Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome

Abstract

Severe ovarian hyperstimulation syndrome (OHSS) is a potentially life-threatening complication during assisted reproduction technology (ART). The aetiology of this condition is still not fully understood. Several gene variations in the FSH receptor (FSHR) gene have been identified for the very rare cases of spontaneous OHSS. There are only few published data on gene variations in sterility and iatrogenic OHSS and no data regarding aromatase (cytochrome P450 19A1; CYP19A1). Ninety-one ART patients with OHSS, eighty-eight ART patients without OHSS and ninety-seven women with assumed normal fecundity were analysed for the FSHR single nucleotide polymorphism (SNP) gene variations Asn680Ser (rs6166), Ala189Val, Ile160Thr, Thr449Ile (rs28928870) and the CYP19A1 rs10046 locus using real-time PCR. In addition, exon 10 of FSHR of two patients with spontaneous hyperreactio luteinalis (HL) was sequenced. Significantly lower frequencies of homozygous Ser

Ala307Thr and Asn680Ser Polymorphisms ofFSHRGene in Human Reproduction Outcomes

“…Perez Mayorga et al [20] was the first group that observed differences in Asn680Ser genotypes with dose of rFSH in COH. Other groups observed that the FSHR variants influence the basal FSH and estradiol levels with conflicting results [23,24,25,26,27], for this reason, the FSHR gene and others gene variations may play a role in modulating receptor sensitivity and intracellular second messenger cascades to exogenous hCG and other gonadotrophins [24,28], thus the FSHR SNPs may cause changes in the phosphorylation and glycosylation molecular mechanisms [29,30]. …”

Follicle stimulating hormone secreting pituitary adenoma: a challenging diagnosis

“…9 Although several FSH receptor mutations have been identified for very rare cases of spontaneous ovarian hyperstimulation, no pathological abnormalities have been identified in the ovary in most cases of ovarian hyperstimulation caused by FSHsecreting gonadotroph cell adenoma. 10,11 Therefore, regression of the ovarian hyperstimulation can be achieved by resolving the inappropriate FSH secretion in such cases.…”

“…To determine sure nature of pituitary tumour, other pituitary hormonal assays were done -Serum ACTH -38 pg/ml (0-46), Serum cortisol -1.3 mcg/ml (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16). It confirmed the nature of tumour as 'mixed pituitary adenoma' secreting FSH and prolactin.…”

Ovarielles Überstimulationssyndrom

“…Da auch die HL familiär auftreten kann, wird eine Vererbung diskutiert. Bislang konnte aber diesbezüglich keine Genvariation nachgewiesen werden im Gegensatz zum spontanen OHSS [9,26]. [22].…”

“…Von 121 untersuchten OHSS-Patientinnen in Erlangen hatten allein 4 (3,3%) Thrombosen der V. jugularis und/ oder subclavia [ [19,20]). b FSHR-Aminosäuresequenz mit Darstellung der wesentlichen Polymorphismen [9,28] schwangerschaft abgelaufenen OHSS gesehen werden kann [7].…”