In a time of widespread availability of thyroid lab tests plenty of patients are reported to endocrine clinics because of isolated slightly increased TSH value and many papers are dedicated disscussion of precautions to treatment in subclinical hypothyroidism. Simultaneously in the same places other patients develop severe hypothyroidism without proper diagnosis. What is the reason of missing diagnoses?
The Aim: Clinical characteristics of severe hypothyroidism in children. Identification of the reason of delayed diagnosis of severe hypothyroidism.
Methods: Patients with severe acquired primary hypothyroidism were enrolled to the study. The basic criterion was elevated TSH above 100 mIU/L. We analysed the clinical symptoms, time of diagnosis, referral reason, kind of thyroid disease and results of laboratory tests.
Results: In years 20072018 twenty one patients of our clinic met above criteria. Severe hypothyroidism was diagnosed in 20 patients with autoimmune atrophic thyroiditis and one patient with thyroid ectopy. The mean age at diagnosis was 10.32±3.53 years. Female predominance was 5:2. None of patients had goiter. Reported symptoms in order of the most frequent: slow rate of growth (77%), weight gain (60%), anaemia (40%), dry skin (37%), myxoedema (33%), loss of appetite (33%), constipation (27%), weakness (27%), somnolence (25%), lower physical activity (20%), hair loss (20%), noticeable bradycardia (20%), feeling cold (13%), hypertrichosis (13%), pituitary hypertrophy (5%). The mean time from the occurrence of the symptoms to the diagnosis ranged from 3 months to 6 years (the mean value 22.9±20.32 months, median 19 months). TSH level at the time of diagnosis was 499.02±234.55 uIU/ml, (range: 171.22 921.66 uIU/ml) normal range of method: 0.583.59 μIU/ml. The mean level of fT4 0.348±0.11ng/dl (normal range 0.781.31ng/dl), the mean fT3 level 1.33±0.79 pg/ml, (normal range 2.173.77 pg/ml). Anti-TPO antibodies: the mean value 2165±2565.35 IU/ml (normal range <5.6 IU/ml) and anti-Tg antibodies: the mean value 854.5±1189.65 IU/ml (normal range <4.1 IU/ml) were detected. In one patient anti-TSH receptor antibodies were detected (ECLIA, Roche). The patients before the endocrine consultation were evaluated by specialists of dermatology, cardiology, alergology and haematology.
Conclusion: Despite the patients presenting typical symptoms of hypothyroidism the diagnosis was delayed in majority of them. The lack of goiter can be the potential reason why thyroid disease is not considered at the beginning of diagnostic process.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology