Endocrine Abstracts

Introduction: Thyroid dyshormonogenesis (TD) accounts for 15–20% of congenital hypothyroidism (CH). Levothyroxine is the treatment of choice with the immediate goal to raise the serum T4 as rapidly as possible. Surgical treatment is indicated in case of compressive or suspected goiter.

Patients and methods: Seventeen patients with thyroid dyshormonogenesis belonging to 4 Tunisian families were included in a descriptive prospective study. They were followed up for a period of 12 years.

Results: We recruited 11 males and 6 females. The average age of our patients at diagnosis was 6.97 years (range: 1 month–30 years). Diagnosis of thyroid dyshormonogenesis was after developing clinical signs of hypothyroidism for 11 patients (64%), on occasion of family screening for 4 patients (32%) and after exploration of goiter for 2 patients (14%). 6 patients had goiter at diagnosis.

Treatment with levothyroxine has been decided for all our patients after confirmation of hypothyroidism. The average dose of L-thyroxine, evaluated in 13 patients, was 134.37 ug/day with extremes of 50 and 200 ug. Adherence was evaluated good for 6 patients (35%) and poor for 9 patients (52%). 2 patients were not evaluated. Normal thyroid function was obtained for 86% of patients.

Under treatment, 7 patients have had developped multinodular goiter. An increase of goiter volume was observed for 4 patients among 6 patients who initially presented goiter.

Total thyroidectomy was decided secondarily for 2 patients after 27 and 34 years of diagnosing thyroid dyshormonogenesis. This thyroidectomy has been indicated for a compressive goiter for one patient and for a suspected nodules for the second. The histopathologic findings were in favor of benignity.

Conclusion: The absence of neonatal screening of congenital hypothyroidism in Tunisia is responsible of diagnostic and therapeutic important delay.