Diagnosis and Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark - a national observational study

Louise Kjersgaard Jakobsen, Rikke Beck Jensen, Niels Holtum Birkebæk, Dorte Hansen, Ann-Margrethe Rønholt Christensen, Maja Carsting Bjerrum, Henrik Thybo Christesen*


Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

11 Downloads (Pure)


Context: Congenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by genetic factors or malformation.

Objective: We aimed to estimate the national incidence of cCPHD diagnosed before age 18 years and in subgroups.

Design, setting, and patients: cCPHD patients 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.

Interventions: None.

Main outcome measure: Incidence.

Results: We identified 128 cCPHD patients; 88 (68·8%) were males. The median (range) age at diagnosis was 6·2 (0·01-19·0) years. The median (p25; p75) number of hormone deficiencies at diagnosis was 3 (3; 4) < 1 year vs. 2 (2; 2) at 1-17 years, p < 0·0001. Abnormal pituitary MRI findings were seen in 70·3% (83/118).For those born in Denmark with age <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 subgroup 1-17 years; 7·97 (5·77-11·00) vs. 1·98 (1·39-2·84) per 100,000 births, whereas the annual incidence rate was highest <1 year; 19·8 (13·9-28·4) vs. 4·69 (3·39-6·47) per million births.

Conclusion: cCPHD had the highest incidence rate and the most hormone deficiencies in those diagnosed <1 year. The incidence was highest i.the 1-17 years' age group, underscoring the need for multiple pituitary hormone investigations throughout childhood and adolescence in children with only one hormone deficiency.
TidsskriftThe Journal of clinical endocrinology and metabolism
Udgave nummer10
Sider (fra-til)2475-2485
Antal sider11
StatusUdgivet - 18 sep. 2023

Bibliografisk note

© The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society.


Dyk ned i forskningsemnerne om 'Diagnosis and Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark - a national observational study'. Sammen danner de et unikt fingeraftryk.