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When menopause comes too early

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Premature Menopause and metabolic alterations
Gambacciani Marco

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Germline study of AR gene of Indian women with ovarian failure

DGYE-2010-0066.R1[507282]

Singh, Lalji; Rao, Lakshmi; Panda, Bineet; Tosh,

Objective: Present study was designed for carrying out the mutational analysis of the entire Androgen Receptor (AR) gene including two microsatellite (CAG)n, (GGN)n, promoter region in cases of premature ovarian failure (POF) and primary amenorrhea (PA).
Design: Previous reports of AR knockout mice model showed POF phenotype, this draws an attention on the role of AR gene in the etiology of POF for the case control association studies in POF samples (n=133), PA samples (n=63) and control samples (n=200).
Results: We identified six mutations including four novel mutations i.e. c.636G>A,c.1885+9C>A,c.1948A>G,c.1972C>A, and two previously reported mutations i.e. c.639G>A,c.2319-78T>G. Repeat length variation was noted in the two microsatellite regions CAG and GGN, located in the coding region of exon1 at the N-terminal region of the AR gene. The CAG repeat length was homogenously distributed with the same frequency and no association among all cases and controls. The GGN repeat showed a significant association among the SS and SL allele with P=0.0231 and P=0.0476 respectively among the POF/control samples.
Conclusions: Thus AR gene mutations may play a role in the genetic cause of POF. Identification of the underlying genetic alteration of the AR gene is important for a proper diagnosis of POF subjects.

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Serum homocysteine and asymmetric dimethylarginine levels in patients with premature ovarian failure: a prospective controlled study

DGYE-2010-0039.R1 502273 4 pag

Gulhan, Ibrahim (contact); BOZKAYA, Giray; Bilgir, Ferda; KEBAPCILAR, LEVENT; Bilgir, Oktay; Kavrut, Mustecep; Dogan, Erbil

Abstract: Objective: To investigate serum homocysteine and asymmetric dimethylarginine levels (ADMA) in patients with premature ovarian failure (POF).
Study design: A total of 69 women, 32 with POF and 37 apparently healty women were included in the study. Fasting blood samples were drawn to measure serum homocysteine and ADMA levels with ELISA method.
Results: The study and control group had a mean age of 37.3±2.6, 37.5±2.5 years; a mean homocysteine level of 13.54±5.19, 12.71±3.99 µmol/L and a mean ADMA level of 1.32±0.27, 1.26±0.36 µmol/L, respectively. There were no statistically significant differences between the two groups in terms of homocysteine and ADMA levels (with p values of 0.465 and 0.423, respectively). A negative significant correlation was found between estradiol and ADMA (p<0.05)
Conclusion: Homocysteine and ADMA levels did not change in comparison with the control group, which suggests that estrogen deficiency in patients with POF does not have any effect on homocysteine and asymmetric dimethylarginine levels.

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