Van Wyk-Grumbach Syndrome with Kocher-Debré-Sémélaigne Syndrome: Case Report of a Rare Association.

BACKGROUND

Van Wyk-Grumbach syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudoprecocious puberty, and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debré-Sémélaigne (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudohypertrophy, delayed contraction and relaxation of reflexes, and percussion myxedema.

OBJECTIVES

To diagnose the rare association of VWGS and KDSS and to conduct a follow-up of the patient on replacement therapy.

METHODS

We present a case of a 9-year-old female child who presented to the endocrine department with complaints of intermittent vaginal bleeding, short stature, and difficulty in walking. On evaluation she was found to be having autoimmune hypothyroidism, FSH-dominated isosexual pseudoprecocious puberty, delayed bone age, secondary pituitary macroadenoma, delayed relaxation of deep tendon reflexes, and pseudohypertrophy of calf muscles. The diagnosis of VWGS associated with KDSS was made. The patient was initially put on 25 μg thyroxine replacement, which was titrated accordingly, and was followed up after 6 months and 1 year.

RESULTS

All the features of the syndrome improved after 12 months of adequate thyroxine replacement.

CONCLUSIONS

VWGS and KDSS are rare presentations of juvenile hypothyroidism, and their association is even rarer. Early diagnosis and prompt replacement therapy can avoid unnecessary investigations and surgical interventions.