Is the current threshold level for screening for congenital hypothyroidism too high? An audit of the clinical evaluation, confirmatory diagnostic tests and treatment of infants with increased blood spot thyroid-stimulating hormone concentrations identified on newborn blood spot screening in Wales

The consequences of using low blood-spot thyroid-stimulating hormone (b-TSH) cut-off values for newborn screening of congenital hypothyroidism (CH) are largely unknown. Therefore, the impact on CH epidemiology and classification generated by the introduction in our Italian region of a low b-TSH cut-off during 1999–2005 was retrospectively examined. This work was recently performed in collaboration with the Laboratory for Neonatal Screening and the Principal Follow-up Centre of the Lombardy region. The incidence of CH in this Italian population was 1:1,446 live births, with a predominance of functional over morphogenetic defects. The use of low b-TSH cut-offs allowed the detection of an unsuspected number of children with neonatal hypothyroidism, evolving to mild permanent thyroid dysfunction later in life. Premature birth was associated with a three- to five-fold increased risk of CH with glandin situ.

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Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10 mU/L

Archives of Disease in Childhood ◽

10.1136/archdischild-2015-309564 ◽

2016 ◽

Vol 103 (1) ◽

pp. 65-67 ◽

Cited By ~ 7

Author(s):

Jeremy H Jones ◽

Sarah Smith ◽

Catherine Dorrian ◽

Avril Mason ◽

M Guftar Shaikh

Keyword(s):

Congenital Hypothyroidism ◽

Thyroid Stimulating Hormone ◽

Lower Threshold ◽

Diagnostic Challenge ◽

Thyroxine Therapy ◽

Thyroid Ectopia ◽

Neonatal Blood ◽

The Uk ◽

Blood Spot ◽

Stimulating Hormone

BackgroundThe UK recommended lower threshold for neonatal blood spot thyroid stimulating hormone (TSH) screening for congenital hypothyroidism (CHT) is 10.0 mU/L. Some laboratories use lower thresholds. This will lead to referral of mildly or unaffected infants but some will require thyroxine therapy.MethodsLaboratory referrals with a first or repeat capillary TSH between 8.0 and <10.0 mU/L were identified (January 2004 to March 2014). The outcome of these cases was examined.Results26 infants had one or more blood spot TSH values between 8.0 and 9.99 mU/L; 65% had transient elevated neonatal TSH while one is awaiting diagnostic challenge. The remaining eight (31%) have permanent CHT; three with dyshormonogenesis, two with thyroid ectopia and the others met the criteria for definite CHT. Two out of three with dyshormonogenesis presented with decompensated hypothyroidism.ConclusionsInfants with permanent and occasionally severe CHT may have a screening TSH below the UK recommended lower cut-off.

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CLINICAL EVALUATION OF THE THYROID STIMULATING HORMONE ACTIVITY IN EXOPHTHALMOS

Acta Endocrinologica ◽

10.1530/acta.0.0380577 ◽

1961 ◽

Vol 38 (4) ◽

pp. 577-584 ◽

Cited By ~ 3

Author(s):

Sven Erik Björkman ◽

Torsten Denneberg ◽

Inge Hedenskog

Keyword(s):

Clinical Evaluation ◽

Thyroid Stimulating Hormone ◽

Significant Rise ◽

Hormone Activity ◽

Control Subjects ◽

Long Duration ◽

Stimulating Factor ◽

Stimulating Hormone

ABSTRACT A method for demonstrating the presence of a thyroid stimulating factor in the blood of patients with progressive exophthalmos after thyroidectomy or after treatment with radioiodine is described. The method consists of transfusing freshly drawn blood from the patients to euthyroid recipients and subsequently following the PBI level of the recipients at regular intervals. Six exophthalmic patients tested in this manner were found to have such a factor in their circulating blood. After transfusion of their blood a significant rise in the PBI level of the recipients could be demonstrated. Two other patients, one with exophthalmos of long duration did not show this response nor did it occur after transfusion of blood from two control subjects. In one case the action of this factor was compared with that of animal thyrotrophin and found to be of the same magnitude.

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Impact of maternal thyroid disease on neonatal thyroid status

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0349 ◽

2020 ◽

Vol 0 (0) ◽

Author(s):

Lakshmi Venugopalan ◽

Aishwarya Rajan ◽

Hemchand. K. Prasad ◽

Anupama Sankaran ◽

Gnanabalan Murugesan ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Thyroid Stimulating Hormone ◽

Study Group ◽

Thyroid Status ◽

Case Identification ◽

Group I ◽

Group Ii ◽

Maternal Thyroid ◽

Heel Prick ◽

Stimulating Hormone

AbstractObjectivesPrevalence of Maternal and congenital hypothyroidism is on the rise. To present the thyroid stimulating hormone screening results in babies born to hypothyroid mothers and assess the burden, aetiology of hypothyroidism in these babiesMethodsAll antenatal mothers attending our hospital during the study period were enrolled into the study. Group I includes 249 term babies born to hypothyroid mothers and group II comprises 2154 newborns born to mothers who are euthyroid. Heel prick thyroid stimulating hormone was done for all newborns on day 3 for both groups. Confirmatory venous testing was done for all for babies in group I and screen positives belonging to group II. Evaluation and therapy done as per standard guidelines.ResultsThyroid stimulating hormone values in the two groups are presented. There was significant correlation between peak maternal thyroid stimulating hormone and neonatal day 3 heel prick in group I (r=0.7, P<0.05). The prevalence of positive screening test in groups I and II was 3.8 and 1.03% (p<0.05) whereas corresponding values for confirmed disease was 4.3 and 0.6%, respectively (p<0.05). Aetiological evaluation revealed both transient hypothyroidism (33.3%) and permanent hypothyroidism (66.6%).Conclusion4.3% of babies born to hypothyroid mothers develop congenital hypothyroidism; aetiology being both transient and permanent. A venous test by 3 weeks is helpful in these babies to improve case identification.

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Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

Global Pediatric Health ◽

10.1177/2333794x14567193 ◽

2015 ◽

Vol 2 ◽

pp. 2333794X1456719 ◽

Cited By ~ 3

Author(s):

Xin Fan ◽

Shaoke Chen ◽

Jiale Qian ◽

Suren Sooranna ◽

Jingi Luo ◽

...

Keyword(s):

Newborn Screening ◽

Congenital Hypothyroidism ◽

Screening Program ◽

Thyroid Stimulating Hormone ◽

Who Guidelines ◽

Newborn Screening Program ◽

Study Results ◽

Stimulating Hormone

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.

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Maternal education and newborn thyroid-stimulating hormone level in a congenital hypothyroidism screening program

The Journal of Maternal-Fetal & Neonatal Medicine ◽

10.1080/14767058.2018.1559809 ◽

2019 ◽

Vol 33 (16) ◽

pp. 2730-2734

Author(s):

Junhong Leng ◽

Ping Shao ◽

Shuang Zhang ◽

Nan Li ◽

Lei Pan ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Maternal Education ◽

Hormone Level ◽

Screening Program ◽

Thyroid Stimulating Hormone ◽

Stimulating Hormone

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Primary Thyroid Stimulating Hormone Screening for Congenital Hypothyroidism in King Abdullah Hospital, Bisha, Saudi Arabia

Cureus ◽

10.7759/cureus.7166 ◽

2020 ◽

Cited By ~ 1

Author(s):

Mohammed Abbas ◽

Eltayeb Tayrab ◽

Abedelmonium Elmakki ◽

Jowayria Tayrab ◽

Abdullah Al-shahrani ◽

...

Keyword(s):

Saudi Arabia ◽

Congenital Hypothyroidism ◽

Thyroid Stimulating Hormone ◽

Stimulating Hormone

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Screening for Hypothyroidism

PEDIATRICS ◽

10.1542/peds.72.2.263 ◽

1983 ◽

Vol 72 (2) ◽

pp. 263-264

Author(s):

Howard W. Kilbride ◽

Robert J. Lull ◽

Heinz G. Lehman

Keyword(s):

New England ◽

Congenital Hypothyroidism ◽

Human Error ◽

Screening Program ◽

Thyroid Stimulating Hormone ◽

The Past ◽

Cause Of Failure ◽

Stimulating Hormone

Although the New England Regional Screening Program report1 indicates that human error is the most likely cause of failure to detect congenital hypothyroidism in infants, our experience suggests that compensated hypothyroidism might be missed in some newborns unless screening includes a thyroid-stimulating hormone (TSH) assay and a thyroxine (T4) concentration. In the past 2 years, we have diagnosed congenital hypothyroidism in three infants. In at least one of these infants, the disease would not have been identified by T4 concentration screening alone.

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