A rare combination of endocrinopathies associated with Camurati-Engelmann disease.

A case report of a patient with the rare autosomal dominant Camurati-Engelmann Disease (CED) associated with primary hypothyroidism, hypogonadotrophic hypogonadism and central diabetes insipidus is discussed. A thirty-five year old female with CED followed up for the past 27 years in our institution has pathognomonic musculo-skeletal features and multiple endocrinopathies. The clinical history, examination, ultrasound and laboratory investigations over the 27 years were evaluated. Conclusions: The clinical presentation of patients with CED is extremely variable. Although the endocrine glands are rarely affected, it is important to understand that endocrine dysfunction may manifest at different time in the progression of CED and respond well to replacement therapies. Taken together with the unpredictable genotype-phenotype correlations, regular endocrine, neurological and cardiac assessments as well as screening for other endocrinopathies are necessary. To the best of our knowledge, this is the first case of CED presented with a combination of the above three endocrinopathies reported in the literature.

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