Recent advances in central congenital hypothyroidism

Schoenmakers, Nadia; Alatzoglou, Kyriaki S.; Chatterjee, Krishna; Dattani, Mehul

doi:10.1530/joe-15-0341

Cited by 112 publications

(88 citation statements)

References 158 publications

(199 reference statements)

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“…C ongenital hypothyroidism (CH) is considered as one of the most important preventable causes of mental retardation in children [1]. The incidence of CH is different among neonates of various countries of the world and ranges from 1:2000 to 1:4000 [2][3][4][5][6], the incidence of CH in different areas of Iran is reported to vary from 1:400 to 1:1000 [7,8].…”

Section: S S E E E E E a A A A A R R R R R C C C C C H P H P H P H P mentioning

confidence: 99%

Intelligence Quotient at the Age of Six years of Iranian Children with Congenital Hypothyroidism

et al. 2017

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Objective: To evaluate the success rate of the National newborn screening program in maintenance of intelligent quotient (IQ) of children with congenital hypothyroidism in Iran.Design: Retrospective cohort study. Methods:The IQ scores, in three subsets of verbal, non verbal (Performance) and full scale IQ, of 240 children diagnosed with Transient congenital hypothyroidism (TCH) and Permanent congenital hypothyroidism (PCH), from 5 provinces in 5 different geographical areas of Iran, were measured at the age of 6 years using revised Wechsler pre school and primary scale of intelligence and compared with 240 healthy children. We used independent sample t test and two-way ANOVA for data analysis.Results: Mean of verbal, performance, and full scale IQ scores were lower in the CH cases (permanent and transient) than the control group. Most of the IQ differences in two studied groups related to the PCH cases (P=0.005). Mean difference of IQs between children in the two groups in Yazd province (center of Iran) was higher than other provinces, and they also had significantly lower IQ than their control (healthy) children (P=0.001). No treated child had IQ<70. Conclusion:Although mean IQs of CH children was lower than their controls, IQ of all treated CH cases were close to the healthy children.Keywords: Management, Neonatal screening, Outcome. R R R R R E E E E E S S S S S E E E E E A A A A A R R R R R C C C C C H P H P H P H P H P AA A A A P P P P P E E E E E R R R R R C ongenital hypothyroidism (CH) is considered as one of the most important preventable causes of mental retardation in children [1]. The incidence of CH is different among neonates of various countries of the world and ranges from 1:2000 to 1:4000 [2-6], the incidence of CH in different areas of Iran is reported to vary from 1:400 to 1:1000 [7,8].In Iran, a National program of neonate screening was established from 2004-2005 [9]. In this program, thyroidstimulating hormone (TSH) is measured as a primary test, and positive tests are confirmed by serum thyroxine (T4). By the end of 2015, over 9 million neonates were screened and over 10 thousand children were diagnosed with CH and treated with levothyroxine (L-Thyroxine).The evaluation of this mass screening program, particularly from the view of maintaining the IQ of children with CH at the national level has been done [10,11], but there have been no systematic long-term follow-up studies for evaluation of intervention/treatment outcomes among hypothyroid children diagnosed by the nationwide newborn screening program in Iran. This study was done to assess the IQ of hypothyroid children diagnosed by national program of CH screening at age of 6 years, compared with healthy children in Iran. METHODSThis was a retrospective cohort study conducted in five provinces in different geographical areas of Iran. A total of 480 children in two study groups, including 240 children with CH and 240 healthy children were investigated in this comparative study. We first specified our samples based on mean difference sampl...

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Section: S S E E E E E a A A A A R R R R R C C C C C H P H P H P H P mentioning

confidence: 99%

Intelligence Quotient at the Age of Six years of Iranian Children with Congenital Hypothyroidism

et al. 2017

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“…Congenital hypothyroidism is the most common inborn endocrine disorder, with a prevalence of 1 in 3,000 to 4,000 newborn infants, that is most commonly due to abnormalities in thyroid development (thyroid dysgenesis) and includes mutations in thyroid transcription factor 1 (TTF1, also referred to as NKX2.1), TTF2 (also referred to as FOXE1), and paired box 8 (PAX8), genes that are critical for thyroid development (12)(13)(14)(15)(16)(17)(18). About 15% of the cases with congenital hypothyroidism are related to defects in TH biosynthesis (dyshormonogenesis) and include genetic alterations in genes critical for TH synthesis, such as TPO, TG, NIS, dual oxidase 2 and A2 (DUOX2 and DUOXA2), PDS, iodotyrosine deiodinase (IYD), and TSHR (17,(19)(20)(21)(22)(23).…”

Section: Introductionmentioning

confidence: 99%

GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation

Kang¹,

Kumar²,

Liao³

et al. 2017

Journal of Clinical Investigation

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“…At birth, most countries effectively screen for primary CH by thyrotropin (TSH) determination [1]. However, this approach misses central CH (CCH), which is caused by disorders of the hypothalamic-hypophyseal system and characterized by impaired TSH production, resulting in low circulating thyroid hormones in combination with low, inappropriately normal, or slightly elevated TSH levels [2]. Although CCH was previously assumed as a rare, mild, and non-relevant disorder, nowadays its spectrum includes an important risk of morbidity, especially when severe cases remain untreated [3, 4].…”

Section: Introductionmentioning

confidence: 99%

“…This may result in recurrent hypoglycemia and acute adrenal insufficiency with impairment of growth and neurodevelopment [2, 5, 6]. Specific symptoms are not usually observed in CCH, and even in those cases where some unspecific clinical findings such as hypoglycemia or cholestasis appear, CCPHD may remain unrecognized during the neonatal period [7].…”

Section: Introductionmentioning

confidence: 99%

“…These include several monogenic disorders such as mutations in thyroid-stimulating hormone beta subunit ( β-TSH ) [3, 8], TSH-releasing hormone receptor defects ( TRH-R ) [9-11], immunoglobulin super family member 1 gene (IGSF1) [12, 13], and transducin-like protein 1 X-linked (TBLX1) [14]. Each of these has its own clinical and biochemical characteristics, and if no specific study at birth is performed, they are frequently undiagnosed until later [2, 15]. …”

Section: Introductionmentioning

confidence: 99%

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Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection

Braslavsky¹,

Méndez

Prieto

et al. 2017

Horm Res Paediatr

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Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T₄) measurements was implemented in term newborns aged 2–7 days. Those with T₄ ≤4.5 µg/dL (–2.3 SDS) and TSH <10 mIU/L were recalled (suspicious of CCH) and underwent clinical and biochemical assessment performed by expert pediatric endocrinologists. Results: A total of 67,719 newborns were screened. Primary CH was confirmed in 24 (1: 2,821). Forty-four newborns with potential CCH were recalled (recall rate 0.07%) at a mean age of 12.6 ± 4.8 days. In this group, permanent CCH was confirmed in 3 (1: 22,573), starting L-T₄ treatment at a mean age of 12.3 ± 6.6 days; 14 boys showed T₄-binding globulin deficiency (1: 4,837); 24 had transient hypothyroxinemia (21 non-thyroidal illness and 3 healthy); and 3 died before the confirmation stage. According to initial free T₄ measurements, CCH patients had moderate hypothyroidism. Conclusions: Adding T₄ to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitarism and recognizing other thyroidal disorders.

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Recent advances in central congenital hypothyroidism

Cited by 112 publications

References 158 publications

Intelligence Quotient at the Age of Six years of Iranian Children with Congenital Hypothyroidism

Intelligence Quotient at the Age of Six years of Iranian Children with Congenital Hypothyroidism

GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation

Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection

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