Adult Growth Hormone Deficiency: Diagnostic and Treatment Journeys From the Patients' Perspective

Abstract

Adult growth hormone deficiency (AGHD) is a rare and serious condition associated with significant morbidity, including reduced quality of life, and is underdiagnosed and often missed in patients. Although the onset of AGHD can occur in either childhood or adulthood, adult-onset AGHD is more difficult to identify as it lacks the auxologic signs caused by GHD during childhood, includes symptoms that tend to be nonspecific, and lacks reliable, simple biomarker testing options. A panel of 9 patients with AGHD (3 with childhood onset; 6 with adult onset) was assembled to share their first-hand experiences, to help reveal important areas of need, increase health literacy, and to raise awareness about GHD among patients, caregivers, and healthcare practitioners. Interviews with patients yielded valuable insights from the patient perspective to supplement prior knowledge about AGHD symptomatology, biomarker testing, and treatment outcomes. Some patients described a burdensome and ineffective screening process that sometimes included many visits to different specialists, repeated rounds of biomarker testing, and, in some cases, excessive delays in AGHD diagnosis. All patients expressed frustration with insurance companies that often resist and/or delay treatment authorization and reimbursement and frequently require additional testing to verify the diagnosis, often leading to treatment gaps. These findings emphasize the necessity of more efficient identification and screening of patients with possible AGHD, better recognition by clinicians and insurance providers of the importance of sustained GH replacement therapy during adulthood, and better patient support for accessing and maintaining uninterrupted GH replacement therapy for patients with documented AGHD.

Keywords: adult-onset growth hormone deficiency; childhood-onset growth hormone deficiency; growth hormone replacement therapy; growth hormone stimulation testing.

Figure 1.

The diagnostic path and experiences of patients with AGHD. Events in the diagnostic pathway are outlined in solid boxes, and patient experiences and challenges are outlined in dashed boxes. Events/experiences/challenges for patients with CO-AGHD appear in gray; those for patients with AO-GHD appear in teal and blue boxes; those that pertain to more than 1 patient group have been shaded to reflect pertinent patient groups. AGHD, adult growth hormone deficiency; AO-AGHD, adult-onset growth hormone deficiency; CO-AGHD, childhood-onset growth hormone deficiency; GH, growth hormone; IGF-I, insulin-like growth factor I [1, 6, 7].