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Submitted on July 13, 2004
Accepted on October 11, 2004
INSERM U457 (S.S.T., P.C., M.P) and Service d'Endocrinologie Pédiatrique (P.C.), Hôpital Robert Debré; INSERM E0363 (S.S.T., M.P.), Faculté de Médecine Necker- Enfants Malades; Département de Génétique/ INSERM U393 (J.A., G.M., H.E., J.M., M.V., T.A.B.) and Service d'Endocrinologie Pédiatrique (M.P.), Hôpital Necker- Enfants Malades; Paris, France
* To whom correspondence should be addressed.
Michel Polak, E-mail: michel.polak{at}nck.ap-hop-paris.fr
Thyroid dysgenesis (TD) is responsible for most cases of congenital hypothyroidism (CH), a condition that affects about one in 4000 newborns. Mutations in PAX8, TITF1 or FOXE1 may account for CH in patients with either isolated TD or TD with associated malformations involving kidney, lung, forebrain and palate. Pax8, titf1 and foxe1 are expressed in the mouse thyroid bud as soon as it differentiates on the pharyngeal floor. Since the spatio-temporal expression of these genes is unknown in human, we decided to study them at different stages of human embryonic and fetal development. PAX8 and TITF1 were first expressed in the median thyroid primordium. Interestingly, PAX8 was also expressed in the thyroglossal duct and the ultimobranchial bodies. Human FOXE1 expression was detected later than in the mouse. PAX8 was also expressed in the developing central nervous system and kidney, including the ureteric bud and the main collecting ducts. TITF1 was expressed in the ventral forebrain and lung. FOXE1 expression was detected in the oropharyngeal epithelium and thymus. In conclusion the expression patterns described here show some differences with those reported in mouse. They explain the malformations associated with TD in patients carrying PAX8, TITF1 and FOXE1 gene mutations.
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