Introduction:Hypothyroidism is the most common endocrine disorder in children and presented with various sign and symptoms; its diagnosis needs a high index of suspicion.Case Presentation:We report 3 cases with unusual presentations of hypothyroidism and with delay in diagnosis that referred to Pediatric Endocrine Outpatient Clinic in Mashhad University of Medical Sciences, Mashhad, Iran with different clinical manifestations. They had decreased Thyroxin (T4) and increased thyroid stimulating hormone (TSH) levels. One case had mental retardation and deafness, but the other two cases had normal neurodevelopment. Some additional interesting findings were as follows: short stature, delayed bone age, teeth eruption impairment, hair loss, anemia and hypercholesterolemia, persistent and long-term constipation that had led to several abdominal surgeries. After a year of hormonal replacement therapy, their growth parameters and hematological values improved.Conclusions:We recommend thyroid hormonal evaluation for any children with short stature, especially with delayed bone age, in order to detect and treat hypothyroidism at the right time. It seems that more attention to pediatric growth is necessary.
chromosome 10p and monosomy 15q26.3->qter which contains the region coding for IGF1R. IGF-1(243 mg/L) and IGFBP-3 (3501 ng/ml) levels were markedly elevated; +4.7 SDS and +3.3 SDS respectively. The marked elevation in IGF-1 levels was considered a relative contraindication to GH therapy. Discussion Haploinsufficency of IGF1R gene is associated with elevated levels of IGF-1 as a result of target organ resistance. Exogenous growth hormone, while further elevating IGF-1, in many cases facilitates catch-up growth albeit to a lesser extent than other ex-SGA infants. In this case IGF-1 levels were exceptionally high, precluding growth hormone therapy. Conclusion Deletions involving the IGF1R gene are a rare but treatable cause of short stature. This case is unusual however, as marked elevation of IGF-1 at baseline precluded GH therapy.
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