Background: Van Wyk Grumbach Syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudo-precocious puberty and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debre-Smeglaine Syndrome (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudo-hypertrophy, delayed contraction and relaxation of reflexes, along with percussion myxedema.
Objective and hypotheses: To diagnose the rare association of Van Wyk Grumbach Syndrome (VWGS) and Kocher-Debre-Smeglaine Syndrome (KDSS) and follow up of the patient on replacement therapy.
Method: We present a case of 9 year female child who presented in endocrine department with complains of intermittent vaginal bleeding, short stature and difficulty in walking. On evaluation she was found to be having autoimmune hypothyroidism, FSH dominated isosexual pseudo-precocious puberty, delayed bone age, secondary pituitary macro-adenoma, delayed relaxation of deep tendon reflexes and pseudo-hypertrophy of calf muscles. The diagnosis of Van Wyk Grumbach Syndrome (VWGS) associated with Kocher-Debre-Smeglaine Syndrome (KDSS) was made. The Patient was put on initially on 25 mcg thyroxine replacement which was titrated accordingly and was followed after 6 months and one year.
Results: All the features of syndrome improved after 12 months of adequate thyroxine replacement.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology