Endocrine Abstracts

Objective

Presentation of multinodular goiter as an unusual feature in a patient with Williams-Beuren Syndrome.

Methods

Review of the patient’s clinical records and of the relevant literature.

Introduction

The Williams-Beuren Syndrome is a multisystem disorder caused by a microdeletion of 1.5–1.8 megabase pairs on chromosome 7q11-123, with loss of 26–28 genes centered around ELN, which codifies elastin. The partial loss of elastin is the cause of cardiovascular abnormalities, particularly supravalvular aortic stenosis and other arterial stenoses. Most patients are hypertensive, and prone to stroke and sudden death. The phenotype of Williams-Beuren patients includes growth failure with adult short stature, a characteristic facial appearance, and mental retardation with a friendly, sociable character. The endocrine manifestations include precocious puberty, partial GH deficiency, hypercalcemia, osteopenia/osteoporosis, glucose intolerance or type 2 diabetes mellitus. Up to of Williams-Beuren patients develop subclinical or overt hypothyroidism, often not requiring treatment; in some cases the hypothyroidism is congenital with associated thyroid hypoplasia. Antithyroid antibodies are usually negative. Goiter is, however, not included in the usual descriptions of the syndrome.

Case description

A 45 year old male patient had been diagnosed with Williams-Beuren syndrome, and had the characteristic facies (short nose with upturned tip, small chin) and mild mental retardation. A cardiology workup had shown hypertension, systolic murmur, supravalvular aortic stenosis and mild mitral regurgitation, with preserved ventricular function; normal sinus rhythm with isolated ventricular extrasystoles. He was on treatment with delapril, manidipine, atenolol and hydrochlorothiazide. He had complained of an indolent cervical lump in the last year, without symptoms of thyroid dysfunction or local compression and was referred to our Endocrinology Clinic. Physical examination showed: Height 161 cm, Weight 75 kg, BMI 28.9 kg/m², diffusely enlarged thyroid gland, non-painful, without adherence, increased consistency, palpable nodules or adenopathies. Lab tests showed: Blood glucose 129 mg/dl, HbA_1C 6.2%, LDL-cholesterol 117 mg/dl; TSH 1.89 µU/ml, negative antithyroid antibodies. Cervical ultrasonography showed an enlarged thyroid gland with 6.5 cm (left lobe) and 6.2 cm (right lobe) craniocaudal diameter, and multiple subcentimeter colloid cysts, not susceptible of FNAC. Thyroid scintigraphy showed diffuse hyperplasia. The additional diagnoses were micronodular euthyroid goiter, overweight, type 2 diabetes mellitus and dyslipidemia.

Conclusions

Although mild hypothyroidism is common in patients with Williams-Beuren syndrome, goiter is not usually described. Its presence in our patient might be coincidental, but cervical ultrasonography for goiter screening may be considered.