ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

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

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

Emine Dilek1, Tugba Genchellac2, Digdem Bezen1 & Filiz Tutunculer1


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.

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