Thyroid hemiagenesis in two sisters

Abstract

Two sisters with thyroid hemiagenesis are described. The patients presented diffuse thyroid enlargement of right lobe. The left lobe and isthmus were absent and thyroid scans were similar in both cases. The patients were clinically euthyroid. Basal serum thyroid hormones and TSH were within normal range, but TSH response to TRH administration was exaggerated in both patients. The finding of familial occurrence and the same functional and morphological characteristics of remnant thyroid tissue in both cases suggest a genetic determination for this abnormality.

Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases

“…Although THG has usually been considered sporadic, a report of absence of the right lobe in two sisters strongly suggests a role for an inherited factor (31). In the present study, we found that 9 of the 22 patients, from eight families, had a family history of TD.…”

Prevalence of thyroid hemiagenesis: ultrasound screening in normal children

“…These reports mostly concern adults. A familial incidence has been proposed [16] but this was not investigated in our study.…”

Thyroid Hemiagenesis with Multinodular Goiter: A Case Report and Review of the Literature

“…No significant compensatory growth of the existing lobe in its normal anatomic localization in many patients suggests that the main problem is a lobulation defect rather than a descent disturbance. One aspect seems to be a genetic one, because this rare disorder occurred in monozygotic twins [38], among sisters [39], or together with other thyroid malformations within one family [40,41]. Recently several genes have been found to be involved in thyroid morphogenesis and descent.…”