ESPE Abstracts (2019) 92 P1-395

Presentation and Diagnosis of Childhood Onset Combined Pituitary Hormone Deficiency: A Single Center Experience from Over 30 Years.

Johanna Hietamäki1, Päivi J. Miettinen1, Matti Hero1, Annika Tarkkanen1,2, Taneli Raivio1,2


1Children's Hospital, Pediatric Research Center, Helsinki University Hospital (HUH), Helsinki, Finland. 2Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland


Background: We describe the incidence, etiologies and clinical features of combined pituitary hormone deficiency (CPHD) in pediatric patients from a single tertiary center.

Methods: The cohort comprised of patients with CPHD, treated in the Helsinki University Hospital between 1985 and 2018. They were identified through an ICD-9/ICD-10 code search, and the clinical data were recorded from the patient charts.

Results: Among the 120 patients (3.56 patients/year) with CPHD, the most common etiology was intracranial tumors and their treatment (n=64, 53%; mean (SD) age at presentation for endocrine investigations, 9.3 ± 4.3 yrs (n=60)). Forty-five patients (38%) had an intrinsic disease (isolated hypopituitarism or syndromic) and their mean age at presentation for endocrine investigations was of 3.9 ± 4.2 years (n=41). Half of them (23/45) had presented with neonatal signs of hypopituitarism, including hypoglycaemia, jaundice or micropenis/cryptorchidism and 32 (71%) exhibited extrapituitary phenotypes. Nearly all of the patients (38/39) with MRI investigated had an abnormal brain MRI. There were four families with more than one member with intrinsic hypopituitarism, three of which had a molecular genetic diagnosis. One patient with genetically defined hypopituitarism had died at the age of three years despite adequate hormonal treatment.

Conclusions: We conclude that (i) the diagnoses of intrinsic hypopituitarism predominate in younger patients with CPHD; (ii) early signs of pituitary hormone deficiency were present in a significant proportion of patients with intrinsic CPHD, and thus, should be recognized by all pediatricians, since (iii) congenital CPHD continues to be associated with significant mortality. Genetic investigations of familial cases are currently underway.

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