ACTA ENDOCRINOLOGICA (BUC)

Objective. Estrogen receptor alpha (ESR1) polymorphisms (XbaI and PvuII) and vitamin D receptor (VDR) polymorphisms (FokI, BsmI, ApaI and TaqI) are the most frequently studied regarding the correlations with the infertility in males, but the results are controversial. The purpose of this study is to evaluate possible correlations between hormonal markers, VDR and ESR1 genotypes and semen analysis, in order to bring new data for a better understanding of male infertility. Subjects and Methods. 42 infertile men and 28 controls were enrolled. The polymorphisms of VDR gene (ApaI, TaqI, BsmI and FokI) and ESR1 (XbaI and PvuII) were performed by PCR-RFLP, along with hormonal markers. Results. An important correlation between PvuII polymorphism and infertility status was revealed. A significant difference between control and infertility group regarding the presence of BsmI (A>G) and ApaI (G>T) polymorphisms was observed in infertile group, prolactin and DHEA were found to correlate significantly statistic with BsmI GG genotype, whereas ApaI AA genotype correlates with prolactin and SHBG levels. Conclusions. By a multivariate analysis, we demonstrated a cumulative effect of some genetic variants in the hormonal status of infertile patients. Therefore, we show that specific genetic variants of ESR1 and VDR genes may jointly influence human spermatogenesis.

Introduction. Vitamin D (VD) levels were correlated with different health conditions, including reproductive disorders in males. Vitamin D action is mediated through vitamin D receptor (VDR), which acts as a transcription factor. VDR gene promoter is embedded in a GC-rich island. The VDR gene has been shown to have several polymorphisms that affect the receptor function. Aim. To examine the relationship between Cdx- 2 polymorphism (rs17883968), the methylation status of VDR’s promoter and serum levels of 25-hydroxyvitamin D in male infertility. Patients and Methods. A total of 69 infertile men and 37 age-matched controls were enrolled in this study. Vitamin D level assessments were detected using the electrochemiluminescent method. Cdx-2 VDR polymorphism identification was performed by PCR on DNA samples from blood, followed by restriction. Methylation of VDR gene promoter was assessed by qMS-PCR using bisulfite-treated DNA from fresh sperm. Results. Vitamin D levels was found to be significantly decreased in infertile groups compared the controls (p=0.0279). The GG genotype was found in a higher percentage in controls and the AA genotype was higher in infertile group (p=0.0056). Infertile homozygote (GG) and heterozygote (GA) individuals had significantly higher vitamin D levels than AA homozygote. Methylation is higher in individuals with lower vitamin D levels and AA genotype is characterized by higher methylation values. Conclusion. The results provide new insights of Cdx-2 polymorphism is involved in vitamin D deficiency, highlighting the important role of epigenetic modification of vitamin D receptor and male infertility along with the genetic context.

Introduction. Glucocorticoids (GC) are largely used for their anti-inflammatory and immunosuppressive effects. Until recently “local” administration (inhalation, topical, intra-articular, ocular and nasal) was considered devoid of important systemic side effects, but there is no administration form, dosing or treatment duration for which the risk of iatrogenic Cushing’s syndrome (CS) and consequent adrenal insufficiency (AI) can be excluded with certainty. Patients and methods. We present the case of a pregnant woman who developed overt CS with secondary AI in the second trimester of pregnancy. She had low morning plasma cortisol 6.95 nmol/L (normal non-pregnant range 166 – 507) and low ACTH level 1.54 pg/mL (normal range 7.2 – 63.3), suggestive for iatrogenic CS. A thorough anamnesis revealed chronic sinusitis long-term treated with high doses of intranasal betamethasone spray (6 - 10 applications/day, approximately 10 mg betamethasone/week, for 5 months). After decreasing the dose and switching to an alpha-1 adrenergic agonist spray, the adrenal function recovered in a few weeks without manifestations of AI. The patient underwent an uneventful delivery of a normal baby. A review of the literature showed that only a few cases with exogenous CS and consequent AI caused by intranasal GC administration were described, mostly in children, but none during pregnancy. Conclusion. Long-term high doses of intranasal GC may induce iatrogenic CS and should be avoided. Low levels of ACTH and cortisol should prompt a detailed anamnesis looking for various types of glucocorticoid administration.

Context. Minimally invasive parathyroidectomy (MIP) procedure has become a widely accepted alternative to the standard four-gland exploration nowadays. Objective. The aim of this study was to evaluate patients with primary hyperparathyroidism (PHPT), who had been treated with thyroidectomy and bilateral neck exploration (BNE), rather than MIP alone, due to coexisting thyroid nodules and to determine the benefits of simultaneous thyroidectomy and the possible negative outcomes of not performing this additional procedure. Design. There were 185 patients who were operated for PHPT at our clinic from January 2014 to November 2016. Subjects and Methods. 50 patients meet inclusion criteria: have thyroidectomy at the same time of parathyroid surgery, have concordant findings of parathyroid adenoma localization at preoperative MIBI-SPECT and the cervical US and have not had malignancy on fine needle aspiration biopsy (FNAB). Results. The mean age of the patients was 55.3±10.4, and female to male ratio was 7:1. All patients had parathyroidectomy with BNE and thyroidectomy: 11 (22%) patients had micropapillary thyroid cancer (mPTC), 2 (4%) had papillary thyroid cancer (PTC). Conclusion. The results were inconclusive in clearly demonstrating which patients presenting with coexisted thyroid nodules should undergo thyroidectomy, rather than MIP, and which should be monitored for thyroid nodules after MIP. However, we consider that in cases who are not clearly indicated for thyroidectomy, MIP followed by monitoring of thyroid nodules can be the treatment approach.