title: Congenital hypothyroidism with gland in situ: diagnostic re-evaluation.
abstract: In the past, most congenital hypothyroidism (CH) children with thyroid gland in situ were considered to be affected by hormonogenesis defect. Nowadays, the improved sensitivity of neonatal screening, novel insights into the pathogenic mechanisms and the advances of genetic analyses have reopened the discussion about the etiology of CH with thyroid in situ. We report the etiological re-evaluation of 31 children with thyroid in situ, who had been identified by the CH screening program. The purposes of this re-evaluation were: a) to investigate the definitive diagnosis and pathogenetic mechanism of CH with thyroid in situ in eligible children suspected of dyshormonogenetic defect and b) to verify the adequacy of the treatment schedules. Thirty out of 31 children were affected with permanent hypothyroidism and only one child was euthyroid at re-evaluation (transient CH). Thyroid hormone organification defects were present in less than half of the CH patients with thyroid in situ (13/30); a higher prevalence of partial defects of iodine organification than severe or complete forms was found. An inactivating TSH-receptor gene mutation was found in only one patient without iodine organification defect. Some questions remain unanswered concerning the adequacy of the schedules of treatment, particularly about the proper treatment of mild and borderline forms of CH.
authors.affiliation: Department of Pediatrics, Vita-Salute San Raffaele University, Milan, Italy. weber.giovanna@hsr.it
authors.forename: G
authors.initials: G
authors.lastname: Weber
authors.forename: M C
authors.initials: MC
authors.lastname: Vigone
authors.forename: A
authors.initials: A
authors.lastname: Passoni
authors.forename: M
authors.initials: M
authors.lastname: Odoni
authors.forename: P L
authors.initials: PL
authors.lastname: Paesano
authors.forename: F
authors.initials: F
authors.lastname: Dosio
authors.forename: M C
authors.initials: MC
authors.lastname: Proverbio
authors.forename: C
authors.initials: C
authors.lastname: Corbetta
authors.forename: L
authors.initials: L
authors.lastname: Persani
authors.forename: G
authors.initials: G
authors.lastname: Chiumello
mesh_terms: D003409:Congenital Hypothyroidism; D005260:Female; D006801:Humans; D006965:Hyperplasia; D007037:Hypothyroidism / Q000175:diagnosis* / Q000209:etiology; D007231:Infant, Newborn; D007455:Iodine / Q000378:metabolism; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D011877:Radionuclide Imaging; D011989:Receptors, Thyrotropin / Q000235:genetics; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D013954:Thyroglobulin / Q000097:blood; D013961:Thyroid Gland / Q000000981:diagnostic imaging / Q000473:pathology; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood / Q000627:therapeutic use; D014284:Triiodothyronine / Q000097:blood; D014463:Ultrasonography
chemical_list: D011989:Receptors, Thyrotropin; D014284:Triiodothyronine; D013972:Thyrotropin; D013954:Thyroglobulin; D007455:Iodine; D013974:Thyroxine