Abstract
Purpose: To determine if hypergonadotropic hypogonadism related to galactosemia could be linked to anomaly of the circulating FSH. A 26-year-old woman, suffering GALT (Galactoso-1-phosphate uridyltransferase) had a premature ovarian failure with amenorrhea since the age of 19. The circulating level for FSH was 83 and 34 mU/mL for LH.
Methods: After treatment with a hormonal substitution cycle including estradiol and progesterone, the patient underwent stimulations with recombinant FSH. The first cycle, one 16-mm diameter follicle and the second cycle one follicle of 17.5 mm of diameter were obtained at the time of ovulation induction.
Results: The patient conceived and delivered a female baby weighting 3.38 kg after the second stimulation protocol.
Conclusions: The impact of galactosemia on the ovary seems rather related to the absence of recognition of circulating FSH by its receptor and not to a toxic alteration of the ovary by itself as it is currently reported. The rFSH treatment following hormonal substitution cycles allows to overcome infertility problems.
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Menezo, Y.J.R., Lescaille, M., Nicollet, B. et al. Pregnancy and Delivery After Stimulation with rFSH of a Galatosemia Patient Suffering Hypergonadotropic Hypogonadism: Case Report. J Assist Reprod Genet 21, 89–90 (2004). https://doi.org/10.1023/B:JARG.0000027020.28592.7b
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DOI: https://doi.org/10.1023/B:JARG.0000027020.28592.7b