A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB

Autor: Talin Nora Arslanian, Elizabeth Watson, Kimberly Borden, Jordan Yardain Amar
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2017)
Endocrinology, Diabetes & Metabolism Case Reports
ISSN: 2052-0573
DOI: 10.1530/EDM-17-0107
Popis: Summary Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (95th percentile for age and race. In conclusion, this is a case of primary hypopituitarism with differential diagnosis of IGHD vs Idiopathic Short Stature vs Constitutional Growth Delay. This case supports two objectives: Firstly, it highlights the importance of confirmatory genetic testing in patients with suspected, though diagnostically uncertain, IGHD. Secondly, it demonstrates a novel secondary growth pattern with implications for better understanding the tremendous variability of GH treatment response. Learning points: GHD is a common cause of growth retardation, and IGHD is a specific subtype of GHD in which patients present solely with short stature. The standard treatment for IGHD is subcutaneous synthetic GH until mid-parental height is reached, with peak height velocity attained in the 1st year of treatment in the vast majority of patients. Genetic testing should be strongly considered in cases of diagnostic uncertainty prior to initiating treatment. Future investigations of GH treatment response that stratify by gene and specific mutation will help guide treatment decisions. Response to treatment in patients with IGHD is variable, with some patients demonstrating little to no response, while others are ‘super-responders.’
Databáze: OpenAIRE
načítá se...