Journal of Assisted Reproduction and Genetics Journal of Assisted Reproduction and Genetics, Vol. 21, No. 3, March 2004 ( C 2004) Pregnancy and Delivery After Stimulation with rFSH
of a Galatosemia Patient Suffering Hypergonadotropic
Hypogonadism: Case Report

Yves Menezo, JR,1,3 Maryse Lescaille,1 Bernard Nicollet,1 and Edouard J. Servy2
Submitted July 30, 2003; accepted February 27, 2004 Purpose : To determine if hypergonadotropic hypogonadism related to galactosemia could be
linked to anomaly of the circulating FSH. A 26-year ONL
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 proges-
terone, 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.
KEY WORDS: Galactosemia; hypergonadotropic hypogonadism; ovarian stimulation; rFSH.
progesterone are used to assist pubertal changes andto prevent sequelae of early postmenauposal state PROOFREADING
(6,7). In human gonadotropins, carbohydrate struc- lated to the deficiency of one of three different en- ture is related to bioactivity (8,9). More precisely, the zymes in the metabolism of galactose: galactokinase follitropin beta chain shows N-acetyllactosamine re- (GALK), galactoso-1-phosphate uridyltransferase peats. On this basis, we postulated that an aberrant (GALT), the FOR
biologically inactive form of FSH, preventing a nor- epimerase (GALE). It has been generally admitted mal ligand–receptor binding and a proper recognition that galactose and its metabolites could be toxic to the of the circulating FSH was produced.
ovary (1–2). This generally leads to more or less se-vere hypergonadotropic hypogonadism. Women withgalactosemia have a high incidence of ovarian failures CASE REPORT
and childbearing is rather rare (3,4), even if spon-taneous in some cases (5). Exogenous estrogen and VB a 26-year-old Caucasian patient had regular menses up to 19 years of age. She was carrying theGALT-type galactosemia and was submitted to hor- 1 IRH/Laboratoire Marcel Merieux, Bron, France.
monal substitutive treatment including estradiol and 2 The Servy Institute, Augusta, Georgia.
3 To whom correspondence should be addressed; e-mail: [email protected] progesterone. She came for ART counselling after having stopped her hormonal substitution treatment 1058-0468/04/0300-0089/0 C 2004 Plenum Publishing Corporation Journal of Assisted Reproduction and Genetics Menezo, Lescaille, Nicollet, and Servy
for 6 months. Her biological parameters were: a cir- the receptor. The generally admitted direct toxic ef- culating FSH at 83 and LH was 34 IU/L, Estra- fect on the ovary, (1–7) does not fit with our observa- diol 14 pg/mL. Her TSH was within normal range: tion. Galactosemia negatively modulates the biologi- 1.6 mU/L. We advised the couple to undergo ovarian cal activity of FSH (10), more than probably through stimulations with rFSH. Husband sperm is of good a modification of the sugar moeity. Circulating FSH quality (114 millions/mL, 5 mL, 85% living cells, 2/3 is recognized by the radioimmunoassay but not by high quality motility, 33% abnormal forms according the receptor. We are currently investigating the struc- to WHO criteria). We chose rFSH as it allows a “pure” tural modifications of her FSH. In conclusion, the use of rFSH treatment offers new hopes for galactosemia The patient was stimulated twice. She was submit- patients, submitted to premature ovarian failure, to ted first to an artificial cycle treatment (hormone re- placement therapy) including Estradiol (2 tablets ofEstradiol 17 beta: Provames 2 mg) followed by dy-drogesterone (Duphaston 20-mg intravaginally) dur- REFERENCES
ing 10 days. She was then stimulated with 75 IU ofrFSH (Gonalef SERONO) daily during 7 days, start- 1. Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March ing on Day 3, followed by 2 × 75 IU the next 2 days C, Koch R: Hypergonadotropic hypogonadism in female pa- before triggering of ovulation by hCG. At the time of tients with galacosemia. N Engl J Med 1981;304:994–998 2. Kaufman FR, Donnell GN, Roe TF, Kogut MD: Gonadal hCG injection the level of estradiol was 125 pg/mL function in patients with galactosemia. J Inherit Metab Dis and LH 8.2 IU/L; sonography showed a follicle at 16- mm diameter. No pregnancy resulted. In the second 3. Roe TF, Hallat JG, Donnell GN, Ng WG: Childbearing by cycle, she received 75 IU of rFSH daily during 11 days.
galactosemic woman. J Pediatr 1971;8:1026–1030 Estradiol reached 227 pG/mL for a follicle at 17.5 mm 4. Tedesco TA, Morrow G, Mellman WJ: Normal pregnancy and childbirth in a galactosemic woman. J Pediatr 1972;81:1159– of diameter at the time of hCG triggering. The level of FSH was not measured during the rFSH stimula- 5. Briones P, Giros M, Martinez V: Second spontaneous preg- tion protocol, as the endogenous inactive form and nancy in a galactosemic woman homozygous for the Q188R the exogenous form i.e. rFSH were mixed. No extra mutation. J Inherit Metab Dis 2001;24:79–80 estradiol was given during stimulation.
6. Schwarz HP, Zimmermann A, Carasso A, Zuppinger K: Feminization in a galactosemic girl in the presence of hyperg- She conceived and delivered a healthy female baby onadotropic hypogonadism. Acta Endocrinol (Coppenhagen) with a birthweight of 3.380 kg. As usual in this case she was not allowed to breast-feed her baby. Three 7. Gibson JB: Gonadal function in galactosemics and in galactose- months after delivery, her FSH returned to 38 IU/L intoxicated animals. Eur J Pediatr 1995;154(7 Suppl 2):S14-S20 8. Amoresano A, Siciliano R, Orru S, Napoleoni R, Altarocca V, De Luca E, Sirna A, Pucci P: Structural characterisationof human recombinant glycohormones follitropin, lutotropin,and choriogonadotropin expressed in Chinese ovary cells. Eur DISCUSSION
9. Creus S, Chaia Z, Pellizari EH, Cigorraga SB, Ulloa-Aguiire To our knowledge, this is the first time that such A, Campo S: Human FSH isoforms: Carbohydrate complex- a management has been used to assist pregnancy in ity as determinant of in-vitro bioactivity. Mol Cell Endocrinol2001;174:41–49 galactosemia patients with amenorrhea. The impact 10. Prestoz LLC, Couto AS, Shin YS, Petry KG: Altered follicle of galactosemia on the ovary seems simply related to stimulating hormone isoforms in female galactosemia patients.
the absence of recognition of the circulating FSH by Journal of Assisted Reproduction and Genetics, Vol. 21, No. 3, March 2004

Source: http://galactosemie.free.fr/PP1217-jarg-487526.pdf


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