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Endocrine Abstracts (2013) 33 P85 | DOI: 10.1530/endoabs.33.P85

BSPED2013 Poster Presentations (1) (89 abstracts)

Kocher-Debre-Semelaigne syndrome: a report of three cases

Emine Dilek 1 , Tugba Genchellac 2 , Digdem Bezen 1 & Filiz Tutunculer 1


1Pediatric Endocrinology Unit, Faculty of Medicine, Trakya University, Edirne, Turkey; 2Department of Pediatrics, Faculty of Medicine, Trakya University, Edirne, Turkey.


Introduction: Kocher-Debre-Semelaigne sndrome (KDSS) is a rare association of muscular pseudohypertrophy and long standing moderate-to-severe hypothyroidism in pediatric age group. This report decribes three cases with KDSS.

Case 1: A 4-year-old girl was admitted to our department with growth failure and mental-motor retardation. She was diagnosed as primary hypothyroidism at the age of 15 days and was started on L-thyroxine but at the age of 6 months the therapy was discontinued by parents. Physical examination showed that her height SDS was −5.01, weight SDS −4.7. She had dry skin, psycomotor retardation, strabismus of the right eye and hypertrophy of both calf muscles. Laboratory findings revealed that TSH, >100 mIU/ml; fT4, <0.3 ng/ml (normal range, 0.80–1.58) and creatinine phosphokinase (CPK) level, 621 U/l (33–211).

Case 2: A 11 years 6 months old girl was admitted to our clinic with history of growth failure and weight gain in the last 1 year. On examination her height SDS was −2.03 while weight SDS was +0.32. She had coarse facial feature, athletic build and hypertrophy of both calf muscles.

Laboratory findings revealed that TSH, 250 mIU/ml; fT4, 0.13 ng/dl; antiTPO Ab, 383 IU/ml (0–35) and CPK level, 2502 U/l.

Case 3: A 10 years 9 months old girl was referred to our outpatient clinic with history of growth failure for 2 years. On physical examination her height SDS was −2.8, while weight SDS was +1.19. She had coarse facies and bilateral hypertrophied calf muscles. Laboratory values were TSH, 615 mIU/ml; fT4, 0.3 ng/dl; antiTPO Ab, 1000 IU/ml and CPK level, 2096 U/l.

Conclusion: We emphasize that because KDSS may be develop due to untreated hypothyroidism, musculoskeletal system should be carefully assessed in hypothyroid children and adolescence.

Volume 33

41st Meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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