Mortality in Children With Early-Detected Congenital Central Hypothyroidism
Open accessAbstract
Context: Approximately 60% to 80% of patients with congenital central hypothyroidism (CH-C) have multiple pituitary hormone deficiencies (MPHDs), making CH-C a potentially life-threatening disease. Data on mortality in patients with CH-C are lacking. Objective: To study the mortality rate in pediatric patients with early-detected and treated CH-C in the Netherlands and to investigate whether causes of death were related to pituitary hormone deficiencies. Methods: Overall mortality rate, infant mortality rate (IMR), and under-5 mortality rate were calculated in all children with CH-C detected by neonatal screening between 1 January 1995 and 1 January 2013. Medical charts were reviewed to establish causes of death. Results: A total of 139 children with CH-C were identified, of which 138 could be traced (82 with MPHD, 56 with isolated CH-C). Total observation time was 1414 years with a median follow-up duration of 10.2 years. The overall mortality rate was 10.9% (15/138). IMR and under-5 mortality rate were 65.2/1000 (9/138) and 101.4/1000 (14/138), respectively, compared with an IMR of 4.7/1000 and under-5 mortality of 5.4/1000 live-born children in the Netherlands during the same time period (P < 0.0001). Main causes of death were severe congenital malformations in six patients, asphyxia in two patients, and congenital or early neonatal infection in two patients. Pituitary hormone deficiency was noted as cause of death in only one infant. Conclusion: We report an increased mortality rate in patients with early-detected CH-C that does not seem to be related to endocrine disease. This suggests that mortality due to pituitary insufficiency is low in patients with early-detected and early-treated CH-C.
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Heritable multiple pituitary hormone deficiencies are associated with an increased mortality risk in newborns and can be associated with variable manifestations, including hypoglycemia, growth and developmental delay, as well as extra-pituitary abnormalities.
“It is associated with an increased mortality risk in newborns [33] and can be associated with variable manifestations, including hypoglycemia, growth and developmental delay, as well as extra-pituitary abnormalities (e.g., typical craniofacial or brain MRI defects) (Table 1).”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [33]
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References 17 · Cited by 15
- Authors
- Zwaveling-Soonawala, N., Naafs, J. C., Verkerk, P. H., & van Trotsenburg, A. S. P.
- Affiliations
- Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands
- Amsterdam UMC Location University of Amsterdam (NL)
- Department of Child Health, Netherlands Organization for Scientific Research, Leiden, Netherlands
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2018-06-07
- Volume
- 103
- Issue
- 8
- Pages
- 3078-3082
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2806069539
- Cited by
- 15
- References
- 17
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2021: 4 · 2020: 4 · 2019: 2 · 2018: 1
- FWCI
- 2.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- TNO Repository (submittedVersion)
- Repository hosted by TU Delft Library (TU Delft) (submittedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
- Keywords
- mortality, multiple pituitary hormone deficiency, newborn screening, early treatment, infant mortality, under-five mortality, causes of death, congenital malformations, asphyxia, neonatal infection, hypopituitarism
- MeSH terms
- Child, Child, Preschool, Congenital Hypothyroidism, Female, Follow-Up Studies, Humans, Hypothyroidism, Infant, Infant Mortality, Infant, Newborn, Male, Mortality, Netherlands, Neonatal Screening, Early Diagnosis, Child Mortality
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