Prediction of Transient or Permanent Congenital Hypothyroidism from Initial Thyroid Stimulating Hormone Levels

Scavone, Maria; Carboni, E.; Stefanelli, Ettore; Romano, Gaetano; Vero, Anna; Giancotti, Luigino Antonio; Miniero, R; Talarico, Valentina

doi:10.1007/s13312-018-1442-x

Cited by 7 publications

(13 citation statements)

References 11 publications

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“…When calculating the exact L-T4 dosage per kg body weight, the available galenic preparations and their strengths should be considered, the smallest incremental change in L-T4 concentration that is possible, is 5 µg/drop or 2 µg/0.1 ml liquid. Our results add to those of other groups who examined infants with CH and a eutopic thyroid gland (2,7,8,16). Our findings suggest the predicting cut-off for TCH at 2 years of age is the L-T4 dosage of 2.0µg/kg/d and accordingly 25µg/d, whereas other study groups ranged from 0.94µg/kg/d (8) to 2.8µg/kg/d (16).…”

Section: Discussionsupporting

confidence: 72%

“…Thus, these cases will not to be reported to "HypoDok", if temporary treatment is expected. L-T4 treatment dosages at various time points during the first three years have been reported to discriminate TCH from PCH (2,7,8,9,10,16). Based on these parameters, the decision to withdraw L-T4 treatment in infancy in order to re-evaluate endogenous thyroid function may be made.…”

Section: Discussionmentioning

confidence: 99%

“…L-T4 treatment is then paused for 4 to 6 weeks in order to assess endogenous thyroid function. Earlier withdrawal is discussed when transient elevations of neonatal TSH concentrations are likely and there is impending overtreatment (7,8,9,10). Paediatric endocrinologists tend to conduct therapy in the first 2 years of life in order to avoid defects in the myelinisation of the central nervous system and to assure normal neurodevelopmental outcomes.…”

Section: Introductionmentioning

confidence: 99%

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Predictors of Transient Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (AQUAPE "HypoDok")

Matejek

Haberland

Rohrer

et al. 2021

Preprint

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Neonatal screening for congenital primary hypothyroidism (CH) may not distinguish between transient (TCH) and permanent dysfunction (PCH), causing potential overtreatment and concerns in affected families. To specify the indication for interruption of therapy we analysed the German registry "HypoDok" for infants with CH, which oversees 1,625 patients from 49 participating centres in Germany and Austria from 1997 until today. 357 Patients with a thyroid gland in loco typico were identified and retrospectively grouped according to cessation (TCH n=24) or continuation (PCH n=333) of L-Thyroxine (L-T4) treatment at 2 years of age. The receiver operating characteristic (ROC) analysis was performed to identify cut-offs predicting TCH by screening TSH concentrations and L-T4 dosages. Gestational ages, birth weights and prevalence of associated malformations were comparable in both groups. The cut-off screening TSH concentration was 73 mU/L. The cut-off daily L-T4 dosage at 1 year was 3.1 µg/kg (90% sensitivity, 63% specificity; 36 µg/d) and at 2 years of age 2.95 µg/kg (91% sensitivity, 59% specificity; 40 µg/d). At 2 years of age, specificity (71%) increased when these both parameters were considered together. Conclusion: The decision to continue or cease L-T4 treatment at 2 years of age in CH patients diagnosed in neonatal screening may be based on their screening TSH concentrations and individual L-T4 dosages at 1 and 2 years of age. Thus, TCH and PCH may be distinguished; overtreatment avoided, and affected families reassured.

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Section: Discussionsupporting

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Predictors of Transient Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (AQUAPE "HypoDok")

Matejek

Haberland

Rohrer

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…L-T 4 treatment dosages at various time points during the first 3 years have been reported to discriminate TCH from PCH [2,[7][8][9][10]16]. Based on these parameters, the decision to withdraw L-T 4 treatment in infancy in order to re-evaluate endogenous thyroid function may be made.…”

Section: Discussionmentioning

confidence: 99%

“…L-T 4 treatment is then paused for 4 to 6 weeks in order to assess endogenous thyroid function. Earlier withdrawal is discussed when transient elevations of neonatal TSH concentrations are likely and there is impending overtreatment [7][8][9][10]. Paediatric endocrinologists tend to conduct therapy in the first 2 years of life in order to avoid defects in the myelinisation of the central nervous system and to assure normal neurodevelopmental outcomes.…”

Section: Introductionmentioning

confidence: 99%

Predictors of transient congenital primary hypothyroidism: data from the German registry for congenital hypothyroidism (AQUAPE “HypoDok”)

Matejek

Haberland

Rohrer³

et al. 2021

Eur J Pediatr

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Neonatal screening for congenital primary hypothyroidism (CH) may not distinguish between transient (TCH) and permanent dysfunction (PCH), causing potential overtreatment and concerns in affected families. To specify the indication for interruption of therapy, we analysed the German registry “HypoDok” for infants with CH, which oversees 1625 patients from 49 participating centres in Germany and Austria from 1997 until today. A total of 357 patients with a thyroid gland in loco typico were identified and retrospectively grouped according to cessation (TCH, n = 24) or continuation (PCH, n = 333) of l-thyroxine (l-T4) treatment at 2 years of age. The receiver operating characteristic (ROC) analysis was performed to identify cutoffs predicting TCH by screening TSH concentrations and l-T4 dosages. Gestational ages, birth weights and prevalence of associated malformations were comparable in both groups. The cutoff screening TSH concentration was 73 mU/L. The cutoff daily l-T4 dosage at 1 year was 3.1 μg/kg (90% sensitivity, 63% specificity; 36 μg/day) and at 2 years of age 2.95 μg/kg (91% sensitivity, 59% specificity; 40 μg/day). At 2 years of age, specificity (71%) increased when both of these parameters were considered together.Conclusion: The decision to continue or cease l-T4 treatment at 2 years of age in CH patients diagnosed in neonatal screening may be based on their screening TSH concentrations and individual l-T4 dosages at 1 and 2 years of age. Thus, TCH and PCH may be distinguished; overtreatment avoided; and affected families reassured. What is Known:• The course of congenital primary hypothyroidism may be transient, causing potential overtreatment.• The dose ofl-thyroxine at 1 or 2 years of age may predict a transient course of primary congenital hypothyroidism. What is New:• TSH screening concentration andl-thyroxine dosages at 1 and 2 years of age represent reliable predictors for transient congenital primary hypothyroidism with higher sensitivity and specificity when considered together in order to select eligible patients who qualify for treatment withdrawal.

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Correspondence

et al. 2019

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Prediction of Transient or Permanent Congenital Hypothyroidism from Initial Thyroid Stimulating Hormone Levels

Cited by 7 publications

References 11 publications

Predictors of Transient Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (AQUAPE "HypoDok")

Predictors of Transient Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (AQUAPE "HypoDok")

Predictors of transient congenital primary hypothyroidism: data from the German registry for congenital hypothyroidism (AQUAPE “HypoDok”)

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