Author/Editor     Ferk, Polonca
Title     Povezava med mikrosatelitnim polimorfizmom (TTTTA)n v genu CYP11A in razvojem sindroma hiperstimulacije jajčnikov
Type     monografija
Place     Ljubljana
Publisher     Medicinska fakulteta
Publication year     2004
Volume     str. 39
Language     slo
Abstract     Background Ovarian hyperstimulation syndrome (OHSS) is one of the most serious iatrogenic complications during controlled ovarian hyperstimulation (COH). The pathogenesis of OHSS has not bcen completely elucidated. Therefore, effective prognostic criteria for the syndrome are still lacking. The aim of the present study was to contribute to the knowledge of pathogenetic mechanisms of OhSS, from a genetic point of view, and finally, to establish a proper prognostic criterion for development of severe OHSS. Our research was based on the observation that women with biochemical marker-based diagnosis of polycystic ovary syndrome (BM-PCOS) as well as those only with ultrasonic evidenee of polycystic ovaries (PCO), are at higher risk of OHSS. Moreover, the clinical and bioehemical picture of OHSS are similar in both groups of patients. Women with BM-PCOS are mainly characterized by disturbances in androgen biosynthesis, before as well as during COH. On the other hand, women only with ultrasonic evidence of PCO, have normal androgen status belore COH; however, their androgen biochemical picture is changed during COH. We proposed that androgen pathogenetic mechanism of OHSS could be related to a certain genetic predisposition. We focused on investigating a possible association of the (TTTTA)n microsatellite polymorphism in the promoter of the CYP11A gene with OHSS during COH. Namely, the CYP11A gene participates in the first, rate-limiting step in steroidogenesis, and it is one of the most promising candidate genes that could affect androgen biosynthesis. Furthermore, the (TTTTA)n microsatellite polymorphism could regulate transcriptional activity of the CYP11A gene. (Abstract truncated at 2000 characters).
Descriptors     POLYCYSTIC OVARY SYNDROME
OVARIAN HYPERSTIMULATION SYNDROME
POLYMORPHISM (GENETICS)
MICROSATELLITE REPEATS
CHOLESTEROL MONOOXYGENASE (SIDE-CHAIN-CLEAVING)
POLYMERASE CHAIN REACTION
ALLELES
GENOTYPE
PROMOTER REGIONS (GENETICS)