Endocrine Abstracts

Introduction: Type 1 autoimmune polyglandular syndrome is a rare entity, presenting typically during childhood and comprising a variable combination of autoimmune endocrine and non-endocrine diseases that differ in their immunological features. This phenotypical heterogeneity may difficult the identification of this syndrome.

Clinical case: 33 year-old female, presenting with secondary amenorrhoea at the age of 13, and by that date diagnosed with hypergonadotropic hypogonadism (HH) and primary autoimmune hypothyroidism. By the age of 14 she was diagnosed with primary hypoparathyroidism. She has a family history of two maternal cousins presenting with primary hypothyroidism. The height and weight developments were normal. When she was 30 years old she was referred to the adult Endocrinology consultation for follow-up. The patient complained of progressive asthenia during more than one year. Physical examination did not show any relevant findings, namely skin and mucosal hyperpigmentation. The analytical results revealed serum cortisol – 3.7 μg/dl (3.7–19.4), ACTH – 451.7 pg/ml (7.2–63.3), TSH – 3.04 μUI/ml (0.35–4.94), free T4 – 1.42 ng/dl (0.7–1.48), free T3 – 2.34 pg/ml, (1.71–3.71), anti-thyroglobulin antibodies – 6.3 UI/ml (<4.11), anti-TPO antibodies – 14.7 UI/ml (<5.61), ionized calcium – 1.07 nmol/l (1.15–1.35), parathormone – 7.8 pg/ml (15.0–68.3), anti-parietal cell antibodies – positive, vitamine B12 – 328 pg/ml (189–883), creatinine – 1.1 mg/dl (0.6–1.1), urea – 41 mg/dl (15–40) and GFR – 66.20 ml/min/1.73 m². OC was temporarily suspended confirming the diagnosis of HH: LH – 39.23 mUI/ml (2.39–74.24), FSH – 92.22 mUI/ml (3.35–20.82), oestradiol – 19 pg/ml (21–649). The renal echography did not reveal any abnormalities and the bone densitometry showed secondary spinal osteopenia. She is presently medicated with hydrocortisone 15 mg and fludrocortisone 0.05 mg daily due to the primary adrenal insufficiency. She maintains desogestrel 75 μg, L-thyroxine 112 μg, calcium carbonate and initiated calcitriol 25 μg every 12 h.

Conclusions: Type 1 polyglandular autoimmune syndrome shows not only heterogeneity in respect to the nature of the several possible disease components, but also in regard to their temporal presentation, which in the past was admitted to be more predictable. The positivity to anti-parietal cell antibodies and the decline in the renal function underline the importance of monitoring for the development of pernicious anaemia and tubulointerstitial nephritis.