title: Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene.
abstract: Neonatal hyperthyroidism is a rare disorder and occurs in two forms. An autoimmune form is associated with maternal Graves' disease, resulting from transplacental passage of maternal thyroid-stimulating antibodies and a nonautoimmune form is caused by gain of function mutations in the thyrotropin receptor (TSHR) gene. Thyrotoxicosis caused by germline mutations in the TSHR gene may lead to a variety of clinical consequences. To date, 55 activating mutations of the TSHR gene have been documented. Fourteen cases with sporadic activating TSHR germline mutations have been described. Here we report a male infant with nonautoimmune hyperthyroidism due to an activating germline TSHR mutation (A623V), whose clinical picture started in the newborn period with severe hyperthyroidism. His parents did not have the same mutation. This mutation had been previously detected as a somatic mutation in patients with toxic adenomas. This is the first report of a sporadic case of nonautoimmune congenital hyperthyroidism associated with A623V mutation.
authors.affiliation: Dr. Sami Ulus Women Health, Children's Education and Research Hospital, Clinics of Pediatric Endocrinology, Ankara, Turkey. zehraaycan67@hotmail.com
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
authors.forename: Sebahat Yılmaz
authors.initials: SY
authors.lastname: Ağladıoğlu
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.forename: Semra
authors.initials: S
authors.lastname: Cetinkaya
authors.forename: Veysel Nijat
authors.initials: VN
authors.lastname: Baş
authors.forename: Havva Nur Peltek
authors.initials: HN
authors.lastname: Kendirici
mesh_terms: D018095:Germ-Line Mutation; D006042:Goiter / Q000473:pathology; D006801:Humans; D006980:Hyperthyroidism / Q000151:congenital / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D007223:Infant; D008297:Male; D011441:Propylthiouracil / Q000627:therapeutic use; D011989:Receptors, Thyrotropin / Q000235:genetics*; D013961:Thyroid Gland / Q000473:pathology
chemical_list: D011989:Receptors, Thyrotropin; D011441:Propylthiouracil