Diagnostic Re-Evaluation and Potential Predictor Factors of Transient and Permanent Congenital Hypothyroidism in Eutopic Thyroid Gland

Tuli, Gerdi; Munarin, Jessica; Sanctis, Luisa De

doi:10.3390/jcm10235583

Cited by 4 publications

(2 citation statements)

References 31 publications

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“…Traditionally, the etiology of CH has been attributed to TD in 75%–85% of cases, while TDH accounts for 15%–25% 4 . However, the results of several studies conducted worldwide to evaluate the incidence of CH and TDH in the recent decade vary considerably 5 .…”

Section: Introductionmentioning

confidence: 99%

“…3 Traditionally, the etiology of CH has been attributed to TD in 75%-85% of cases, while TDH accounts for 15%-25%. 4 However, the results of several studies conducted worldwide to evaluate the incidence of CH and TDH in the recent decade vary considerably. 5 Some studies report an increasing trend in CH or TDH, as in India and Japan, 5,6 while others have shown no such trend, as in Finland.…”

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confidence: 99%

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Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome sequencing

Tsai,

Chang,

Chou

et al. 2024

The Kaohsiung J of Med Scie

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Thyroid dyshormonogenesis (TDH) is responsible for 15%–25% of congenital hypothyroidism (CH) cases. Pathogenetic variants of this common inherited endocrine disorders vary geographically. Unraveling the genetic underpinnings of TDH is essential for genetic counseling and precise therapeutic strategies. This study aims to identify genetic variants associated with TDH in Southern Taiwan using whole exome sequencing (WES). We included CH patients diagnosed through newborn screening at a tertiary medical center from 2011 to 2022. Permanent TDH was determined based on imaging evidence of bilateral thyroid structure and the requirement for continuous medication beyond 3 years of age. Genomic DNA extracted from blood was used for exome library construction, and pathogenic variants were detected using an in‐house algorithm. Of the 876 CH patients reviewed, 121 were classified as permanent, with 47 (40%) confirmed as TDH. WES was conducted for 45 patients, and causative variants were identified in 32 patients (71.1%), including DUOX2 (15 cases), TG (8 cases), TSHR (7 cases), TPO (5 cases), and DUOXA2 (1 case). Recurrent variants included DUOX2 c.3329G>A, TSHR c.1349G>A, TG c.1348delT, and TPO c.2268dupT. We identified four novel variants based on genotype, including TSHR c.1135C>T, TSHR c.1349G>C, TG c.2461delA, and TG c.2459T>A. This study underscores the efficacy of WES in providing definitive molecular diagnoses for TDH. Molecular diagnoses are instrumental in genetic counseling, formulating treatment, and developing management strategies. Future research integrating larger population cohorts is vital to further elucidate the genetic landscape of TDH.

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Section: Introductionmentioning

confidence: 99%

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confidence: 99%

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome sequencing

Tsai,

Chang,

Chou

et al. 2024

The Kaohsiung J of Med Scie

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Clinical Course of Congenital Hypothyroidism With Gland In Situ and Necessity of L-Thyroxine Therapy After Re-evaluation

Pignata,

Bagattini,

Di Cosmo

et al. 2024

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Clinical course and need for long-term L-thyroxine (LT4) therapy of congenital hypothyroidism (CH) with gland in situ (GIS) remain unclear. Objective To describe the clinical history of CH with GIS and evaluate the proportion of patients who can suspend therapy during follow-up. Design and setting Retrospective evaluation of patients followed at referral regional center for CH of Pisa. Patients 77 patients with confirmed primary CH and GIS after positive neonatal screening were included. All children started LT4 at CH confirm. Interventions At 3 years of age, 55 children underwent a clinical re-evaluation after withdrawal of therapy with hormonal examinations, imaging of the thyroid gland with ultrasonography and 123-iodine with perchlorate discharge test. Subsequent periodic controls of thyroid function were executed and, when possible, a new attempt to stop LT4 was performed. Adequate follow-up data (at least 6 months after treatment suspension trial) were available for 49 patients. Results Among the 55 patients who were reassessed, 18 (32.7%) were euthyroid. Considering subsequent follow-up, 49% of patients were no longer treated and 51% were taking therapy. No differences in neonatal parameters were observed between the two groups; LT4 dose before the last trial off medication was higher in permanent CH (p 0.016). Conclusion Monitoring of thyroid function in children with CH and GIS is necessary to evaluate the need for substitution and avoid overtreatment. Even if therapy can be suspended, patients need to be monitored because apparently normal thyroid function may decline several months after withdrawal of LT4.

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Incidence tendency, etiological classification and outcome of congenital hypothyroidism in Guangzhou, China: an 11-year retrospective population-based study

Ming

Jiang

Mei

et al. 2022

Journal of Pediatric Endocrinology and Metabolism

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Objectives An increased incidence of congenital hypothyroidism (CH) has been described worldwide over the years. In this study, we aimed to investigate the epidemiologic characteristics of CH, the iodine status in Guangzhou, China and to investigate which factors might influence the CH incidence during the period 2010–2020. Methods We retrospectively reviewed all cases of CH detected by newborn screening during the period 2010–2020. CH was classified as either suspected thyroid dyshormonogenesis (SDH) or thyroid dysgenesis (TD) based on thyroid ultrasound at first diagnosis. Patients were re-evaluated after 4 weeks of L-thyroxine withdrawal at age of 2–3 years to confirm the diagnosis of permanent CH (PCH) or transient CH (TCH). Results From 2010 to 2020, 1,655 patients with CH were confirmed from 2,400,383 newborns (1:1,450). The CH incidence increased from 1:2,584 in period [2010–2014] to 1:1,086 in period [2015–2020]. Among the 1,337 patients with thyroid ultrasound, 84.29% were SDH whereas 15.71% had TD. Further analysis revealed that more SDH (78.32%) were TCH whereas more TD (87.12%) turned to be PCH. The proportion of blood spot thyrotropin values >5 mIU/L ranged from 8.03 to 20.46%, indicating iodine deficiency. The prevalence of preterm infants increased from 5.50% in period [2010–2014] to 7.06% in period [2015–2020] (p<0.001). Conclusions In the past decade, the CH incidence has increased progressively. SDH was the majority of CH, most of which were TCH, while most patients with TD were PCH. The increased incidence might be mainly due to iodine deficiency and increased rates of preterm infants in our study.

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Diagnostic Re-Evaluation and Potential Predictor Factors of Transient and Permanent Congenital Hypothyroidism in Eutopic Thyroid Gland

Cited by 4 publications

References 31 publications

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome sequencing

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome sequencing

Clinical Course of Congenital Hypothyroidism With Gland In Situ and Necessity of L-Thyroxine Therapy After Re-evaluation

Incidence tendency, etiological classification and outcome of congenital hypothyroidism in Guangzhou, China: an 11-year retrospective population-based study

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