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THE FREQUENCY OF PREMUTATION IN FMR1 GENE IN WOMEN WITH PREMATURE OVARIAN FAILURE
8th European Congress on Menopause (EMAS) / Maturitas 63, Supplement 1 (2009) S1–S136
270 ROLE OF ACYLATED GHRELIN AND LEPTIN IN PUBERTY AND REPRODUCTIVE FUNCTION OF HOMOZYGOTE BETA-THALASSEMIC PATIENTS G.-R. Moshtaghi-Kashanian. Kerman University of Medical Sciences, Biochemistry Dept., Medical School, Kerman, Iran, Islamic Republic of Ojectives and method: Recently published animals studies consider leptin and ghrelin as hormones that play role in the puberty and fertility. To determine function of these hormones in the maturity and fertility of thalassemic patients who are known cases of delay in puberty and fertility, circulating level of leptin, ghrelin and some of reproductive hormones were determined for 98 (59 male and 38 female) beta-thalassemic patients (18-23 years old) and the results were compared with corresponding values obtained for healthy matched control (n=50, 27 male and 23 female). Results: Beside lower BMI, all the hormones evaluated for the patients were significantly lower than control groups (P<0.001). Furthermore, leptin/ghrelin ratio of female patients was less than corresponding values obtained for the control group (P<0.0001). Finally, significant and negative correlations (p<0.05) were detected between circulating levels of acylated-ghrelin and LH, FSH, estradiol, or testosterone of male patients. Conclusions: In conclusion, inadequate production of leptin and ghrelin could change the harmony of reproductive hormones in beta-thalassemic patients that affected menstruation cycle of female and pubertal timing of male patients. Keywords: Acylated-ghrelin, Leptin, puberty, fertility, reproductive hormones, and beta-thalassemia.
271 PREGNANCY OUTCOME AT AGE 45 AND OLDER O. Sanz 1 , J. Zabaleta 2 , S. Aranda 1 , N. Lamberto 1 . 1 Hospital Virgen del Camino, Gynecology, Pamplona, Spain; 2 Hospital Virgen del Camino, Obstetrics, Pamplona, Spain Objectives: Our purpose was to examine pregnancy and perinatal outcomes among women age 45 or older. Methods: Between January 2002 and December 2007, we performed a retrospective cohort study. Maternal and newborn records of singleton pregnancy in women aged 45 and older (study group=46) were compared with pregnancies of women aged 25-40 (control group = 31753) delivered at the same period. Results: The study group were more likely to develop obesity, gestational diabetes and chronic and pregnancy induced hypertension. Women aged 45 and older were also substantially more likely to have preterm labour and caesarean births. The older women did not differ in neonatal outcomes as low birth weight and perinatal mortality. Conclusions: It is concluded that women 45 years and older had higher risk of antepartum and intrapartum complications than younger women, but these risk, for the most part, are manegable in the context of modern obstetrics. Although maternal morbidity was increased in the older women, the overall neonatal outcome did not appear to be affected. Keywords: Pregnancy, older than 45, maternal morbidity, perinatal morbidity.
272 THE FREQUENCY OF PREMUTATION IN FMR1 GENE IN WOMEN WITH PREMATURE OVARIAN FAILURE K. Szlendak-Sauer 1 , M. Szpotanska 1 , S. Radowicki 1 , M. Rajkiewicz 2 , J. Zaremba 2 . 1 Warsaw Medical University, Department of Gynaecological Endocrinology, Warsaw, Poland; 2 Institute of Psychiatry and Neurology in Warsaw, Genetics Laboratory, Warsaw, Poland Objectives: The aim of the study was to estimate the frequency of premutation in the FMR1 gene and abnormal karyotype in women with Premature Ovarian Failure (POF). Material: 28 women aged under 40 years hospitalized in Gynecological Endocrinology Department of Warsaw Medical University in Poland due to secondary amenorrhoea and climacteric complaints, with menopausal serum level gonadotropins.
S71
Methods: Cytogenetic studies and molecular analysis carried out to search for the premutation in FMR1 gene in Genetics Laboratory in Institute of Psychiatry and Neurology in Warsaw. Results: In the study group cytogenetic analysis revealed balanced X; autosomy translocation: 46,XX t(X;5) (p13.1;q22.3) in 1 (3,5%) patients. We noted premutation in FMR1 gene in 2 (7,1%) diagnosed women. Conclusions: The frequency of premutation in FMR1 gene was 7,1% of patients with POF. It is appropriate to make the chromosomal studies and FMR1 gene premutation testing in women with POF. Keywords: POF, FMR 1 gene premutation, karyotype.
HRT
273 TRANSDERMAL ERT WITH LONG INTERVAL INTERMITTENT PROGESTIN THERAPY MONITORED BY TVS A. Aharoni, A. Agranat, Y. Mamet. Laniado Hospital, Obstetrics and Gynecology, Natanya, Israel Objectives: Lately, there has been a growing tendency to prefer the transdermal route for ERT over the oral one, and to aim towards the lowest possible effective dose. The recent preferences also include lowering the exposure to progestins. Our objective was to devise a treatment modality, based on these principles, that is both safe and applicable to a general gynecological practice. Methods: During the years 2007-2008, 232 women were given transdermal ERT patch in two gynecological clinics. The dose was the lowest that relieved the patients’ vasomotor symptoms, and accordingly 74 women received 25mg patch, 114 50mg, 29 75mg and 15 were on 100mg. They also received an intermittent oral progestin which was administered for 12 days every 3 months, but the interval was changed according to endometrial thickness, determined by regular TVS examinations. For some it was reduced to 3 times a year, twice a year, or none at all, while for others the progestin frequency was increased to every 2 months or even every month. Results: Table 1 shows the number of women in each progestin interval for the 4 different transdermal doses. During this period 33 patients had an endometrial biopsy due to breakthrough bleeding. Only three had complex hyperplasia, and none had atypia or carcinoma. The hyperplasia cases were rescheduled to have shorter intervals between progestins. Conclusions: The administration of transdermal ERT with long interval intermittent progestin monitored by TVS was safe and effective. Keywords: Transdermal ERT, intermittent progestin, TVS.
274 THE PROGESTIN MAY MODIFY THE EFFECT OF LOW-DOSE HORMONE THERAPY ON MAMMOGRAPHIC BREAST DENSITY C. Panoulis 1 , I. Lambrinoudaki 1 , A. Vourtsi 2 , A. Augoulea 1 , G. Kaparos 3, L. Aravantinos 1 , V. Velissaris 1, G. Christodoulakos 1 , E. Dimitraki 1 , G. Creatsas 1 . 1 University of Athens, Aretaieion Hospital, 2nd Department of Obstetrics and Gynecology, Athens, Greece; 2 Diagnostic and Therapeutic Center “Ygeia”, Department of Radiology, Athens, Greece; 3 Hormonal and Biochemical Laboratory, University of Athens, Aretaieion Hospital, Athens, Greece Objectives: To evaluate the effect on breast density of two low dose hormone therapy regimens identical in their estrogen component but different in the progestin. Methods: 81 non-hysterectomized postmenopausal women were allocated either to 17-b estradiol 1mg and norethisterone acetate 0,5 mg (E2/NETA, n=43) or to 17b estradiol 1mg and drospirenone 2 mg (E2/DRSP, n=38). Treatment was continuous and lasted 12 months. Main outcomes were the changes in breast density according to Wolfe classification between baseline and 12-month mammograms. Results: Involution of the fibroglandular tissue was not seen in either of the treatment groups. Under E2/NETA breast density increased in 7 women (16.3%). In contrast, only 3 women (7.9%) exhibited a density increase under E2/DRSP.
270 ROLE OF ACYLATED GHRELIN AND LEPTIN IN PUBERTY AND REPRODUCTIVE FUNCTION OF HOMOZYGOTE BETA-THALASSEMIC PATIENTS G.-R. Moshtaghi-Kashanian. Kerman University of Medical Sciences, Biochemistry Dept., Medical School, Kerman, Iran, Islamic Republic of Ojectives and method: Recently published animals studies consider leptin and ghrelin as hormones that play role in the puberty and fertility. To determine function of these hormones in the maturity and fertility of thalassemic patients who are known cases of delay in puberty and fertility, circulating level of leptin, ghrelin and some of reproductive hormones were determined for 98 (59 male and 38 female) beta-thalassemic patients (18-23 years old) and the results were compared with corresponding values obtained for healthy matched control (n=50, 27 male and 23 female). Results: Beside lower BMI, all the hormones evaluated for the patients were significantly lower than control groups (P<0.001). Furthermore, leptin/ghrelin ratio of female patients was less than corresponding values obtained for the control group (P<0.0001). Finally, significant and negative correlations (p<0.05) were detected between circulating levels of acylated-ghrelin and LH, FSH, estradiol, or testosterone of male patients. Conclusions: In conclusion, inadequate production of leptin and ghrelin could change the harmony of reproductive hormones in beta-thalassemic patients that affected menstruation cycle of female and pubertal timing of male patients. Keywords: Acylated-ghrelin, Leptin, puberty, fertility, reproductive hormones, and beta-thalassemia.
271 PREGNANCY OUTCOME AT AGE 45 AND OLDER O. Sanz 1 , J. Zabaleta 2 , S. Aranda 1 , N. Lamberto 1 . 1 Hospital Virgen del Camino, Gynecology, Pamplona, Spain; 2 Hospital Virgen del Camino, Obstetrics, Pamplona, Spain Objectives: Our purpose was to examine pregnancy and perinatal outcomes among women age 45 or older. Methods: Between January 2002 and December 2007, we performed a retrospective cohort study. Maternal and newborn records of singleton pregnancy in women aged 45 and older (study group=46) were compared with pregnancies of women aged 25-40 (control group = 31753) delivered at the same period. Results: The study group were more likely to develop obesity, gestational diabetes and chronic and pregnancy induced hypertension. Women aged 45 and older were also substantially more likely to have preterm labour and caesarean births. The older women did not differ in neonatal outcomes as low birth weight and perinatal mortality. Conclusions: It is concluded that women 45 years and older had higher risk of antepartum and intrapartum complications than younger women, but these risk, for the most part, are manegable in the context of modern obstetrics. Although maternal morbidity was increased in the older women, the overall neonatal outcome did not appear to be affected. Keywords: Pregnancy, older than 45, maternal morbidity, perinatal morbidity.
272 THE FREQUENCY OF PREMUTATION IN FMR1 GENE IN WOMEN WITH PREMATURE OVARIAN FAILURE K. Szlendak-Sauer 1 , M. Szpotanska 1 , S. Radowicki 1 , M. Rajkiewicz 2 , J. Zaremba 2 . 1 Warsaw Medical University, Department of Gynaecological Endocrinology, Warsaw, Poland; 2 Institute of Psychiatry and Neurology in Warsaw, Genetics Laboratory, Warsaw, Poland Objectives: The aim of the study was to estimate the frequency of premutation in the FMR1 gene and abnormal karyotype in women with Premature Ovarian Failure (POF). Material: 28 women aged under 40 years hospitalized in Gynecological Endocrinology Department of Warsaw Medical University in Poland due to secondary amenorrhoea and climacteric complaints, with menopausal serum level gonadotropins.
S71
Methods: Cytogenetic studies and molecular analysis carried out to search for the premutation in FMR1 gene in Genetics Laboratory in Institute of Psychiatry and Neurology in Warsaw. Results: In the study group cytogenetic analysis revealed balanced X; autosomy translocation: 46,XX t(X;5) (p13.1;q22.3) in 1 (3,5%) patients. We noted premutation in FMR1 gene in 2 (7,1%) diagnosed women. Conclusions: The frequency of premutation in FMR1 gene was 7,1% of patients with POF. It is appropriate to make the chromosomal studies and FMR1 gene premutation testing in women with POF. Keywords: POF, FMR 1 gene premutation, karyotype.
HRT
273 TRANSDERMAL ERT WITH LONG INTERVAL INTERMITTENT PROGESTIN THERAPY MONITORED BY TVS A. Aharoni, A. Agranat, Y. Mamet. Laniado Hospital, Obstetrics and Gynecology, Natanya, Israel Objectives: Lately, there has been a growing tendency to prefer the transdermal route for ERT over the oral one, and to aim towards the lowest possible effective dose. The recent preferences also include lowering the exposure to progestins. Our objective was to devise a treatment modality, based on these principles, that is both safe and applicable to a general gynecological practice. Methods: During the years 2007-2008, 232 women were given transdermal ERT patch in two gynecological clinics. The dose was the lowest that relieved the patients’ vasomotor symptoms, and accordingly 74 women received 25mg patch, 114 50mg, 29 75mg and 15 were on 100mg. They also received an intermittent oral progestin which was administered for 12 days every 3 months, but the interval was changed according to endometrial thickness, determined by regular TVS examinations. For some it was reduced to 3 times a year, twice a year, or none at all, while for others the progestin frequency was increased to every 2 months or even every month. Results: Table 1 shows the number of women in each progestin interval for the 4 different transdermal doses. During this period 33 patients had an endometrial biopsy due to breakthrough bleeding. Only three had complex hyperplasia, and none had atypia or carcinoma. The hyperplasia cases were rescheduled to have shorter intervals between progestins. Conclusions: The administration of transdermal ERT with long interval intermittent progestin monitored by TVS was safe and effective. Keywords: Transdermal ERT, intermittent progestin, TVS.
274 THE PROGESTIN MAY MODIFY THE EFFECT OF LOW-DOSE HORMONE THERAPY ON MAMMOGRAPHIC BREAST DENSITY C. Panoulis 1 , I. Lambrinoudaki 1 , A. Vourtsi 2 , A. Augoulea 1 , G. Kaparos 3, L. Aravantinos 1 , V. Velissaris 1, G. Christodoulakos 1 , E. Dimitraki 1 , G. Creatsas 1 . 1 University of Athens, Aretaieion Hospital, 2nd Department of Obstetrics and Gynecology, Athens, Greece; 2 Diagnostic and Therapeutic Center “Ygeia”, Department of Radiology, Athens, Greece; 3 Hormonal and Biochemical Laboratory, University of Athens, Aretaieion Hospital, Athens, Greece Objectives: To evaluate the effect on breast density of two low dose hormone therapy regimens identical in their estrogen component but different in the progestin. Methods: 81 non-hysterectomized postmenopausal women were allocated either to 17-b estradiol 1mg and norethisterone acetate 0,5 mg (E2/NETA, n=43) or to 17b estradiol 1mg and drospirenone 2 mg (E2/DRSP, n=38). Treatment was continuous and lasted 12 months. Main outcomes were the changes in breast density according to Wolfe classification between baseline and 12-month mammograms. Results: Involution of the fibroglandular tissue was not seen in either of the treatment groups. Under E2/NETA breast density increased in 7 women (16.3%). In contrast, only 3 women (7.9%) exhibited a density increase under E2/DRSP.