Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland

Messina, Maria Francesca; Aversa, Tommaso; Salzano, Giuseppina; Zirilli, Giuseppina; Sferlazzas, Concetta; Luca, Filippo De; Lombardo, Fortunato

doi:10.1159/000435811

Cited by 50 publications

(61 citation statements)

References 16 publications

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“…This finding was consistent with the data of latest reports (11,47,48). Imaging studies revealed ectopic gland or athyreosis in only 25% of the cases with CH, and thereby let us to make a definitive diagnosis on admission in a small group.…”

Section: Discussionsupporting

confidence: 94%

“…This experience is in agreement with the data of a recent study from Turkey, which has shown that L-T4 dose is the sole criterion that can be used to distinguish permanent and transient CH (49). Messina et al (48) proposed that L-T4 requirements <1.7 µg/kg/day at 12 months or <1.45 µg/kg/day at 24 months were highly suggestive of transient CH. On the other hand, Cho et al (47) suggested that infants with CH requiring L-T4 doses <3.25 µg/kg/day at 12 and 24 months were likely to have transient CH.…”

Section: Discussionmentioning

confidence: 99%

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Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course

Kara

Gunindi²,

Yılmaz³

et al. 2016

Jcrpe

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Objective: Prevalence of congenital hypothyroidism (CH) in Turkey at birth was reported to be as high as 1:650 in 2008-2010. Incidence rates of permanent and transient CH separately are unknown due to lack of follow-up data. We aimed to evaluate the impact of transient hypothyroidism on increasing incidence of CH and to determine the natural course and the clinical, biochemical, and imaging characteristics of transient CH.Methods: Baseline and follow-up data of the infants with CH detected at screening in six provinces in the Black Sea Region were analyzed retrospectively during a time period covering the years 2008-2010.Results: Among 138 cases (48% female), 16 (12%) showed transient hyperthyrotropinemia which resolved without intervention. Of the treated 122 cases, 63 (52%) had transient CH. While its frequency was 35% in 2008, it increased to 56% in 2009-2010, following a lowering of the thyroid stimulating hormone cutoff value. The frequency was higher in inland provinces than in coast (67% vs. 43%; p=0.01).Clinical characteristics of permanent and transient cases were similar except female-to-male sex ratios (1.5:1 vs. 0.6:1; p=0.02). L-thyroxine was discontinued in 70% of transient cases before 3 years of age at a median age of 19 (2-36) months. The only indication for early discontinuation of treatment was a low L-thyroxine dose, which was 1.25±0.27 µg/kg/day at withdrawal time.Conclusion: Our regional follow-up data showed that more than half of newborns with primary CH had transient thyroid dysfunction. In the majority of cases, discrimination between transient and permanent CH can be made before age 3 years, as indicated by cessation of L-thyroxine treatment.

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Section: Discussionsupporting

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course

Kara

Gunindi²,

Yılmaz³

et al. 2016

Jcrpe

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“…In a report by Messina et al from Italy of children with CH associated with a eutopic gland by ultrasonography, those children on a lower l-thyroxine dose at 12 and 24 months (<1.7 ug/kg/d and <1.45 ug/kg/d, respectively) were more likely to have transient hypothyroidism discovered at age 3 years, while children with permanent CH had higher l-thyroxine dose requirements at 12 and 24 months (>4.9 ug/kg/d and >4.27 ug/kg/d, respectively) [12]. …”

Section: Discussionmentioning

confidence: 99%

Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA

et al. 2016

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Background/Aims: The newborn screening (NBS) program in Oregon, USA, collects two routine specimens in all infants. The aim of our study was to determine the incidence of permanent versus transient congenital hypothyroidism (CH) in infants detected on the first versus second screening test. Methods: Thyroid function was determined in infants after the age of 3 years diagnosed with CH and born in Oregon between 2005 and 2011. Permanent hypothyroidism was defined as a TSH rise >10 mIU/ml after the first year on treatment or a TSH rise >6 mIU/ml with temporary discontinuation of l-thyroxine after the age of 3 years. Results: Of the cases detected on the first test, 72 of 87 (83%) were permanent and 15 of 87 (17%) were transient, while of the cases detected on the second test, 5 of 22 (23%) were permanent and 17 of 22 (77%) were transient (OR 16.3, p < 0.001). There was a female preponderance detected on the first screen versus a male preponderance on the second screen. Blood spot and serum thyroid function tests at diagnosis, before treatment, were not meaningfully different between the two groups. The mean l-thyroxine dose at the age of 3 years was greater on the first screen: 61.2 versus 36.6 μg/day. Conclusions: Infants detected on the second NBS specimen have a higher incidence of transient CH.

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“…Neonates with a persistent deficiency of the thyroid hormone that requires life-long treatment were classified as babies with permanent CH. Transient CH was diagnosed whenever thyroid hormone levels returned to normal, after tapering down and discontinuation of the thyroxine therapy [15,16]. Newborns detected with CH underwent thyroid ultrasonography followed by scintigraphy.…”

Section: Methodsmentioning

confidence: 99%

Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

Anastasovska

Kočova²

2017

IJNS

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Lower cutoff levels in screening programs have led to an increase in the proportion of detected cases of transient hypothyroidism, leading to an increase in the overall prevalence of primary congenital hypothyroidism (CH) in several countries. We have performed a retrospective evaluation on the data from 251,008 (96.72%) neonates screened for thyroid-stimulating hormone (TSH) level in dried blood spot specimens taken 48 h after birth, between 2002 and 2015, using the DELFIA method. A TSH value of 15 mIU/L whole blood was used as the cutoff point until 2010 and 10 mIU/L thereafter. Primary CH was detected in 127 newborns (1/1976) of which 81.1% had permanent and 18.9% had transient CH. The prevalence of primary CH increased from 1/2489 before 2010 to 1/1585 thereafter (p = 0.131). However, the prevalence of permanent CH increased only slightly (p = 0.922), while the transient CH prevalence showed an 8-fold increase after lowering the TSH cutoff level (p < 0.001). In cases of permanent CH, we observed a lower prevalence of thyroid dysgenesis (82.7% vs. 66.7%) and a higher prevalence of a normal in situ thyroid gland (17.3% vs. 33.3%), for the period with a lower TSH cutoff value. Our findings support the impact of a lower TSH cutoff on the increasing prevalence of congenital hypothyroidism.

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Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland

Cited by 50 publications

References 16 publications

Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course

Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course

Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA

Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

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