TY - JOUR
T1 - Less known aspects of central hypothyroidism
T2 - Part 2 - Congenital etiologies
AU - Benvenga, Salvatore
AU - Klose, Marianne
AU - Vita, Roberto
AU - Feldt-Rasmussen, Ulla
PY - 2018/12
Y1 - 2018/12
N2 - Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism. Despite its rarity in the general population, it is much more common in certain disorders, in which it is frequently associated with other pituitary hormone deficiencies. The aim of this paper is to provide an updated review on the frequency of congenital CH, which is <1:50,000, and on its etiology, disregarding CH caused by other genetic defects, such as mutations of transcription factors involved in pituitary organogenesis or mutations of the genes encoding TRH or TRH receptor.
AB - Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism. Despite its rarity in the general population, it is much more common in certain disorders, in which it is frequently associated with other pituitary hormone deficiencies. The aim of this paper is to provide an updated review on the frequency of congenital CH, which is <1:50,000, and on its etiology, disregarding CH caused by other genetic defects, such as mutations of transcription factors involved in pituitary organogenesis or mutations of the genes encoding TRH or TRH receptor.
U2 - 10.1016/j.jcte.2018.09.004
DO - 10.1016/j.jcte.2018.09.004
M3 - Review
C2 - 30294553
SN - 2214-6237
VL - 14
SP - 5
EP - 11
JO - Journal of Clinical and Translational Endocrinology
JF - Journal of Clinical and Translational Endocrinology
ER -