The Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark - a National Observational Study

The pituitary gland is a small pea-sized gland that produces a variety of important hormones. Some children are born with a deficient production of two or more pituitary hormones. This rare and potentially severe disease is called congenital combined pituitary hormone deficiency (cCPHD).

cCPHD can cause many different symptoms, some of which appear shortly after birth and others later in childhood. Symptoms that appear shortly after birth are e.g., development of very low blood sugar, disturbances in the salt balance, and severe dehydration, whereas symptoms that appear later in life are short stature, missing pubertal development, fatigue, and sensitiveness to cold. Fortunately, it is possible to replace the missing hormones.

Currently, it is unknown how common cCPHD is. Therefore, the investigators wish to examine 1) how many children are diagnosed with cCPHD before the age of 18 years, 2) how many children are diagnosed with cCPHD at age <1 year, 1-8 years, 9-17 years, and 3) the patients' hormone deficiency characteristics and brain MRI scans.

The investigators will identify the patients by searching for diagnosis codes used for pituitary disease and pituitary malformations in the Danish National Patient Registry and locally at the four hospitals approved for the treatment of cCPHD in children. Through the searches, the investigators expect to identify approximately 1500 patients. The investigators will then review the hospital files of all identified patients to exclude patients with only one hormone deficiency and patients with an acquired cause of the disease. The investigators aim to include all cCPHD patients in Denmark born in the period 1996 and 2020.