Leptin Levels in Children and Adults with Classic Galactosaemia

  • Ina KnerrEmail author
  • Karen P. Coss
  • Peter P. Doran
  • Joanne Hughes
  • Nick Wareham
  • Keith Burling
  • Eileen P. Treacy
Research Report
Part of the JIMD Reports book series (JIMD, volume 9)


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.



Anti-Mullerian hormone


Body mass index


Follicle-stimulating hormone


(Classic) Galactosaemia


Galactose-1-phosphate uridyltransferase




Hormone replacement therapy


Luteinising hormone


Not significant


Standard deviation



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.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Ina Knerr
    • 1
    Email author
  • Karen P. Coss
    • 2
  • Peter P. Doran
    • 2
  • Joanne Hughes
    • 1
  • Nick Wareham
    • 3
  • Keith Burling
    • 4
  • Eileen P. Treacy
    • 1
    • 5
  1. 1.National Centre for Inherited Metabolic DisordersChildren’s University HospitalDublinIreland
  2. 2.University College Dublin, Clinical Research Centre, Mater Misericordiae University HospitalDublinIreland
  3. 3.Medical Research Council Epidemiology UnitAddenbrooke’s HospitalCambridgeUK
  4. 4.Core Biochemical Assay LaboratoryCambridge University HospitalsCambridgeUK
  5. 5.Trinity CollegeDublinIreland

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