Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience
Worldwide neonatal screening for congenital hypothyroidism (CH) is a gold standard of active surveillance in newborns. Prompt diagnosis, subsequent timely treatment implementation, and proper dosage of levothyroxine (L-T4) are crucial for normal growth and development, especially of the central nerv...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-06-01
|
| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2022.895507/full |
| _version_ | 1811239001081774080 |
|---|---|
| author | Elżbieta Lipska Agnieszka Lecka-Ambroziak Agnieszka Lecka-Ambroziak Daniel Witkowski Katarzyna Szamotulska Ewa Mierzejewska Mariusz Ołtarzewski |
| author_facet | Elżbieta Lipska Agnieszka Lecka-Ambroziak Agnieszka Lecka-Ambroziak Daniel Witkowski Katarzyna Szamotulska Ewa Mierzejewska Mariusz Ołtarzewski |
| author_sort | Elżbieta Lipska |
| collection | DOAJ |
| description | Worldwide neonatal screening for congenital hypothyroidism (CH) is a gold standard of active surveillance in newborns. Prompt diagnosis, subsequent timely treatment implementation, and proper dosage of levothyroxine (L-T4) are crucial for normal growth and development, especially of the central nervous system. However, overtreatment may have a potential negative impact on further neurodevelopment. We retrospectively analysed data of 99 newborns with CH diagnosis, referred to the Endocrinology Outpatient Clinic of the Institute of Mother and Child in Warsaw, Poland from the CH screening program from 2017 to 2021. We evaluated the diagnostic process and treatment up to the age of 3 years. We compared groups of children from the first and the second screening groups (FSG, SSG) in the neonatal screening with an evaluation of ultrasound examination (thyroid dysgenesis vs. gland in situ, GIS). The overtreatment and undertreatment risks were assessed and an analysis of the new TSH thresholds was performed. Treatment was implemented at a median of 9 days of life (3 – 27); 8 days (3 – 17) in FSG and 19 (6 – 27) in SSG. The dose of L-T4 differed between FSG and SSG at all three analysed time points (start of the therapy, 12 months, and 3 years) with significantly higher doses in FSG. The same was observed for the patients with thyroid dysgenesis vs. GIS. Screening TSH level was ≥ 28mIU/l in 91.7% of patients with thyroid dysgenesis in comparison to 74.0% of patients with GIS (p= 0.038). The optimally treated group (fT4 in the upper half of the reference range, according to the guidelines) was up to 58.0% of the children during the follow-up. The risk for overtreatment was present in 1/5 of the study group after 12 months and 1/4 after 3 years of L-T4 therapy. Analysis of new TSH thresholds showed an increased prevalence of mild hypothyroidism, GIS, and either euthyroid state or overtreatment while treating with lower L-T4 doses in comparison to the rest of the cohort. The study confirmed the general efficacy of the CH diagnostic pathway and the timely implemented L-T4 therapy. The suspected overtreatment after the first 12 months of L-T4 therapy requires consideration of the earlier diagnosis re-evaluation. |
| first_indexed | 2024-04-12T12:52:10Z |
| format | Article |
| id | doaj.art-fbc3a2d2b4b14ffc93be55aeeaf96c48 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-04-12T12:52:10Z |
| publishDate | 2022-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-fbc3a2d2b4b14ffc93be55aeeaf96c482022-12-22T03:32:27ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-06-011310.3389/fendo.2022.895507895507Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre ExperienceElżbieta Lipska0Agnieszka Lecka-Ambroziak1Agnieszka Lecka-Ambroziak2Daniel Witkowski3Katarzyna Szamotulska4Ewa Mierzejewska5Mariusz Ołtarzewski6Endocrinology Outpatient Clinic, Institute of Mother and Child, Warsaw, PolandEndocrinology Outpatient Clinic, Institute of Mother and Child, Warsaw, PolandDepartment of Endocrinology and Diabetology, Children’s Memorial Health Institute, Warsaw, PolandEndocrinology Outpatient Clinic, Institute of Mother and Child, Warsaw, PolandDepartment of Epidemiology and Biostatistics, Institute of Mother and Child, Warsaw, PolandDepartment of Epidemiology and Biostatistics, Institute of Mother and Child, Warsaw, PolandDepartment of Screening and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, PolandWorldwide neonatal screening for congenital hypothyroidism (CH) is a gold standard of active surveillance in newborns. Prompt diagnosis, subsequent timely treatment implementation, and proper dosage of levothyroxine (L-T4) are crucial for normal growth and development, especially of the central nervous system. However, overtreatment may have a potential negative impact on further neurodevelopment. We retrospectively analysed data of 99 newborns with CH diagnosis, referred to the Endocrinology Outpatient Clinic of the Institute of Mother and Child in Warsaw, Poland from the CH screening program from 2017 to 2021. We evaluated the diagnostic process and treatment up to the age of 3 years. We compared groups of children from the first and the second screening groups (FSG, SSG) in the neonatal screening with an evaluation of ultrasound examination (thyroid dysgenesis vs. gland in situ, GIS). The overtreatment and undertreatment risks were assessed and an analysis of the new TSH thresholds was performed. Treatment was implemented at a median of 9 days of life (3 – 27); 8 days (3 – 17) in FSG and 19 (6 – 27) in SSG. The dose of L-T4 differed between FSG and SSG at all three analysed time points (start of the therapy, 12 months, and 3 years) with significantly higher doses in FSG. The same was observed for the patients with thyroid dysgenesis vs. GIS. Screening TSH level was ≥ 28mIU/l in 91.7% of patients with thyroid dysgenesis in comparison to 74.0% of patients with GIS (p= 0.038). The optimally treated group (fT4 in the upper half of the reference range, according to the guidelines) was up to 58.0% of the children during the follow-up. The risk for overtreatment was present in 1/5 of the study group after 12 months and 1/4 after 3 years of L-T4 therapy. Analysis of new TSH thresholds showed an increased prevalence of mild hypothyroidism, GIS, and either euthyroid state or overtreatment while treating with lower L-T4 doses in comparison to the rest of the cohort. The study confirmed the general efficacy of the CH diagnostic pathway and the timely implemented L-T4 therapy. The suspected overtreatment after the first 12 months of L-T4 therapy requires consideration of the earlier diagnosis re-evaluation.https://www.frontiersin.org/articles/10.3389/fendo.2022.895507/fullcongenital hypothyroidismpermanent CHtransient CHneurodevelopmentneonatal screeningTSH threshold |
| spellingShingle | Elżbieta Lipska Agnieszka Lecka-Ambroziak Agnieszka Lecka-Ambroziak Daniel Witkowski Katarzyna Szamotulska Ewa Mierzejewska Mariusz Ołtarzewski Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience Frontiers in Endocrinology congenital hypothyroidism permanent CH transient CH neurodevelopment neonatal screening TSH threshold |
| title | Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience |
| title_full | Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience |
| title_fullStr | Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience |
| title_full_unstemmed | Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience |
| title_short | Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience |
| title_sort | primary congenital hypothyroidism in children below 3 years old etiology and treatment with overtreatment and undertreatment risks a 5 year single centre experience |
| topic | congenital hypothyroidism permanent CH transient CH neurodevelopment neonatal screening TSH threshold |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2022.895507/full |
| work_keys_str_mv | AT elzbietalipska primarycongenitalhypothyroidisminchildrenbelow3yearsoldetiologyandtreatmentwithovertreatmentandundertreatmentrisksa5yearsinglecentreexperience AT agnieszkaleckaambroziak primarycongenitalhypothyroidisminchildrenbelow3yearsoldetiologyandtreatmentwithovertreatmentandundertreatmentrisksa5yearsinglecentreexperience AT agnieszkaleckaambroziak primarycongenitalhypothyroidisminchildrenbelow3yearsoldetiologyandtreatmentwithovertreatmentandundertreatmentrisksa5yearsinglecentreexperience AT danielwitkowski primarycongenitalhypothyroidisminchildrenbelow3yearsoldetiologyandtreatmentwithovertreatmentandundertreatmentrisksa5yearsinglecentreexperience AT katarzynaszamotulska primarycongenitalhypothyroidisminchildrenbelow3yearsoldetiologyandtreatmentwithovertreatmentandundertreatmentrisksa5yearsinglecentreexperience AT ewamierzejewska primarycongenitalhypothyroidisminchildrenbelow3yearsoldetiologyandtreatmentwithovertreatmentandundertreatmentrisksa5yearsinglecentreexperience AT mariuszołtarzewski primarycongenitalhypothyroidisminchildrenbelow3yearsoldetiologyandtreatmentwithovertreatmentandundertreatmentrisksa5yearsinglecentreexperience |