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.
Similar content being viewed by others
References
Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R: Hypergonadotropic hypogonadism in female patients with galacosemia. N Engl J Med 1981;304:994-998
Kaufman FR, Donnell GN, Roe TF, Kogut MD: Gonadal function in patients with galactosemia. J Inherit Metab Dis 1986;9:140-146
Roe TF, Hallat JG, Donnell GN, Ng WG: Childbearing by galactosemic woman. J Pediatr 1971;8:1026-1030
Tedesco TA, Morrow G, Mellman WJ: Normal pregnancy and childbirth in a galactosemic woman. J Pediatr 1972;81:1159-1161
Briones P, Giros M, Martinez V: Second spontaneous pregnancy in a galactosemic woman homozygous for the Q188R mutation. J Inherit Metab Dis 2001;24:79-80
Schwarz HP, Zimmermann A, Carasso A, Zuppinger K: Feminization in a galactosemic girl in the presence of hypergonadotropic hypogonadism. Acta Endocrinol (Coppenhagen) 1986;279(Suppl):428-433
Gibson JB: Gonadal function in galactosemics and in galactose-intoxicated animals. Eur J Pediatr 1995;154(7 Suppl 2):S14-S20
Amoresano A, Siciliano R, Orru S, Napoleoni R, Altarocca V, De Luca E, Sirna A, Pucci P: Structural characterisation of human recombinant glycohormones follitropin, lutotropin, and choriogonadotropin expressed in Chinese ovary cells. Eur J Biochem 1996;242:608-618
Creus S, Chaia Z, Pellizari EH, Cigorraga SB, Ulloa-Aguiire A, Campo S: Human FSH isoforms: Carbohydrate complexity as determinant of in-vitro bioactivity. Mol Cell Endocrinol 2001;174:41-49
Prestoz LLC, Couto AS, Shin YS, Petry KG: Altered follicle stimulating hormone isoforms in female galactosemia patients. Eur J Pediatr 1997;156:116-120
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
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
Issue Date:
DOI: https://doi.org/10.1023/B:JARG.0000027020.28592.7b