Pregnancy and Delivery After Stimulation with rFSH of a Galatosemia Patient Suffering Hypergonadotropic Hypogonadism: Case Report

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.

Galactose toxicity in animals

“…Concerning long-term complications, neurological disorders [122–127] and POI [72, 128–154] have long been subjects of intense research. More recently osteoporosis [151, 155–160] and skeletal muscle weakness were recognized [161, 162].…”

Galactosemia: The good, the bad, and the unknown

“…At age 26, this woman, who demonstrated an endogenous FSH level of 83 U/L, was stimulated with recombinant FSH (rFSH); she conceived and delivered a healthy baby. The ability of recombinant FSH to restore ovarian function in this woman demonstrated that, at least in this case, infertility reflected functional abnormality of the endogenous FSH, rather than a complete lack of ability of the follicles to recognize and respond to normal FSH (Menezo et al, 2004).…”

“…Of note, these abnormal isoforms were not detected in samples from any of five healthy women studied, or from one woman with a milder variant of galactosemia associated with residual GALT activity. Finally, a case report published 2 years ago by Menezo et al (2004) described the successful treatment of a woman with classic galactosemia who experienced menopause at age 19, and who later wished to conceive a child. At age 26, this woman, who demonstrated an endogenous FSH level of 83 U/L, was stimulated with recombinant FSH (rFSH); she conceived and delivered a healthy baby.…”

Medical Management of Chronic Liver Diseases in Children (Part I)

“…It is unclear how to reduce these risks. [2] Stimulation with folliclestimulating hormone (FSH) [12] or use of exogenous pharmacologic stimulation by gonadotropic hormones [13] may be useful in producing ovulation in some women. Some clinicians have considered ovarian biopsy, with egg preservation for future use, if serum concentrations of FSH and luteinizing hormone rise, thus indicating premature ovarian insufficiency.…”