Association between Alport’s Syndrome and Familial Goiter

J. P. Gayno, MD, Service Central de Médecine Nucléaire, Hôpital La Pitie, Université Pierre et Marie Curie, Paris (France) Dear Sir, Alport’s syndrome [1] is a hereditary glomerular nephropathy which may lead to chronic renal insufficiency, especially in males; it has been found associated with many extrarenal abnormalities among which nerve deafness is the most common. An obvious thyroid abnormality must be rare since Gubler er al. [2] did not mention any in 58 cases of Alport’s syndrome. Only Miyoshi et al. [3] have reported two families with antithyroid antibodies. We report the presence of thyroid disorders in one family with Alport’s syndrome. The family tree (fig. 1) shows 17 members, 8 of which had a nephropathy and 6 a thyroid disorder. Severity of the nephropathy was found variable in the 8 affected cases. Subjects 7, 8,10 and 13 had chronic renal insufficiency from glomerulonephritis cause of 3 early deaths at an average age of 23, all 3 being males and suffering from deafness. Subjects 1, 5 and 12 had permanent albuminuria and macroscopic hematuria. Subject 9 had intermittent microscopic hematuria only. Thus, Alport’s syndrome is confirmed in this family. In the same kindred, 6 cases of thyroid disorder were found including 5 obvious goiters. 3 (subjects 1, 3 and 11) were euthyroid goiters although subject 11 developed hypo-thyroidism after excision of the goiter. In addition, evidence for 3 cases of primary thyroid insufficiency (subjects 13 and 15 with goiter and subject 16 without) was provided by the serum TSH levels: 100, 34 and 10 μU/ml respectively (normal value 3.5 ± 1.4 μU/ml). 2 of these cases were clinically euthyroid siblings (subjects 15 and 16) and thyroid investigation disclosed low 123I radioiodine uptake (14% at 1 h), negative perchlorate discharge test and normal T4 and T3 serum concentrations. The young age of these siblings precludes any further thyroid investigation, and the mechanism of the thyroid disorder remains uncertain. The discrepancy observed between the raised TSH and the low thyroid uptake suggests that some resistance to TSH takes place while the goitrogenic effect of TSH remains