title: Leptin levels in children and adults with classic galactosaemia.
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.
authors: National Centre for Inherited Metabolic Disorders, Children's University Hospital, Temple Street, Dublin, Ireland. ina.knerr@cuh.ie.
authors: Ina
authors: I
authors: Knerr
authors: University College Dublin, Clinical Research Centre, Mater Misericordiae University Hospital, Dublin, Ireland.
authors: Karen P
authors: KP
authors: Coss
authors: University College Dublin, Clinical Research Centre, Mater Misericordiae University Hospital, Dublin, Ireland.
authors: Peter P
authors: PP
authors: Doran
authors: National Centre for Inherited Metabolic Disorders, Children's University Hospital, Temple Street, Dublin, Ireland.
authors: Joanne
authors: J
authors: Hughes
authors: Medical Research Council Epidemiology Unit, Addenbrooke's Hospital, Cambridge, UK.
authors: Nick
authors: N
authors: Wareham
authors: Core Biochemical Assay Laboratory, Cambridge University Hospitals, Cambridge, UK.
authors: Keith
authors: K
authors: Burling
authors: National Centre for Inherited Metabolic Disorders, Children's University Hospital, Temple Street, Dublin, Ireland.|Trinity College, Dublin, Ireland.
authors: Eileen P
authors: EP
authors: Treacy