Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

Cynthia S. Gubbels, Jolande A. Land, Johannes L. H. Evers, Jorgen Bierau, Paul P. C. A. Menheere, Simon G. F. Robben, M. Estela Rubio-Gozalbo*

*Corresponding author for this work

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18 Citations (Web of Science)


FSH inactivity due to secondary hypoglycosylation has been suggested as a potential mechanism for primary ovarian insufficiency in classic galactosemia. To investigate the role of FSH and to gain insight in the timing of the damage, ovarian stimulation tests were performed and data on ovarian imaging collected. Fifteen patients with primary ovarian insufficiency underwent ovarian stimulation with gonadotropins. Only one patient showed a normal increase in estradiol level, all the others had a low or no estradiol response. Anti-Mullerian hormone measurement in all girls and women showed levels below the detection limit of 0.10 mu g/l. Ovarian volumes were evaluated by MRI in 14 patients and compared to age matched controls, prepubertal controls and postmenopausal controls. The ovarian volumes of the galactosemic girls were smaller than those of the age matched controls (p = 0.001) and the prepubertal ovaries (p = 0.008), and did not differ significantly from postmenopausal ovarian volumes (p = 0.161). In conclusion we found no evidence that FSH inactivity plays a role in primary ovarian insufficiency in classic galactosemia. Moreover, ovarian imaging results point to an early onset of ovarian failure in this disease.
Original languageEnglish
Pages (from-to)29-34
JournalJournal of Inherited Metabolic Disease
Issue number1
Publication statusPublished - Jan 2013

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