ESPE Abstracts (2014) 82 P-D-3-1-936

Association of Van Wyk Grumbach and Debre Semelaigne Syndromes in Two Cases with Severe Hypothroidism

Fatma Demirela, Alkim Odenb, Meltem Tayfuna, Ahmet Ucakturka & Ali Gungorb


aDepartment of Pediatric Endocrinology, Ankara Children’s Hematology and Oncology Training Hospital, Ankara, Turkey; bDepartment of General Pediatrics, Ankara Children’s Hematology and Oncology Training Hospital, Ankara, Turkey


Background: Van Wyk Grumbach (VWG) and Kocher Debre Semelaigne (KDS) syndromes are rare syndromes with clinical manifestation of hypothyroidism associated with precious pseudo puberty and myopathic pseudomuscular hypertrophy. We present two cases that have the characteristic of both VWGS and KDSS syndromes developed in association with a long-term untreated hypothyroidism.

Case 1: Seventeen years old girl was referred to our hospital due to menstrual irregularities and multicystic ovaries. In her medical history, she was assessed for vaginal bleeding, and diagnosed congenital hypothyroidism when she was 5. But she was noncompliant with her treatment. At the age of 11, her menstrual cycle started again, but she complains oligomenorrhea. On her physical examination, she had coarse facial appearance and marked hypertrophy of both calves. Her pubertal development was in stage 4, and she had all the clinical and laboratory signs of severe hypothyroidism such as mental retardation, short stature, high TSH and low free T4 levels. Bone age was consistent with the age of 17. In laboratory evaluation also blood creatinine and creatinine kinase (CK) levels were 1.21 mg/dl and 254 U/l respectively.

Case 2: Thirteen years old boy was referred to our clinic because of severe muscle pain, hypothyroidism, and goiter. His physical examination showed that his weight was 45 kg (10–25 p), and his height was 149 cm (3–10 p). He had dry skin, coarse facial features, grade 2 goiter and muscular pseudohypertrophy. Both testes were 25 ml in size. Laboratory investigations showed TSH 100 mIU/ml, fT4 0.2 ng/dl, thyroid peroxidase antibody >1072 IU/ml, LH 0.67 μIU/ml, FSH 3.22 mIU/ml, testosterone 2.01 ng/ml, CPK 2537 U/l, and serum creatinin level was 1.15 mg/dl.

Conclusion: Both patients were diagnosed with VWGS and KDSS. Therefore, long-term untreated hypothyroid patients should be evaluated for these syndromes.

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