ReviewThe Journal of endocrinology2015
Recent advances in central congenital hypothyroidism.
Review in The Journal of endocrinology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 120 citations in OpenAlex.
- Retrospective, multicentre evaluation of central congenital hypothyroidism in the UK.European thyroid journal · 2026Article
- Exploring reference ranges for thyroid-stimulating hormone in neonatal screening tests for preterm infants: a 5-year retrospective study.Frontiers in pediatrics · 2026Article
- Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene.International journal of molecular sciences · 2025Article
- Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis.The Journal of clinical endocrinology and metabolism · 2025Article
- Newborn screening for central congenital hypothyroidism: past, present and future.European thyroid journal · 2025Review
- Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.Biomedical reports · 2025Article
- The molecular basis of hypoprolactinaemia.Reviews in endocrine & metabolic disorders · 2024Review
- Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.International journal of neonatal screening · 2024Article
- A deep learning framework for predicting disease-gene associations with functional modules and graph augmentation.BMC bioinformatics · 2024Article
- Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.Reviews in endocrine & metabolic disorders · 2024Review
- Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.The Yale journal of biology and medicine · 2023Article
- Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.Hormones (Athens, Greece) · 2023Review
- Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?European thyroid journal · 2023Review
- Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4.International journal of general medicine · 2023Article
- Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Levothyroxine treatment for congenital hypothyroidism based on thyroid function: a 10-year clinical retrospective study.BMC endocrine disorders · 2022Article
- Article
- The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular GrowthJournal of clinical research in pediatric endocrinology · 2021Article
- Impairment of the Hypothalamus-Pituitary-Thyroid Axis Caused by Naturally OccurringInternational journal of molecular sciences · 2021Article
- Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts' consensus.Molecular and cellular pediatrics · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16 000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated neonatal hypothyroidism. Alternatively, coexisting growth hormones or ACTH deficiency may pose additional risks, such as life threatening hypoglycaemia. Genetic ascertainment is possible in a minority of cases and reveals mutations in genes controlling the TSH biosynthetic pathway (TSHB, TRHR, IGSF1) in isolated TSH deficiency, or early (HESX1, LHX3, LHX4, SOX3, OTX2) or late (PROP1, POU1F1) pituitary transcription factors in combined hormone deficits. Since TSH cannot be used as an indicator of euthyroidism, adequacy of treatment can be difficult to monitor due to a paucity of alternative biomarkers. This review will summarize the normal physiology of pituitary development and the hypothalamic-pituitary-thyroid axis, then describe known genetic causes of isolated central hypothyroidism and combined pituitary hormone deficits associated with TSH deficiency. Difficulties in diagnosis and management of these conditions will then be discussed.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.