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Leptin Levels in Children and Adults with Classic Galactosaemia

  • Research Report
  • Chapter
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JIMD Reports – Case and Research Reports, 2012/6

Part of the book series: JIMD Reports ((JIMD,volume 9))

Abstract

Among the long-term complications of Classic Galactosaemia (Gal) is premature ovarian insufficiency (POI) in female patients with subtle abnormalities of reproductive function also reported in male patients. Leptin is a circulating hormone which reflects body energy stores and which affects the neuroendocrine reproductive axis and pubertal development.

We measured serum leptin in 28 children (10 girls, 18 boys; mean age 7.6 years, range 0.5–17.9 years) and in 22 adults (10 females, 12 males; mean age 23.9 years, range 18–37 years) with Gal on a strict galactose-restricted diet in comparison with control data.

Leptin levels (expressed as SDS for gender and pubertal stage) were lower in Gal children than controls (mean leptin-SDS = –0.71 for girls, p < 0.05, –0.97 for boys compared with SDS = 0 for controls, p < 0.05). In an age-related analysis, leptin levels did not correlate with age in children with Gal for both sexes as it did for matched controls.

As expected, females had higher leptin levels than males in either group. In adults with Gal, leptin concentrations were within normal limits for both sexes when adjusted for gender and BMI. There was a linear relationship between log-leptin and BMI in children with Gal and in controls. For Gal women, log-leptin was also associated with BMI. However, for Gal men, and hence for the entire group of adult Gal patients, this association between log-leptin and BMI was not detectable. Our findings suggest that leptin dysregulation may play a role in fertility issues in individuals with Gal from an early age.

Competing interests: None declared.

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Abbreviations

AMH:

Anti-Mullerian hormone

BMI:

Body mass index

FSH:

Follicle-stimulating hormone

Gal:

(Classic) Galactosaemia

GALT:

Galactose-1-phosphate uridyltransferase

HPO:

Hypothalamic-pituitary-ovarian

HRT:

Hormone replacement therapy

LH:

Luteinising hormone

n.s.:

Not significant

SD:

Standard deviation

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Acknowledgement

We would like to thank all our patients who volunteered for the study. We wish to thank our colleagues Dr. Ellen Crushell and Dr. Ahmad A. Monavari for their excellent collaboration. We gratefully acknowledge Dr. Jian’an Luan for his excellent statistical advice. Leptin assays were performed by the NIHR Cambridge Biomedical Research Centre, Core Biochemical Assay Laboratory. CHFFH, Children’s University Hospital and Shire Industries are thanked for financial assistance to perform these studies.

Author information

Authors and Affiliations

  1. National Centre for Inherited Metabolic Disorders, Children’s University Hospital, Temple Street, Dublin, Ireland

    Ina Knerr, Joanne Hughes & Eileen P. Treacy

  2. University College Dublin, Clinical Research Centre, Mater Misericordiae University Hospital, Dublin, Ireland

    Karen P. Coss & Peter P. Doran

  3. Medical Research Council Epidemiology Unit, Addenbrooke’s Hospital, Cambridge, UK

    Nick Wareham

  4. Core Biochemical Assay Laboratory, Cambridge University Hospitals, Cambridge, UK

    Keith Burling

  5. Trinity College, Dublin, Ireland

    Eileen P. Treacy

Authors
  1. Ina Knerr
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  2. Karen P. Coss
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  3. Peter P. Doran
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  4. Joanne Hughes
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  5. Nick Wareham
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  6. Keith Burling
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  7. Eileen P. Treacy
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Correspondence to Ina Knerr .

Editor information

Editors and Affiliations

  1. Sektionen für Humangenetik und Klinische, Medizinische Universität Innsbruck, Innsbruck, Austria

    Johannes Zschocke (Editors-in-Chief) (Editors-in-Chief)

  2. Biological Sciences, Michigan Technological University, Houghton, Michigan, USA

    K. Michael Gibson (Editors-in-Chief) (Editors-in-Chief)

  3. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, UK

    Garry Brown (Editors) (Editors)

  4. Medical Center Department of Pediatrics IGMD, Radboud University Nijmegen, Nijmegen, Netherlands

    Eva Morava (Editors) (Editors)

  5. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters (Managing Editor) (Managing Editor)

Additional information

Communicated by: Frederic Sedel

Synopsis

Synopsis

Leptin is an interesting key molecule for reproductive development and fertility and its dysregulation might play a role in individuals with Gal.

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© 2012 SSIEM and Springer-Verlag Berlin Heidelberg

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Knerr, I. et al. (2012). Leptin Levels in Children and Adults with Classic Galactosaemia. In: Zschocke, J., Gibson, K.M., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports – Case and Research Reports, 2012/6. JIMD Reports, vol 9. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_191

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  • DOI: https://doi.org/10.1007/8904_2012_191

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-35517-2

  • Online ISBN: 978-3-642-35518-9

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