Abstract

Introduction: Pediatric Endocrinologists see many children with congenital hypothyroidism. Complications from long standing untreated hypothyroidism reports are rare in children. This is a case report on an unusual presentation of hypothyroidism caused by noncompliance.Clinical Case: A 11-year-old boy with history for congenital hypothyroidism, lost for follow up for 10 months, presented to an outside hospital with pain on face, joints and all over his body. Initial labs showed elevated creatinine, liver enzymes and TSH >300 mcIU/mL with free T4 <0.1 ng/dL. He was transferred to University for further care. In our Emergency Room, patient had normal vitals. On exam he had puffy appearance, sluggish reflexes otherwise unremarkable exam. Chest X-ray was done due to cough and congestion symptoms and showed cardiomegaly. EKG showed low voltage complexes otherwise normal. ECHO obtained showed normal left ventricular function and small pericardial effusion. Cardiology recommended no intervention at this time. Endocrinology was consulted due to abnormal thyroid labs. Patient had normal mental status, no hypothermia or bradycardia or hypotension or hypoventilation. He had normal sodium. He had macrocytic anemia. Recommended to get creatinine kinase (CK) levels as he had elevated serum creatinine. CK levels came back at 3600 U/L. He was started on intravenous hydration and Synthroid. Doses were increased daily. Once serum creatinine trended down and glomerular filtration rate (GFR) normalized he was discharged home. CK was still elevated but trended down. He had Tanner 3 testes size on exam. His LH and testosterone levels were pubertal consistent with central puberty activation and not just macroorchidism. He was seen as outpatient a month after discharge. His thyroid levels were normal. Serum creatinine and CK had normalized and he continues to progress in puberty. Conclusion: Long standing untreated hypothyroidism can cause multiple organ dysfunctions. Our patient presented with cardiomegaly, acute kidney injury from rhabdomyolysis. It is important to look out for other system involvement as this happen rarely in children and myxedema coma can be life threatening.

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