Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome.
OBJECTIVE
To analyze the FSH receptor gene in women with iatrogenic ovarian hyperstimulation syndrome (OHSS).


METHODS
Clinical and molecular studies.


METHODS
University hospital and private clinic.


METHODS
Twenty-nine women who developed moderate or severe OHSS after ovulation induction for IVF. In addition, 50 fertile normal women were used as controls.


METHODS
Peripheral blood was used for DNA extraction. The exons 4, 7, 9, and 10 of the FSH receptor gene were amplified by polymerase chain reaction (PCR) followed by automatic direct sequencing.


METHODS
Hormonal results and automatic sequencing analysis.


RESULTS
Thirteen patients developed moderate OHSS and 16 patients developed the severe form of the syndrome. Automatic sequencing revealed no activating mutations in all patients studied. We found two known polymorphisms in linkage disequilibrium, Ala307Thr and Ser680Asn, in 79.3% of the patients (44.8% in heterozygous and 34.5% in homozygous state). These polymorphisms were found with similar frequency in the 50 normal fertile women.


CONCLUSIONS
We conclude that the FSH receptor genotype did not play a significant role in the risk of iatrogenic OHSS in this cohort.
d'Alva
Catarina Brasil
CB
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Hospital das Clinicas, Universidade de São Paulo, São Paulo, Brazil.
Serafini
Paulo
P
Motta
Eduardo
E
Kohek
Maria Beatriz da Fonte
MB
Latronico
Ana Claudia
AC
Mendonca
Berenice Bilharinho
BB
D000293:Adolescent; D000328:Adult; D016009:Chi-Square Distribution; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007049:Iatrogenic Disease; D015810:Linkage Disequilibrium / Q000235:genetics; D009154:Mutation; D016017:Odds Ratio; D016471:Ovarian Hyperstimulation Syndrome / Q000235:genetics* / Q000378:metabolism*; D010062:Ovulation Induction / Q000379:methods; D011962:Receptors, FSH / Q000235:genetics* / Q000378:metabolism*; D012189:Retrospective Studies
D011962:Receptors, FSH