Introduction: Hypothyroidism is one of the commonly diagnosed endocrinopathy in children. The typical manifestations of a hypofunctioning thyroid are lethargy, somnolence, dry skin, cold intolerance, constipation, weight gain and bradycardia along with faltering height. Hypothyroidism presenting with typical manifestations is therefore readily suspected and diagnosed. Occassionally, the patients might present with unsual clinical features which might mimic other conditions thereby delaying the management.
Methodology: This was a retrospective study conducted in the Department of Pediatrics, JNMCH, AMU, Aligarh, India analysing the hospital records between January 2017 till January 2019. The diagnosis of primary hypothyroidism was established by thyroid function tests in all the cases coupled with investigations as required. All the patients diagnosed with hypothyroidism as a work-up protocol for other diagnoses leading to primary diagnosis of hypothyroidism were included.
Observation: A total of 22 children (age 5 years 16 years; M:F 14:8) were identified as having hypothyroidism associated with other primary manifestations. Three children presented with precocious puberty (Van Wyk- Grumbach syndrome), 2 with ruptured ovarian cyst, 5 with pseudo hypertrophy of calf muscles (Hoffman's syndrome), 2 with psychosis, 1 with Cutis Marmorata, 5 with pericardial effusion and 4 with macrocytic anaemia. Almost all the children had associated short stature though it was not the presenting issue.
The mean time from the occurrence of the symptoms to the diagnosis ranged from 6 months to 6 years (17.9+10.3 months). Mean levels were as follows: TSH 232+57.4 uIU/ml, FT4 0.21+0.09ng/dl, FT3 1.23+0.63 pg/ml, Anti-TPO antibodies 215+65.35 IU/ml and anti-Tg 454.9+189.3 IU/ml.
The patients were initiated on thyroid hormone replacement and significant improvement in symptoms was observed in all the cases
Conclusion: Awareness about atypical and uncommon manifestations of hypothyroidism is crucial and one needs to consider hypothyroidism whenever confronted with atypical manifestations.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology