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The authors experienced a 9-year-old male patient with Kocher-Decre-Semelaigne syndrome, hypothyroidism with generalized muscular hypertrophy. He was admitted with puffy face, abdominal distension, retarded growth, mental retardation, generalized muscular hypertrophy and hypertonia. Thyroid function test revealed
hypofunction and thyroid gland was not visualized by 99raTc scintiscan. The stigmas of hypothyroidism and the muscular hypertrophy disappeared promptly after synthyroid replacement. Muscular biopsy... |