Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.

ABSTRACT:

Background

Childhood-onset combined pituitary hormone deficiency (CPHD) has a wide spectrum of etiologies and genetic causes for congenital disease. We aimed to describe the clinical spectrum and genetic etiologies of CPHD in a single tertiary center and estimate the population-level incidence of congenital CPHD.

Methods

The retrospective clinical cohort comprised 124 CPHD patients (48 with congenital CPHD) treated at the Helsinki University Hospital (HUH) Children's Hospital between 1985 and 2018. Clinical data were collected from the patient charts. Whole exome sequencing was performed in 21 patients with congenital CPHD of unknown etiology.

Findings

The majority (61%;76/124) of the patients had acquired CPHD, most frequently due to craniopharyngiomas and gliomas. T

SUBMITTER: Hietamaki J 

PROVIDER: S-EPMC9304914 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature