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

Andrew R. Hoffman; Tracy Mathison; Deno Andrews; Kristine Murray; Nicky Kelepouris; Maria Fleseriu


J Endo Soc. 2022;6(7) 

In This Article

Abstract and Introduction


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.


The fundamental importance of growth hormone (GH) during adulthood to help maintain proper metabolism, body composition, and quality of life may be underappreciated because GH is primarily recognized for promoting linear growth during childhood and adolescence.[1] Adult GH deficiency (AGHD) is a rare condition that affects approximately 2 to 3 in 10 000 individuals and can be caused by genetic mutations, developmental abnormalities, traumatic brain injury, pituitary or hypothalamic tumors, or surgical or radiologic treatments for these or other nearby tumors.[1–5] AGHD can be classified as either childhood-onset (CO-AGHD) or adult-onset (AO-AGHD), which have estimated incidence rates of 2 in 100 000 and 1 in 100 000 cases per year, respectively.[1] Most cases of CO-AGHD are considered idiopathic, although known causes include genetic mutations, developmental and/or structural defects, and hypothalamic–pituitary tumors, while AO-AGHD is more likely to be caused by hypothalamic–pituitary tumors, traumatic or hemorrhagic brain injury, or infections.[1,6,7]

Clinicians face several challenges when diagnosing and treating AGHD. To better understand these challenges from the patient perspective, patients in the United States living with AGHD and receiving treatment with GH replacement therapy were selected to attend a virtual advisory board meeting to share their experiences. Potential attendees identified through patient networks or advocacy groups were invited by email or fax to be screened for eligibility by Snow, a patient engagement company. Inclusion criteria included aged 18 years and older, a confirmed diagnosis of AGHD due to pituitary adenoma/surgery/radiotherapy, traumatic brain injury, and/or multiple pituitary deficiencies, or patients with CO-AGHD retested as adults who failed GH stimulation testing, and willingness to speak openly about their experience. Patients without any of the above history or who were taking GH to feel better or were being seen in antiaging clinics were excluded. A total of 9 patients (3 with CO-AGHD and 6 with AO-AGHD) who were followed by adult endocrinology experts in AGHD participated in the meeting and were interviewed by authors N.K. and K.M. to obtain first-hand insights on living with AGHD and to identify gaps in the current clinical model for the diagnosis and treatment of this condition. Of the patients with CO-AGHD, 1 had undergone surgery to treat craniopharyngioma, another had partial hypopituitarism and hypothyroidism, while the third was considered idiopathic. All 3 had a diagnosis confirmed by the GH stimulation testing during childhood and received treatment with GH until achieving final height, after which they resumed GH administration as adults after additional GH stimulation testing. The patients with AO-AGHD were diagnosed between the ages of 27 and 38 years and had risk factors that included multiple pituitary hormone deficiency, traumatic brain injury, and pituitary surgery for conditions such as pituitary adenoma (n = 3) and Cushing's syndrome (n = 1), and all except 1 patient with multiple pituitary hormone deficiency had undergone GH stimulation testing to confirm diagnosis. Authors T.M. and D.A., who participated in the advisory board, provided additional details about their experiences during 1-on-1 recorded interviews.