Wrodzona niedoczynność tarczycy — polskie rekomendacje dotyczące leczenia, monitorowania terapii i badania przesiewowego w specjalnych kategoriach noworodków z wysokim ryzykiem niedoczynności tarczycy

Abstract

Proper treatment of congenital hypothyroidism warrants normal intellectual and physical development. This paper introduces the principles of treatment of congenital hypothyroidism, the recommended levothyroxine dosage, and the aims of therapy with its justification. The principles of treatment, specialist care of the patient, and methods used to evaluate therapeutic effects are described. Based on these data, recommendations concerning treatment and its monitoring in patients with congenital hypothyroidism are formulated. The paper also highlights the importance of educating the patients and/or their caretakers as one of the basic components of an effective therapy. The interpretation of screening tests in preterm neonates is provided as well. In the current screening program in preterm children TSH was determined between days three and five of life and then after three weeks. During this time TSH values are frequently low because of the immaturity of the hypothalamic-pituitary axis. Due to the increased risk of primary and secondary hypothyroidism in preterm and low birth weight babies the determination of TSH and fT4 between days three and five of life is recommended, irrespective of the screening test. StreszczenieWłaściwe leczenie gwarantuje dziecku z wrodzoną niedoczynnością tarczycy prawidłowy rozwój umysłowy i fizyczny. W pracy przedstawiono zasady leczenia wrodzonej niedoczynności tarczycy, zalecane dawki lewotyroksyny oraz cele terapii wraz z uzasadnieniem. Opisano zasady właściwego monitorowania terapii i metody oceny skuteczności leczenia oraz zasady opieki specjalistycznej nad pacjentem. Na podstawie tych danych przygotowano rekomendacje dotyczące leczenia i monitorowania terapii u pacjentów z wrodzoną niedoczynnością tarczycy. Podkreślono także rolę edukacji pacjenta i jego opiekunów jako jednego z podstawowych elementów skutecznej terapii. W pracy przedstawiono także problem interpretacji testów przesiewowych i leczenie u dzieci przedwcześnie urodzonych. W dotychczas istniejącym programie badań przesiewowych u wcześniaków oznaczano TSH w 3.-5. dobie życia, a następnie po 3. tygodniu życia. Wartości TSH są wówczas często niskie z uwagi na niedojrzały układ podwzgórzowo-przysadkowy. W związku ze zwiększonym ryzykiem pierwotnej i wtórnej niedoczynności tarczycy u wcześniaków i dzieci z niską masą urodzeniową rekomenduje się oznaczenia TSH i fT4 w 3.

Extrathyroidal congenital defects in children with congenital hypothyroidism – observations from a single paediatric centre in Central Europe with a review of literature

“…These hormones are essential in the growth and maturity of cells and tissue in the foetal period. A lack of thyroid hormones leads to defects in the tissues of the nervous system and skeletal system, as well as other tissues [3]. This hypothesis does not appear to explain the co-occurrence of CH and defects in other organs and systems because in the first 12 weeks of life the foetus is dependent on the mother's production of thyroid hormones.…”

“…The frequency of CH depends on the studied population; however, in the last 20-30 years an increase in frequency up to 1 : 2000 newborns has been observed. The increase is caused, to a great extent, by the lowering of the thyroid-stimulating hormone (TSH) threshold value for the diagnosis CH in screening tests [1][2][3][4]. In Poland the frequency of CH is approximately 1 : 3500 newborns.…”

“…In Poland the frequency of CH is approximately 1 : 3500 newborns. This value is largely due to the implementation of measuring FT4 levels in addition to measuring TSH levels in the 3 rd -5 th day of life in small for gestational age newborns (lowered FT4 with lowered TSH, which is a result of an immature hypothalamo-pituitary axis) [1][2][3]. This is performed independently of the screening results.…”

Amiodarone-induced thyroid dysfunction in the developmental period: prenatally, in childhood, and adolescence — case reports and a review of the literature

“…However, hypothyroidism in the prenatal or early postnatal period requires special attention due to the relationship between the level of thyroid hormones and the development of the nervous system. The first two weeks of life are critical [12]. It is estimated that children whose levothyroxine supplementation was included between 12 and 30 days of age have an IQ ratio approximately 15.7 higher compared to children whose treatment was included after 30 days of age [13].…”

Investigation of risk factors for congenital hypothyroidism (CH) using a population-based case-control study as part of the 2015-2018 screening program in Kohgiluyeh and Boyer Ahmad province in southwestern Iran

“…Despite significant progress in the management and treatment of congenital hypothyroidism, this disorder continues to cause major neurodevelopmental deficits in infants. Congenital hypothyroidism (CH) originates from several factors, so eliminating them can help reduce the prevalence of the disease (19).…”