Short summary

The aim of the project is to describe the long-term clinical course in patients with Congenital Combined Pituitary Hormone Deficiency (cCPHD). The study is a follow-up of the established national cohort of 128 cCPHD patients born between 1996 and 2020. Methods include retrospective hospital file reviews and questionnaires. Data will be extracted on pregnancy/birth details, syndromic features, genetic, MRI of the brain/pituitary, treatment, neurological impairment, daily life performance, etc.

Rationale

cCPHD is a rare condition characterized by partial or complete loss of at least two pituitary hormones due to genetic factors or malformation with clinical onset in infancy or childhood. Symptomatology varies based on type/number/severity of hormone deficiencies, age at onset, cerebral comorbidities (e.g. blindness) and disease duration. Little is known about the clinical course of patients with cCPHD in long-term follow-up. Our national cohort provides a unique possibility to perform such a follow-up study with least possible selection bias.

Description of the cohort

128 patients diagnosed with Congenital Combined Pituitary Hormone Defiency (cCPHD) in Denmark born between 1996 to 2020 is already included in the cohort. Furthermore patients diagnosed with cCPHD from 01.01.2021 to 01.07.2024 from Odense University Hospital, Rigshospitalet, Aarhus University Hospital and Aalborg University Hospital will be included in the cohort.

Data and biological material

Data selected to be extracted from patients' journals: Birth and pregnancy data, parents and family history of disease, syndromic features, other cerebral anomalities, age at diagnosis, diagnostic imaging, growth data, medical treatment, neurological impairment (e.g. cerebral blindness / speto-optic dysplasia, mental retardation, epilepsy), daily life performance (e.g. school, education), mental health, fertility-information, organizational data (follow-up on tertiary center; other), and performed genetic analyses. Missing data and additional information about daily life performance and quality of life will be gathered in the questionnaire.

Collaborating researchers and departments

Department of Endocrinology, Odense Universitetshospital.

• Marianne Skovsager Andersen

Department of Growth and Reproduction, Rigshospitalet.

• Line Hartvig Cleemann
• Department of Endocrinology, Rigshospitalet
• Caroline Kistorp

Department of Pediatrics and Adolescent, Aarhus University Hospital

• Astrid Bruun Rasmussen
• Department of Endocrinology and Internal Medicin, Aarhus University Hospital
• Kirstine Stochholm

The department of Pediatrics, Aalborg University Hospital

• Ann-Margrethe Rønholt Christensen

The Department of Endocrinology, Aalborg University Hospital

• Jakob Dal