Observational studyThe Journal of clinical endocrinology and metabolism2023
Diagnosis and Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark-A National Observational Study.
Observational study in The Journal of clinical endocrinology and metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 9 citations in OpenAlex.
- A Novel LHX3 Variant Associated With Combined Pituitary Hormone Deficiency in an Indian Kindred.Cureus · 2026Article
- Impact of growth hormone treatment on a 12-year-old female with newly diagnosed panhypopituitarism and distal arthrogryposis.Endocrinology, diabetes & metabolism case reports · 2026Article
- Deficiency of anterior pituitary hormones in Noonan syndrome and its impact on response to growth hormone therapy.World journal of clinical pediatrics · 2025Article
- Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study.Annals of pediatric endocrinology & metabolism · 2024Article
- Transcriptional and morphological responses following distinct muscle contraction protocols for Snell dwarf (Pit1Physiological reports · 2024Article
- Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.Reviews in endocrine & metabolic disorders · 2024Review
- Standardizing CRISPR-Cas13 knockdown technique to investigate the role of cdh2 gene in pituitary development through growth hormone expression and transcription factors.Frontiers in endocrinology · 2024Article
- Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.Open life sciences · 2024Article
- Diagnosis and Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark-A National Observational Study.The Journal of clinical endocrinology and metabolism · 2023Observational
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7 authors at 5 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
contextCongenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by congenital factors.
objectiveWe aimed to estimate the national incidence of cCPHD diagnosed before age 18 years and in subgroups.
methodsPatients with cCPHD were identified in the Danish National Patient Registry and Danish hospital registries in the period 1996-2020. Hospital files were reviewed and incidences calculated using background population data. Incidence was the main outcome measure.
resultsWe identified 128 patients with cCPHD; 88 (68.8%) were males. The median (range) age at diagnosis was 6.2 (0.01-19.0) years. The median (25th;75th percentile) number of hormone deficiencies at diagnosis was 3 (3; 4) at <1 year vs 2 (2; 2) at 1-17 years, P < .0001. Abnormal pituitary magnetic resonance imaging findings were seen in 70.3% (83/118). For those born in Denmark aged <18 years at diagnosis (n = 116/128) the estimated national incidence (95% CI) of cCPHD was 10.34 (7.79-13.72) per 100 000 births, with an annual incidence rate of 5.74 (4.33-7.62) per million. In subgroup analysis (diagnosis <1 vs 1-17 years), the incidence was highest in the 1-17 years subgroup, 7.97 (5.77-11.00) vs 1.98 (1.39-2.84) per 100 000 births, whereas the annual incidence rate was highest at <1 year, 19.8 (13.9-28.4) vs 4.69 (3.39-6.47) per million births.
conclusioncCPHD had the highest incidence rate and the most hormone deficiencies in those diagnosed at <1 year. The incidence was highest in the 1-17 years age group, underscoring the need for multiple pituitary hormone investigations throughout childhood and adolescence in children with only 1 hormone deficiency.
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