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.
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.
Authors: Rebecca D Sanders; Jessica B Spencer; Michael P Epstein; Susan V Pollak; Pratibhasri A Vardhana; Joyce W Lustbader; Judith L Fridovich-Keil Journal: Fertil Steril Date: 2008-08-05 Impact factor: 7.329
Authors: Cynthia S Gubbels; Chris M G Thomas; Will K W H Wodzig; André J Olthaar; Jaak Jaeken; Fred C G J Sweep; M Estela Rubio-Gozalbo Journal: J Inherit Metab Dis Date: 2010-09-03 Impact factor: 4.982