ACTA ENDOCRINOLOGICA (BUC)

Objectives. The purpose of this study was to evaluate the association between the follicle-stimulating hormone (FSH) receptor (c.-29G>A) and FSH beta chain (c.- 280G>T) polymorphisms and endometriosis in Romanian women. Material and methods. We performed the polymorphic analysis of the FSH receptor gene and FSH beta chain in 44 patients with endometriosis and 34 controls. Genomic DNA was obtained from peripheral blood and polymorphisms were investigated using restriction fragment length polymorphism analysis (RFLP). Results. There were no significant differences in genotype frequencies of FSH receptor gene between endometriosis patients and controls. For the heterozygous type of the FSH receptor polymorphism (c.-29G>A) we did not find a significant difference in its frequency between patients with minimal/mild and moderate/severe endometriosis (p = 0.136). Also, the FSH beta chain (c.- 280G> T) polymorphism frequency was not significantly associated with the severity of endometriosis (p = 0.966). Conclusions. FSH receptor and FSH beta chain polymorphisms do not seem to influence the severity of endometriosis, but they could be correlated with female infertility (primary or secondary), therefore further studies are required to debate this topic.

Background. Clomiphene citrate (CC) is a safe and widely available first-line ovulation induction drug in women with polycystic ovary syndrome (PCOS). Obesity may trigger the syndrome development in the presence of genetic predisposition or independent causal factor by inducing low insulin sensitivity. Objectives. The aim of this study was to compare the serum AMH levels in obese women with PCOS and obese women with ovulatory cycles, and to assess the role of AMH as a predictor of ovulation induction in obese patients with PCOS by CC as compared to follicle-stimulating hormone (FSH). Subjects and methods. Fifty-six obese infertile women with PCOS with a BMI greater than 30kg/m2 were compared with a control group of 30 obese women with normal ovulation. After ovulation induction treatment with CC, the PCOS group was further subdivided in responders and nonresponders. AMH level was assessed as an ovulation induction predictor using area under the curve (AUC) analysis, logistic regression and statistical correlation. Results. Serum AMH level was significantly higher in women with PCOS than in the controls. There were no significant differences in age, duration of infertility, weight, height, LH, and FSH, but significant differences in AMH level (p < 0.01), endometrial thickness (p < 0.01) and progesterone level (p < 0.01) between the patients responding and non-responding to treatment. Endometrial thickness (AUC = 0.932) and progesterone level (AUC = 0.732) were of predictive value for treatment response. A cut-off level of 1.92 ng/mL for AMH showed a good discriminative power for the positive response to treatment (AUC value = 0.819, p< 0.0001). Conclusion. AMH measurement could be useful in predicting ovarian response to clomiphene citrate therapy in obese anovulatory women with PCOS.

Objectives. The objective of this study was to assess the impact of endometriosis on the quality of life. Patients and methods. Study group of 205 women, aged between 18-45 years old, hospitalized in the “Cuza-Voda” Hospital of Iasi, between 2013-2015. We used the Fertility Problem Inventory, the Endometriosis Health Profile and the Beck Depression Inventory. Results. We first realized a descriptive analyses of patients’ health related quality of life - 60% of women reported higher infertility distress associated with relationship issues caused by difficulties to conceive. The descriptive analysis over the quality of life in patients with endometriosis suggests that the high level of stress related factors, are: the loss over the control of the symptoms, dyspareunia and altered emotional status. Regarding the sexual aspect of life, almost a quarter of the women complained about an altered sexual status, due to both fear of failing in conceiving and dyspareunia caused by the endometriosis. The descriptive analysis over the infertility related stress suggests that the factors associated with a high level of stress are: sadness, pessimism, feeling of failure, irritability, lack of confidence, self-hatred and fatigue. Conclusions. Patients with endometriosis are dealing daily with a large spectrum of symptoms, including pain, dyspareunia, emotional instability and high levels of stress, which have a negative impact upon the quality of life, by lowering it on different levels. Also, within the present study we showed a significant presence of high infertility stress in patients of all ages that lead to depression and social anxiety.

We present the case of a 28 year old pregnant primiparous woman, suspected of primary hyperparathyroidism due to hypercalcemia discovered by routine calcium assessment at 30 weeks of gestation. Diagnosis was strongly suggested by elevated serum calcium (15.2 mg/dL, normal range: 8.4-10.3 mg/dL), low serum phosphorus (0.55 mg/dL, normal range: 2.5-5 mg/dL) and increased urinary hydroxyproline excretion (118 mg/24h, normal range: 10- 40 mg/24h), suggesting high bone turnover and confirmed by coexistence of high levels of parathyroid hormone (PTH, 145 pg/mL, normal range 10-65 pg/mL). Neck ultrasound identified a solid nodule of 33x58x20.5 mm situated behind the inferior pole of a normal thyroid left lobe, suggestive for a solid parathyroid tumour located within the left inferior parathyroid gland. Medical treatment with furosemide and hydration decreased serum calcium level but failed to normalize it. After a 3 day preparation for lung maturation with dexamethasone (16 mg per day), successful adenomectomy was performed under local anaesthesia, without major intraoperative or postoperative events. The few uterine contractions were easily managed with papaverine and progesterone. Calcium levels immediately returned to normal after surgery. Our patient delivered a healthy newborn at 40 weeks by caesarean section. A DXA BMD assay performed after one year showed significant bone loss of the mother at radius level (T score of - 2.6).