of which results were shown in Table 1 were performed.
Case 2: The 12-year-old girl who is sibling of the case 1 had been followed-up at our outpatient clinic with a diagnosis of hypoparathyroidism since the age of three years; and had been monitored with oral elemental calcium, calcitriol and sevelamer treatments. On her physical examination, weight: 46.8 kg (-0.02 SDS) height: 152.5 cm (-0.37 SDS), breast development was Tanner stage 1. Dystrophic changes were present in the finger and toenails. No additional pathology was determined in the other system examination. The results of the laboratory examinations are shown in Table 1.
Clinical Course: Type 1 DM, mucocutaneous candidiasis, alopecia, vitiligo, ectodermal dystrophy observed in the first case and hypoparathyroidism, ectodermal dystrophy and autoimmune thyroiditis were observed in the second case. c.769C> T nonsense homozygous mutation was detected in the sixth exon of the AIRE gene in both patients. Patients were provided outpatient clinic observation in case of possible emerging endocrinopathy.
Conclusion: It should be kept in mind that (1) main cardinal findings of OPS 1 may develop in different time periods, and (2) adrenal insufficiency and other autoimmune pathologies (hypogonadism, diabetes, vitiligo, thyroiditis, hypophysitis, chronic atrophic gastritis, malabsorption etc.) should be closely monitored in terms of their development.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology