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Exp Clin Endocrinol Diabetes 2025; 133(02): 83-91
DOI: 10.1055/a-2444-4320
Article

Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective

Ja Hye Kim
1   Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (the Republic of) (Ringgold ID: RIN65526)
,
Yena Lee
2   Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea (the Republic of)
,
Soojin Hwang
1   Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (the Republic of) (Ringgold ID: RIN65526)
,
Dohyung Kim
1   Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (the Republic of) (Ringgold ID: RIN65526)
,
Beom Hee Lee
1   Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (the Republic of) (Ringgold ID: RIN65526)
3   Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (the Republic of) (Ringgold ID: RIN368760)
,
Gu-Hwan Kim
3   Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (the Republic of) (Ringgold ID: RIN368760)
,
Han-Wook Yoo
1   Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (the Republic of) (Ringgold ID: RIN65526)
,
Jin-Ho Choi 
1   Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (the Republic of) (Ringgold ID: RIN65526)
› Author AffiliationsSupported by: National Research Foundation of Korea (NRF) NRF2021R1F1A104593011
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Abstract

Objective

Patients with a hepatic type of glycogen storage diseases (GSDs) can manifest endocrine features such as hypoglycemia, dyslipidemia, or osteoporosis. This study aimed to investigate the long-term endocrine consequences in patients with hepatic GSDs.

Methods

This study included 64 patients from 52 families with hepatic GSDs including GSD type Ia (41 patients from 37 families), Ib (3 unrelated), III (8 from 6 families), IV (1 patient), and IX (11 from 5 families). All patients were genetically confirmed. Clinical and endocrine findings were retrospectively analyzed.

Results

The median age at diagnosis and current age were 2.4 years (range, 0.1−42.4 years) and 17.6 years (range, 1.0−47.8 years), respectively. The mean height SDS at diagnosis was –3.5±1.4, and short stature was observed in 35.6% of patients. Patients diagnosed after the age of 3.4 years exhibited a high risk of short stature (OR=36.1; P-value<0.001). Among 33 patients who reached the final height, 23 (69.7%) showed delayed puberty. Hypertriglyceridemia was observed in 46 patients (71.9%), whereas 25 patients (39%) had elevated low-density lipoprotein cholesterol levels during the follow-up period. Among 24 patients who underwent dual-energy X-ray absorptiometry, 22 showed a low bone mineral density Z-score of –3.0±1.3 at the L-spine.

Conclusions

This study described the long-term endocrine consequences in patients with hepatic GSDs. Pediatric endocrinologists should be aware of the presenting features and long-term endocrine sequelae of GSDs to provide proper management and decrease its morbidities.

Keywords

Glycogen storage disease - short stature - delayed puberty - osteoporosis - hypertriglyceridemia

Supplementary Material



Publication History

Received: 09 May 2024

Accepted after revision: 17 October 2024

Accepted Manuscript online:
17 October 2024

Article published online:
13 January 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 

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