title: [Congenital hypothyroidism secondary to thyroid hypoplasia detected in adulthood].
abstract: The anatomical location of the thyroid gland and its hormone byosinthesis are regulated by the expression of certain genes, whose disruption leads to the so-called thyroid dysgenesis: agenesis, ectopia and hypoplasia, and to dyshormonogenesis. We present the case of a patient with mental retardation and hypothyroidism whose diagnosis was made in adulthood. Biochemical determinations confirmed the diagnosis without evidence of thyroid autoimmunity. This patient represents the extended evolution of a thyroid hypofunction, which lasted in an unsuspected way for 53 years, with important consequences of this deficiency at diagnosis. Exogenous therapy achieved great improvement in clinical symptoms, but did not reverse the neurological damage attributable to the lack of thyroid hormone necessary for fetal development. The necropsy revealed little thyroid tissue in the neck corresponding to eutopic thyroid hypoplasia. The discovery of a remaining thyroid of less than 1 cm justified the patient survival up to old age.
authors.affiliation: Departamento de Clínica Médica, Instituto de Investigaciones Médicas Alfredo Lanari, Buenos Aires, Argentina.
authors.forename: Paula
authors.initials: P
authors.lastname: Monti
authors.forename: Silvana
authors.initials: S
authors.lastname: Roveto
authors.forename: Soledad
authors.initials: S
authors.lastname: Rajuan
authors.forename: Carla
authors.initials: C
authors.lastname: Gazzi
authors.forename: Daniel
authors.initials: D
authors.lastname: Rimoldi
mesh_terms: D000368:Aged; D003409:Congenital Hypothyroidism / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D057210:Delayed Diagnosis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D050033:Thyroid Dysgenesis / Q000150:complications* / Q000188:drug therapy / Q000473:pathology; D013974:Thyroxine / Q000627:therapeutic use
chemical_list: D013974:Thyroxine
keywords: congenital hypothyroidism; thyroid dysgenesis; thyroid hypoplasia