title: The endocrine system in treated patients with classical galactosemia.
abstract: Endocrine abnormalities in classical galactosemia, female hypergonadotropic hypogonadism and low thyroxin in neonates, have been reported. Galactosemia is a secondary glycosylation disorder and hypoglycosylation of glycoproteins has a role in this dysfunction. Hypoglycosylation, improves but does not completely disappear with dietary treatment. Our aim was to evaluate the endocrine system in treated patients (n = 37, 25 females, 12 males, age 5-19 years). Endocrine determinations were compared to age and gender matched reference ranges. Sample t-test (to test differences with reference population) and linear regression analysis between hGH (growth hormone), IGF-1 (insulin-like growth factor), IGFBP-3 (insulin growth factor binding protein), FSH (follicle stimulating hormone), LH (luteinizing hormone) and GALT activity, and soy intake, was carried out. Mean IGF-1 Z-score was -0.98 +/- 0.84 (range -2.59 to 1.21) (P < 0.001) in females and 0.03 +/- 0.55 (range -1.0 to 0.89) (P = 0.84) in males. Mean IGFBP-3 Z-score was -0.98 +/- 1.3 (range -3.0 to 2.0) (P < 0.001) in females and 0.26 +/- 0.93 (range -0.94 to 2.0) (P = 0.35) in males. IGF-1 and IGFBP-3 were positively correlated (P < 0.001). IGF-1 or IGFBP-3 Z-scores and age, hGH, estradiol, GALT activity or soy intake were not correlated. FSH was elevated in females, other axes were normal. Besides the hypergonadotropic hypogonadism in females, IGF-1 and IGFBP-3 are in the low to normal ranges in girls. Hypoglycosylation in galactosemia is diet dependent and could worsen when galactose intake increases either because of poor compliance or diet liberalization.
authors.affiliation: Department of Pediatrics, University Hospital Maastricht, 6202 AZ Maastricht, The Netherlands. mrub@paed.azm.nl
authors.forename: M Estela
authors.initials: ME
authors.lastname: Rubio-Gozalbo
authors.forename: Bianca
authors.initials: B
authors.lastname: Panis
authors.forename: Luc J I
authors.initials: LJ
authors.lastname: Zimmermann
authors.forename: Leo J
authors.initials: LJ
authors.lastname: Spaapen
authors.forename: P P C A
authors.initials: PP
authors.lastname: Menheere
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004038:Diet, Reducing; D004702:Endocrine Glands / Q000378:metabolism*; D005260:Female; D005690:Galactose / Q000378:metabolism / Q000652:urine; D005693:Galactosemias / Q000178:diet therapy*; D006728:Hormones / Q000097:blood*; D006801:Humans; D008297:Male; D013025:Glycine max / Q000737:chemistry
chemical_list: D006728:Hormones; D005690:Galactose