THYROID-GLAND ABNORMALITIES IN PATIENTS WITH THE SYNDROME OF SPOTTY SKIN PIGMENTATION, MYXOMAS, ENDOCRINE OVERACTIVITY, AND SCHWANNOMAS (CARNEY-COMPLEX)

Carney complex is a multiple neoplasia and lentiginosis syndrome that affects endocrine glands, including the pituitary, adrenals, and teste s; thyroid gland involvement has not been unequivocally dem onstrated. In the present study, the medical records of 12 families with Carney complex (53 affected patients) were reviewed for evidence of thyroid a bnormality; 2 patients with thyroid carcinoma (1 papillary and 1 folli cular; 3.8%) and 1 with follicular adenoma were identified in 3 unrela ted kindreds. Six affected members of these kindreds were then screene d for the presence of thyroid disease (familial cases). We also studie d 5 patients with the complex who had no affected relatives (sporadic cases). These 11 patients consisted of 5 adults [mean age, 33.2 +/- 9. 2 (+/-SD) yr] and 6 children and adolescents (mean age, 13.8 +/- 2.5 y r). All had normal results of physical and biochemical examination of the thyroid gland (total and free T-4, T-3, and TSH levels). Thyroid u ltrasonography showed hypoechoic, cystic, solid, or mixed lesions in 3 of the 5 adults (60%) and 4 of the 6 children (67%). Two patients und erwent fine needle aspiration biopsy, which identified follicular lesi ons. Thyroid gland abnormalities were documented in 5 siblings and 1 p arent-child pair. We conclude that thyroid gland pathology is 1) commo n in patients with Carney complex; 2) includes a spectrum of abnormali ties ranging from follicular hyperplasia and/or cystic changes to carc inoma; and 3) is inherited in an autosomal dominant manner, like the o ther manifestations of the syndrome; it is therefore, a candidate comp onent of the syndrome. Ultrasonography is useful in the detection and clinical follow-up of these lesions.