CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Neonatal screening program for central congenital hypothyroidism.
Autor/es:
D BRASLAVSKY ; L PRIETO ; A KESELMAN ; L GRUÑEIRO-PAPENDIECK ; ; R. ENACAN ; V MÉNDEZ ; A SAVEANU ; R REYNAUD ; T BRUE ; I. BERGADÁ ; A.CHIESA,
Lugar:
Barcelona
Reunión:
Congreso; 54 Reunion Anual de la Sociedad Europea de Endocrinologia Pediatrica (ESPE; 2015
Institución organizadora:
Sociedad Europea e endocriologia pediatrica ESPE
Resumen:
Background: Congenital hypothyroidism (CH) comprises aheterogeneous group of disorders that includes diseases of thehypothalamo-hypophyseal system. The latter are missed on TSHbased screening programs leading to increased morbidity andmortality. Additional T4 determinations, allows an early detectionof CH of central origin (CH-C). Objective and hypotheses: Toreport the findings of a neonatal screening program based ondetermination of TSH and T4 for early detection of CH-C.Method: Between June 2014 to March 2015, 29 100 termnewborns aged 2?7 days, were included. Screening strategyincluded TSH (IFMA Delfia), cutoff 10 mU/l and T4 (FIADelfia), cutoff 4.5 mg/dl serum, (K2.3 SDS) in filter paper bloodsamples. Infants suspicious of CH-C were referred to a paediatricendocrinologist. They underwent a thorough clinical assessmentand determination of serum TSH, T4, fT4, T3, thyroglobulin,antithyroid-antibodies, cortisol, GH, prolactin, LH, FSH, testosterone(boys), glycaemia and electrolytes. Serum TBG wasperformed in patients likely to have hypoTBGemia. Brain imagingwas performed. Results: Nineteen patients with low T4 and TSH!10 mU/l were recalled (mean age 3.1 days). Of these, ten infantshad transient hypothyroxinemia (nine non-thyroidal illnesses; onehealthy). Five boys had hypoTBGemia (mean T4 2.6 mg/dL; TBG!3.5 mg/dl). Three had permanent CH-C (mean T4 3.9 mg/dl) dueto a hypothalamo-hypophyseal disorder (1:9700). These patientsremained hospitalized due to morbid conditions (one hypernatremia;two hypoglycaemias). All of them had multiple pituitaryhormone deficiency. MRI showed midline defects. One additionalpatient with poor weight progression and cholestasis normalizedT4 but remained with isolated ACTH deficiency. Hormonalreplacement was instituted at a mean age of 12.2 days.Conclusion: Inclusion of T4 determination allowed us to identifyCH-C as a prevalent condition, to detect T4 transport defects andtransient hypotiroxinemia due to systemic diseases. In CH-Cinfants additional detection of other life-threatening hormonedeficits, facilitated a timely treatment preventing mayor morbidity.Funding: This work was supported by the Fundacio´n deEndocrinologı´a Infantil a non profit organization.