Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism

Djemli, Anissa; Fillion, Marc; Belgoudi, Jaafar; Lambert, Raymond; Delvin, Edgard; Schneider, Wolfgang J.; Vliet, Guy Van

doi:10.1016/j.clinbiochem.2004.03.011

Cited by 39 publications

(16 citation statements)

References 8 publications

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“…These patients are presently classified as apparent athyreosis. Only 42% of infants with no uptake on radionuclide scan have undetectable thyroglobulin levels at diagnosis, indicating 'true athyreosis' (25). A recent study suggests that in 15% of infants (6 out of 40) with no uptake on radionuclide scan, thyroid ultrasound detected the presence of thyroid tissue.…”

Section: Discussionmentioning

confidence: 99%

“…Future studies may need to include patients where stricter criteria are used for the establishment of aetiology including assessment with thyroid ultrasound, plasma thyroglobulin levels in the infant and the maternal blocking antibodies are used. It is known that infants with no uptake on radionuclide scan may have presence of hypoplastic thyroid gland on ultrasound and normal levels of thyroglobulin (25,26). These patients are presently classified as apparent athyreosis.…”

Section: Discussionmentioning

confidence: 99%

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Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism

Wong²,

Isherwood³

et al. 2007

eur j endocrinol

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Background: A recent study suggested that sexual dimorphism affects initial thyroid function in congenital hypothyroidism (CH) but differs according to aetiology of CH. Aims: To determine if sexual dimorphism was associated with biochemical severity of CH and its aetiology in our large British population. Methods: We examined retrospectively the initial thyroid function tests of 140 infants diagnosed with CH from screening. All infants underwent Tc-pertechnetate radionuclide scans at diagnosis to establish the aetiology of CH prior to commencement of treatment. Patients were classified into athyreosis, ectopia and presumed dyshormonogenesis on the basis of thyroid scans. A comparison of males and females were made within the three aetiological groups for gestational age, birth weight, initial dose of levothyroxine (LT4), screening TSH, confirmatory plasma thyroxine (T4), confirmatory plasma TSH and age of TSH suppression. Results: There was no significant difference between sexes for gestation, birth weight and initial treatment dose in all aetiological subgroups. In thyroid ectopia, screening TSH and confirmatory plasma TSH were significantly higher in females compared with males (P!0.01), while confirmatory plasma T4 were significantly lower in females (P!0.05). No difference was detected between males and females in athyreosis and dyshormonogenesis subgroups for screening TSH, confirmatory plasma TSH and total T4. Conclusion: Sexual dimorphism influenced the biochemical severity of thyroid ectopia in congenital hypothyroidism in our British population. However, this effect was not apparent in patients with athyreosis or dyshormonogenesis. Further advances in the molecular genetics of CH are essential to evaluate this phenomenon further.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism

Wong²,

Isherwood³

et al. 2007

eur j endocrinol

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“…Detectable TG levels in some of our athyreosis cases can be explained by the presence of rudimentary eutopic thyroid tissue or extrathyroidal TG secretion. Djemli et al [17] have reported that 58% of the infants classified as athyreotic by scintigraphy had detectable plasma TG levels, indicating that they had functional thyroid tissue. Furthermore, thyroglobulin gene expression has recently been demonstrated in extrathyroidal tissues such as kidney and skin cells [18, 19].…”

Section: Discussionmentioning

confidence: 99%

Screening of Parents and Siblings of Patients with Thyroid Dysgenesis by Thyroid Function Tests and Ultrasound

Karakoc

Turan²,

Akpınar³

et al. 2008

Horm Res Paediatr

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Aims: To investigate the frequency of thyroid dysgenesis (TD) in first-degree relatives of TD cases. Methods: 244 first-degree relatives of 82 TD cases were screened by thyroid ultrasound (USG), T₄, fT₄ and TSH. USG was also performed in 220 unrelated, age- and sex-matched healthy controls to obtain normative data for thyroid volumes. Results: Specific diagnoses of indexes were 35 ectopia, 22 athyreosis, 14 severe hypoplasia, 8 hypoplasia, and 3 hemiagenesis/asymmetric hypoplasia. In 5 of 77 families (6.5%), there were 2 cases with known symptomatic TD. A total of 10 cases made familial symptomatic TD ratio 12% (10/82) in our cohort. Screening of 244 asymptomatic family members did not reveal new cases with overt hypothyroidism. However, low thyroid volume in 15 and slightly elevated TSH in 6 family members and both in 1 family member were detected (7.4% for low thyroid volume, 3.2% for high TSH). Thus, the ratio of affected (symptomatic and asymptomatic) family members among families of TD cases was found to be 8.7%. Conclusions: 12% of TD cases are familial in our cohort. Screening of asymptomatic family members of TD revealed an additional 7.4% mild hypoplasia and 3.2% hyperthyrotropinemia without overt hypothyroidism which points out the importance of genetic factors in pathogenesis.

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“…Between 11 and 13 years of age, when the difference was not statistically significant, different pubertal stages could largely affect the L -T4 requirement. Second, recently, as it has been debated over the last two decades [34, 36, 37], the real benefit of the thyroglobulin dosage in CH diagnosis seems to have been more clearly assessed in dysgenetic patients [38]. The improvement of technique sensitivity (nearly 10 times in the last years) accounts for this progress to a large extent, and nowadays the thyroglobulin dosage can be considered an up-to-date tool to confirm the aetiology in CH patients.…”

Section: Discussionmentioning

confidence: 99%

Longitudinal Assessment of Levo-Thyroxine Therapy for Congenital Hypothyroidism: Relationship with Aetiology, Bone Maturation and Biochemical Features

et al. 2007

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Aims: To evaluate therapy and dose adjustments in patients with congenital hypothyroidism (CH), longitudinally followed up until 16 years old, according to aetiology, Beclard’s nuclei presence, and thyroxine (T4) level at diagnosis. Methods:L-T4/kg/day and dose change ratio (CR) were assessed in 74 CH patients. Results: The dose was statistically larger in athyreosis than in dyshormonogenesis (1–10 and beyond 14 years) and in ectopy (2, 15, 16 years). The ectopic children required statistically larger L-T4/kg than the dyshormonogenetic ones (3–7 years). The L-T4/kg/day was increased, not statistically, in patients or with T4 <30 nmol/l or without Beclard’s nuclei at diagnosis. The CR progressively dropped after the 6th month at each attendance, without any difference in terms of aetiology, T4 level at diagnosis, or Beclard’s nuclei. The total CR was greater (significantly) in patients without Beclard’s nuclei, and (not significantly) in those with T4 <30 nmol/l at diagnosis or with agenesia. Conclusion: The L-T4 dose in CH is highly affected by the aetiology. The CR is higher in patients with delayed bone maturation at diagnosis. We suggest that these latter patients need blood tests more frequently to obtain a proper titration of the therapy.

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Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism

Cited by 39 publications

References 8 publications

Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism

Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism

Screening of Parents and Siblings of Patients with Thyroid Dysgenesis by Thyroid Function Tests and Ultrasound

Longitudinal Assessment of Levo-Thyroxine Therapy for Congenital Hypothyroidism: Relationship with Aetiology, Bone Maturation and Biochemical Features

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