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Congenital Hypothyroidism

Congenital Hypothyroidism — Manual Literature Research

Manual MONDO:0018612

Congenital Hypothyroidism — Manual Literature Research

Research Method

Manual PubMed search and literature review (no deep research API keys available). Searched PubMed for: congenital hypothyroidism review, thyroid dysgenesis genetics, thyroid dyshormonogenesis, newborn screening, levothyroxine treatment outcomes.

Key References Used

  1. PMID:33272083 — van Trotsenburg et al. (2021) "Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update" — ENDO-ERN consensus guidelines. Comprehensive coverage of screening, diagnosis, treatment, and genetics.

  2. PMID:29405999 — Wassner (2018) "Congenital Hypothyroidism" — Review covering etiology (dysgenesis vs dyshormonogenesis), screening, and treatment.

  3. PMID:25729683 — Agrawal et al. (2015) "Congenital hypothyroidism" — Review covering epidemiology (85% dysgenesis, 15% dyshormonogenesis), clinical features, screening, treatment.

  4. PMID:41303336 — Dermitzaki et al. (2025) "Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis" — Review of 10 established TD genes (TSHR, PAX8, NKX2-1, NKX2-5, FOXE1, JAG1, NTN1, GLIS3, CDC8A, TUBB1).

  5. PMID:29650690 — Sun et al. (2018) "The genetic characteristics of congenital hypothyroidism in China" — NGS of 21 genes in 110 patients showing DUOX2 most frequently mutated; dyshormonogenesis predominant in Chinese population.

  6. PMID:37390946 — Zhang et al. (2023) "Clinical, biochemical characteristics and genotype-phenotype analysis" — DUOX2 highest variant rate, followed by TG, TPO, TSHR.

Key Facts

  • Incidence: 1:2000–1:3000 for primary CH; ~1:16,000 for central CH
  • Thyroid dysgenesis accounts for 65–85% of primary CH cases
  • Dyshormonogenesis accounts for 15–35% (higher in some populations)
  • Category: Complex (both genetic and environmental/iodine factors)
  • Newborn screening has nearly eliminated cretinism where implemented
  • Early levothyroxine treatment (within 2 weeks) is critical for neurodevelopment