Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.
Stoupa A,Chaabane R,Guériouz M,Raynaud-Ravni C,Nitschke P,Bole-Feysot C,Mnif M,Ammar Keskes L,Hachicha M,Belguith N,Polak M,Carré A
Source :
Thyroid
2018 Mai 24
Pmid / DOI:
29790453
Abstract
BACKGROUNDPrimary congenital hypothyroidism (CH) affects about 1:3000 newborns worldwide and is mainly caused by defects in thyroid gland development (thyroid dysgenesis [TD]) or hormone synthesis. A genetic cause is identified in T, p.S292F) was found in the Tunisian patient with severe thyroid hypoplasia. The two French siblings were compound heterozygotes (c.387delC/c.2578G>A, p.N129Kfs*80/p.G860R) for TPO mutations. All three mutations have been previously described in patients with goitrous CH. In these patients, treatment was initiated immediately after diagnosis, and the effect, if any, of thyrotropin stimulation of these thyroids remains unclear.CONCLUSIONSThe first cases are reported of thyroid hypoplasia at diagnosis during the neonatal period in patients with CH and TPO mutations. These cases highlight the importance of screening for TPO mutations not only in goitrous CH, but also in normal or small-size thyroids, and they broaden the clinical spectrum of described phenotypes.KEYWORDScongenital hypothyroidism, dyshormonogenesis, thyroid dysgenesis, thyroid peroxidase, whole exome sequencing