Acquired growth hormone deficiency in Fanconi-Bickel syndrome

• Published in: BMJ case reports Vol. 14; no. 11; p. e246212
• Main Authors: Scully, Kevin J, Wolfsdorf, Joseph, Dedekian, Michael
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group LTD 02-11-2021; BMJ Publishing Group
• Subjects: Acidosis; Age; Case Report; Case reports; Fatty acids; Glucagon; Glucose; Growth hormones; Hemoglobin; Insulin; Insulin-like growth factors; Metabolism; Mutation; Patients; Pediatrics; Peptides; Proteins; Puberty; Rickets; Urinalysis; Urine; Velocity
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2021-246212

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disease, resulting from mutations in the SLC2A2 gene, causing impaired glucose transporter 2 protein transporter protein function, impaired glucose and galactose utilisation, hepatorenal glycogen accumulation and organ dysfunction. Clinical features include failure to thrive, hepatomegaly, rickets, short stature and delayed puberty. Therapy includes electrolyte supplementation and uncooked cornstarch. We present a 15-year-old boy diagnosed with FBS in infancy. Growth velocity was normal on standard treatment until age 8.5 years, at which time growth failure led to a diagnosis of acquired growth hormone (GH) deficiency. Initiation of recombinant human GH (rhGH) replacement of 0.25 μg/kg/week resulted in marked improvement in growth velocity and height. While short stature is expected in FBS, growth velocity that falls below the normal range despite adequate therapy should prompt further evaluation. Our case suggests that acquired GH deficiency can arise in FBS and benefits from rhGH therapy.