ESPE Abstracts

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

Methods: For the period 1996–2020, patients with cCPHD were identified from the Danish National Patient Registry and the registries at the four Danish hospitals approved for the management of cCPHD. Retrospective hospital file reviews were performed to validate the diagnosis by uniform criteria. Incidence estimations were performed using background population data.

Findings: We identified a national cCPHD cohort of 127 cCPHD patients, whereof 115 patients were born in Denmark and diagnosed before age 18 years. Eighty-eight (69•3%) were males. The median (range) age at cCPHD diagnosis was 5•9 (0•01–19•04) years. The national incidence (95% CI) of cCPHD diagnosed before age 18 years was 10•12 (7•60–13•47) per 100,000 births from 1996–2002, corresponding to an annual incidence rate of 5•62 (4•22–7•48) per million. The incidence was highest in the group of patients diagnosed aged 1–17 years; 7•75 (5•59–10•75) per 100,000 births, whereas the annual incidence rate was highest in patients diagnosed <1 year; 19•8 (13•9–28•4) per million births. The median (P25, p75) number of hormone deficiencies at cCPHD diagnosis was 3 (2•5; 4) in patients diagnosed aged <1 year vs. 2 (2; 2) in patients diagnosed aged 1–17 years; P<0•0001. Abnormal brain MRI findings were seen in 96•7% (29/30) diagnosed aged <1 year, decreasing to 85•2% (69/81) in the 1–17 years group.

Interpretation: cCPHD had the highest annual incidence rate and the most hormonal deficiencies in patients diagnosed before age 1 year. As late-onset cCPHD had the highest incidence, our study underscores the need for investigations for cCPHD throughout childhood and adolescence in children with isolated PHD.

Funding: Odense University Hospital Fund (j.no. A4599) and Dagmar Marshalls Fund (29/04/2021).