Association of autoimmune polyendocrine syndrome and pigmental retinae degeneration in a 13 years old girl / M. Valuniene, R. Dobrovolskiene

Introduction: Autoimmune mediated diseases are rare in pediatric practice, but more often diagnosed in children with type 1 diabetes than in the general population. T1DM is one of the most frequent components of autoimmune polyendocrine syndrome and it often precedes the others. Aim: Clinical case report. Methodology: Clinical case of polyendocrinopathy and dystrophy retinae. Results: A girl aged 6 years born small for gestational age (2470 g, 40 weeks), presented with symptoms of severe diabetic ketoacidosis, short stature (-3.6 SD). Her diabetes control was constantly poor, with a few hypoglycemic seizures and severe ketoacidosis, low insulin requirements (0.6 U/kg/24 h). At the age of 9 years hypoparathyreosis was defined and treatment by Calcitriol was administered. Clinical assessment revealed chronic urinary tract infections, persistent vulvovaginitis, hypogonadism, epicanthus, ptosis, multiple pigmentary changes in retinae, muscular hypotonia, intensional tremor, disorder of coordination, mental retardation. Growth hormone stimulation test with clonidine showed a poor STH response with a plasma growth hormone levels of 0.26, 0.37, 5.5, 0.85 ng/ml at 0¢, 30¢, 60¢, 90¢ (normal response > 10ng/ml) and normal STH response with levodopa – 7.1, 8.1, 11, 8.4 ng/ml at 0, 30, 60, 90 min. Aged 13 years she presented with increased weakness, lethargy, hypotension, mild hiperpigmentation. She was prepubertal (stage B1P1; LH < 0.2 IU/L, FSH < 0.2 IU/L, E2 = 120 pmol/l), height – 118 cm (-6.3 SD), growth velocity – 3 cm/yr, weight – 19 kg. A short Synacthen stimulation test showed a normal cortisol response with plasma cortisol levels of 397 nmol/l, 684 nmol/l, 776 nmol/l at 0¢, 30¢, 60¢. Baseline ACTH was 1.73 pmol/l, and electrolytes were normal. Conclusion: T1DM, hypoparathyreosis, persistent vulvovaginitis, hypogonadotropic hypogonadism, short stature can be associated with autoimmune polyendocrine syndrome type 2. Also this rare combination of p.