Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 21474127
Gene Name CYP19A1
Condition Endometriosis
Association Associated
Population size 117
Population details 117 (35 controls (no ovarian factor, NOF), 28 poor responders (PR), 32 patients with endometriosis (EM), and 22 patients with polycystic ovary syndrome (PCOS))
Sex Female
Infertility type Female infertility
Associated genes FSHR, PAPP, and Cyp19A1
Other associated phenotypes Endometriosis, Poor ovarian response
Patients with endometriosis and patients with poor ovarian reserve have abnormal follicle-stimulating hormone receptor signaling pathways.

Fertil Steril. 2011 Jun;95(7):2373-8. doi: 10.1016/j.fertnstert.2011.03.030. Epub

Gonzalez-Fernandez, Rebeca| Pena, Oscar| Hernandez, Jairo| Martin-Vasallo, Pablo| Palumbo, Angela| Avila, Julio

Departamento de Bioquimica y Biologia Molecular, Universidad de la Laguna, Tenerife, Spain.

OBJECTIVE: To study the integrity of the FSH receptor (FSHR) signaling pathway in granulosa-lutein cells at the time of egg retrieval and its relationship with the infertility diagnosis. DESIGN: In vitro assays. SETTING: University laboratory and private IVF center. PATIENT(S): Patients undergoing IVF: 35 controls (no ovarian factor, NOF), 28 poor responders (PR), 32 patients with endometriosis (EM), and 22 patients with polycystic ovary syndrome (PCOS). INTERVENTION(S): Quantitative reverse transcriptase-polymerase chain reaction (PCR) in granulosa-lutein cells from pooled follicles. MAIN OUTCOME MEASURE(S): Correlation between expression of FSHR and FSH-regulated genes PAPP/Cyp19A1. RESULT(S): Positive correlations among FSHR, PAPP, and Cyp19A1 expression levels are observed in NOF and are lost, with different patterns, in poor responder patients and those with endometriosis. Patients with endometriosis are an heterogeneous group including patients with poor ovarian reserve who behave like other poor responders patients (endometriosis-A) and patients with good response to ovarian stimulation (endometriosis-B) who show a specific alteration of the FSHR signaling pathway. CONCLUSION(S): These preliminary data suggest that the different signaling pathways activated through the FSHR in normal ovaries (NOF) are disrupted in poor responders and in patients with endometriosis. A better knowledge of the molecular origin of these errors may guide clinicians in the choice of personalized ovulation induction protocols for each type of ovarian dysfunction.

Mesh Terms: Adult| Analysis of Variance| Aromatase/genetics| Case-Control Studies| Endometriosis/*complications/genetics/physiopathology| Female| Fertility Agents, Female/administration & dosage| Fertilization in Vitro| Humans| Infertility, Female/etiology/*