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*

*Kontaktforfatter

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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Abstract

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.
OriginalsprogEngelsk
TidsskriftThe Journal of clinical endocrinology and metabolism
Vol/bind108
Udgave nummer10
Sider (fra-til)2475-2485
Antal sider11
ISSN0021-972X
DOI
StatusUdgivet - 18 sep. 2023

Bibliografisk note

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

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