Simpson-Golabi-Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study.

Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic condition and is inherited in an X-linked recessive manner. The disease is caused by a change in the nucleotide sequence of an X-linked gene encoding glypican 3, a protein belonging to the heparan-sulfate membrane proteoglycan family. SGBS case studies are almost entirely restricted to the pediatric population. Scarce literature describing SGBS course in adults may be due to both the high mortality of SGBS patients in childhood and low rate of SGBS diagnosis in adults. We present a case of a 39-year-old man with an initial diagnosis of acromegaly. Genetic tests revealed a hitherto unreported deletion in the GPC3 gene. SGBS manifestations in our patient included tall stature, dysmorphic features, and central nervous system (CNS) anatomical pathology. MRI of the head visualized abnormalities of median line structures, a feature consistent with SGBS: an unclosed craniopharyngeal canal, a sellar-suprasellar cyst, dysmorphic pituitary gland, and a cyst of the septum pellucidum. Moreover, cardiomyopathy complicated by life-threatening paroxysmal ventricular tachycardia was diagnosed. Although various cardiac anomalies are often found in SGBS, their pathogenesis is unclear and may be multifactorial. We believe that the presented case contributes to a better understanding of SGBS and may help clinicians in introducing prophylaxis and treatment for its comorbidities.

Dilemmas concerning the course of pregnancy in patients with anorexia nervosa considering hormonal and somatic parameters.

Mental anorexia nervosa is a rare, potentially severe, chronic, and recurrent mental disorder that occurs more often in women than in men, especially during the childbearing years. The disorder is associated with an increased risk of mortality, mainly related to the physical consequences of severe malnutrition and suicide. Malnutrition of the body can cause serious hormonal and somatic problems. Despite significant hormonal disturbances that reduce fertility, a woman with anorexia can become pregnant. A new phenomenon now seen with increasing frequency is pregorexia, an eating disorder associated with pregnancy. It involves the use of dietary restrictions to avoid excessive weight gain during pregnancy. Pregnancy changes the hormonal economy mainly due to the development of the placenta, which secretes many hormones, not just sex hormones. Mental anorexia poses a significant risk to both mother and child if not diagnosed and treated properly. Treatment of anorexia involves simultaneous somatic and psychological treatment. During pregnancy, additional care should be taken to create an optimal environment for the developing foetus. Unfortunately, there is still a lack of research providing guidance in this area. Available studies are mainly case reports or reports focusing on specific clinical situations. It is worth noting that no study to date has attempted a comprehensive assessment of endocrine disruption in pregnant women with anorexia. Recognising the existing knowledge gap on endocrine disorders in pregnant women with anorexia nervosa, a systematic review of the literature was conducted.

The Role of Glucose, Insulin and Body Fat in Assessment of Bone Mineral Density and Trabecular Bone Score in Women with Functional Hypothalamic Amenorrhea.

Background: For years, bone mineral density (BMD) has played a key role in assessing bone health, but the trabecular bone score (TBS) is emerging as an equivalent measure. However, BMD alone may not fully measure bone quality or predict osteoporosis risk. To evaluate the usefulness of TBS and BMD in estimating the risk of bone fracture in young women with FHA, this study examined the association between metabolic parameters and bone quality, which was measured using TBS and BMD. Methods: We analyzed the association of metabolic factors with tests assessing bone quality-TBS and BMD. Patients were checked for BMI, measured body fat, and determined serum glucose levels and insulin levels in a 75g glucose load test. Spearman correlation analysis was used. Results: Significant positive correlations were found between BMD and age (p < 0.001) and body fat (p < 0.001), as well as between TBS values and BMI (p < 0.001) and TBS and percent body fat (p < 0.001). Of the variables analyzed in the multivariate analysis, the only independent predictor of higher bone mineral density in the lumbar spine was found to be higher values of the trabecular bone index in the same segment (p < 0.001). Conclusions: The use of TBS provides a simple tool for estimating the risk of bone damage. Ultimately, early screening, diagnosis and treatment of patients with FHA may help prevent osteoporosis and fragility fractures in the long term.

Are Young People with Turner Syndrome Who Have Undergone Treatment with Growth and Sex Hormones at Higher Risk of Metabolic Syndrome and Its Complications?

INTRODUCTION: Metabolic syndrome (MetS), characterized by visceral obesity, glucose abnormalities, hypertension and dyslipidemia, poses a significant risk of diabetes and cardiovascular disease. Turner syndrome (TS), resulting from X chromosome abnormalities, carries health complications. Despite growing evidence of an increased risk of MetS in women with TS, its prevalence and risk factors remain under investigation. These considerations are further complicated by the varying timing and dosages of treatment with growth hormone and sex hormones. METHODS: We conducted a cross-sectional study comparing 44 individuals with TS with 52 age-matched control subjects. Growth hormone treatment in the study group was administered for varying lengths of time, depending on clinical response. We collected anthropometric, metabolic, endocrine and body composition data. Statistical analyses included logistic regression. RESULTS: Baseline characteristics, including age, BMI and height, were comparable between the TS and control groups. Hormonally, individuals with TS showed lower levels of testosterone, DHEA-S, and cortisol, as well as elevated FSH. Lipid profiles indicated an atherogenic profile, and the body composition analysis showed increased visceral adipose tissue in those with TS. Other metabolic abnormalities were common in individuals with TS too, including hypertension and impaired fasting glucose levels. The risk of MetS components was assessed in subgroups according to karyotypes: monosomy 45X0 vs. other mosaic karyotypes. Logistic regression analysis showed a significant association between increased visceral adipose tissue in subjects with TS. Those with metabolic complications tended to have less muscle strength compared to those without these complications in both the study and control groups. CONCLUSIONS: This study highlights the unique metabolic and cardiovascular risk profile of individuals with TS, characterized by atherogenic lipids, higher levels of visceral adipose tissue and increased metabolic abnormalities. These findings underscore the importance of monitoring metabolic health in individuals with TS, regardless of age, BMI or karyotype, and suggest the potential benefits of lifestyle modification, building more muscle strength, and weight control strategies. Further research is needed to better understand and address the metabolic challenges faced by women with TS.

Evaluation of Trabecular Bone Microarchitecture and Bone Mineral Density in Young Women, Including Selected Hormonal Parameters.

The absence of non-invasive methods for assessing bone material and structural changes is a significant diagnostic challenge. Dual-energy X-ray absorptiometry (DXA) bone mineral density (BMD) testing is the gold standard for osteoporosis diagnosis. BMD and the trabecular bone score (TBS) have facilitated targeted osteoporosis prevention and treatment in clinical settings. The findings from this study indicate that BMD modulation in young women is influenced by various hormones, potentially compromising the diagnostic precision of BMD for subclinical bone demineralization. A total of 205 women aged 19 to 37 underwent anthropometric measurements and hormonal tests. BMD was determined using DXA, and TBS values were computed from the lumbar spine L1-L4 segment. The multivariate analysis findings suggest that BMD might not be determined by hormones. The relationship between TBS and TSH was statistically significant in the univariate analysis, which indicates the efficacy of further studies to determine the link between TBS and specific hormones. Analyzing the strength of the correlation between TBS and hormones in the univariate analysis shows which factors are worth considering in further analyses. This makes it possible to create better techniques that will help identify young women who are at a higher risk of developing osteoporosis.

[Legal aspects in pediatric and adolescent gynecology]. / Wybrane aspekty prawne w ginekologii wieku rozwojowego.

Childhood and adolescent gynecology is an emerging specialty at the intersection of pediatrics, pediatric endocrinology gynecology pediatric surgery dermatology psychiatry, public health medicine and genetics, and in fact addresses many legal issues. Poland lacks a uniform standing of medical and legal environments on how to deal with a juvenile patient who has become sexually active and seeks the advice of a gynecologist, gynecologic examination and requests to be prescribed contraceptives. It needs to be taken into account that in Poland a parent or a legal guardian has legal guardianship, custody and control of a child until 18 years of age but once a juvenile reaches the chronological age of 16 years, and is given full rights of a patient, both parties need to consent to medical care. According to the Act on Health Care Institutions, a patient has the right to self-determination, respect for physical and mental integrity as well as privacy whereas, after the patient reaches the age of 16 years, the legal representative becomes in practice a mere co-decision maker to have medical services performed. Therefore, information obtained from a juvenile patient during physical test and medical interview does not have to be revealed to a legal representative, if the patient requests confidentiality and on condition it does not affect patient health and/or the planned medical procedures (e.g. the need to perform an operation). Knowledge about procedures for juvenile patients shall enable doctors to make conscious choices about conduct and care or in most cases, only advice, without the risk of breaching the Polish law.

Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea.

Swyer syndrome is a special form of DSD (disorders of sex development), so-called pure gonadal dysgenesis with a karyotype 46, XY and a female phenotype. One of the most important problems in patients with DSD is the risk of gonadal tumors. We present a case of a 26-year-old patient with Swyer syndrome. The patient had primary amenorrhea and no puberty characteristics. In ultrasound imaging in the vicinity of the uterus, there were two homogeneous structures. A genetic diagnosis was also performed, which showed karyotype 46, XY. The patient underwent a bilateral gonadectomy. Histopathological examination revealed the presence of dysgerminoma in both dysgenetic gonads. The follow-up of five years now did not show any changes suspected of invasion. We concluded that the primary amenorrhea, along with the absence of development of sexual characteristics, should prompt an expanded diagnosis for disorders of sex development. Gonadal dysgerminoma should be suspected even in the absence of tumor features on ultrasound and blood laboratory tests. Early prophylactic gonadectomy could protect patients from developing tumors in dysgenetic gonads.

Obstructed Hemivagina with Ipsilateral Renal Agenesis: A Challenging Case Report and a Management Flow Chart.

We present here a case of complex uterine anomaly-obstructed hemivagina with ipsilateral renal agenesis (OHVIRA), also known as Herlyn-Werner-Wunderlich syndrome in a 13-year-old girl with a history of recurrent urinary tract infections (rUTI). In the emergency room, a trans-abdominal sonography revealed an ovarian cyst and renal agenesis, without any suspicion of vaginal obstruction. This led to a delay in the diagnosis of this uncommon anomaly. Finally, MRI findings confirmed the presence of OHVIRA syndrome. As the congenital anomalies of the kidney and urinary tract (CAKUT) are present in almost one third of cases associated with genital malformations, urologists should carefully screen patients with rUTI. The patient underwent simultaneous laparoscopy and vaginoscopy, which was in our opinion the most appropriate therapeutic decision. In this article, we are also going to discuss the role of laparoscopy in the management of OHVIRA syndrome, as well as other surgical techniques described in the literature.

Metabolic and Dietary Factors in Acne Vulgaris and Evaluation of the Acne Vulgaris Treatment with Oral Contraceptive-Based Therapies in Young Adult Women.

The etiopathogenesis of acne is complex, as several endo- and exogenous factors that affect the sebaceous-hair unit are involved in the development of acne lesions. The main aim of the study was to evaluate selected metabolic parameters before treatment. Another goal of the study was to determine the correlation between selected metabolic and dietary parameters and the severity of acne before treatment. The third objective was to assess the severity of acne before and after treatment, considering the type of treatment used. The final objective was to assess the relationship between the difference in acne severity before and after treatment, considering the type of treatment used and factors of dairy or sweets intake. 168 women participated in the study. The patients belonged to two groups: the study group (99 patients with acne vulgaris) and the control group (69 patients without skin lesions). The study group was divided into subgroups according to the treatment used: contraceptive preparation, contraceptive preparation and cyproterone acetate, and contraceptive preparation and isotretinoin preparation. We found that LDL levels and consumption of sweets correlated with acne severity. The mainstay of acne treatment is contraceptive treatment (ethinylestradiol and drospirenone). The effectiveness of the three contraceptive-based treatments was confirmed by observing the severity of acne. There were no significant correlations between the difference in acne severity before and after treatment with the three treatments and factors of dairy or sweet consumption.

Associations of Hormonal and Metabolic Parameters with Bone Mineralization in Young Adult Females.

Osteoporosis is characterized by impaired bone mineralization and microarchitecture. An important protective factor is a high peak bone mass (PBM), attained in the second and third decade of life. The aim of the study was to evaluate the effect of hormonal and metabolic parameters on bone mineralization in young adult female patients. A total of 111 participants qualified for the study. Bone mineral density of the lumbar spine (L1-L4) and whole skeleton was measured using dual-energy X-ray absorptiometry (DXA). Hormonal parameters were determined: the concentrations of androstendione, dihydroepiandrosterone sulphate, testosterone, sex hormone binding protein, 17-OH-progesterone, folliculotropic hormone, estradiol, thyrotropic hormone, free thyroxine and cortisol. Metabolic parameters were also examined. The study showed a statistically significant correlation between bone mineral density and estradiol concentration and a negative relationship between cortisol concentration and the bone mineral density (BMD) Z-score of the lumbar spine. Sclerostin measurements taken during this study were not related to bone mineral density. It has been shown that the concentration of the hormones tested, even within the reference range, may affect bone mineralization. We suggest observing the follow-up of the menstrual cycles, as well as analyzing the results of test patients in an annual examination system. However, each clinical case should be considered individually. The sclerostin test is currently not useful in the clinical evaluation of bone mineralization in young adult women.

Influence of Vitamin D on the Incidence of Metabolic Syndrome and Hormonal Balance in Patients with Polycystic Ovary Syndrome.

Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder that affects 8-13% of women of reproductive age. It is one of the most common causes of infertility and is associated with hyperandrogenism in the form of hirsutism and acne, non-ovulatory cycles, and characteristic ovarian morphology. The available research on serum vitamin D deficiency in patients with PCOS and the appropriateness of vitamin D supplementation in this group of women is inconclusive, so we decided to investigate the influence of vitamin D on the incidence of metabolic syndrome and hormonal balance in patients with polycystic ovary syndrome. The study comprised 120 women aged between 18 and 42 years, who were divided into two groups: a group with diagnosed polycystic ovary syndrome (PCOS) and a group of regularly menstruating women without features of androgenisation, in whom polycystic ovary syndrome was excluded. Each patient underwent a history and physical examination, including a gynecological examination, anthropometric measurements were taken, including height, weight, waist, and hip circumference, and blood pressure was measured using the Korotkow method. In the female patients, the following parameters were also determined from the blood: follicle-stimulating hormone (FSH), luteinizing hormone (LH), oestradiol, TSH, ft4, prolactin (PRL), total testosterone, DHEASO4, 17-hydroxyprogesterone (17-OHP), sex-hormone-binding globulin (SHBG), androstendione, 25(OH) vitamin D3 metabolite. The majority of the patients with polycystic ovary syndrome were found to have deficient or suboptimal serum vitamin D levels, and the effects of vitamin D on the SHBG levels and free-androgen indices in these patients was examined. The effects of vitamin D on the incidence of metabolic syndrome and BMI, waist-to-hip ratio, waist circumference, and blood pressure in patients with polycystic ovary syndrome were also found.

The Interplay between Muscular Grip Strength and Bone Mineral Density with Consideration of Metabolic and Endocrine Parameters in Individuals with Turner Syndrome.

INTRODUCTION: Patients with Turner syndrome (TS) often face skeletal and muscular challenges, including reduced bone mineral density (BMD) and muscle weakness. This comprehensive study sheds light on the complex interplay between muscle strength, BMD, and metabolic and endocrine parameters in TS and healthy subjects. METHODS: A cross-sectional study involving 42 TS patients and 70 healthy women was conducted. All patients had their BMD determined in the L1-L4 lumbar spine section and in the whole skeleton as well as the parameters of body fat mass (BF), and visceral fat mass (VF) were also determined. The maximum gripping force was measured with a hydraulic manual dynamometer. In addition, a number of blood hormonal and metabolic parameters were determined. RESULTS: In the TS group, hand grip strength correlated positively with triglyceride levels but not with BMD. Healthy individuals had a positive link between hand grip strength and BMD, while patients with TS did not show a significant association between the two. A trend suggested that longer recombinant human growth hormone (rhGH) therapy might improve BMD in the L1-L4 region. Multiple linear regression analysis revealed that muscle strength assessment may be a potential exponent of reduced BMD, and also used clinically in young adult women but not in individuals with TS. CONCLUSIONS: The relationship between BMD variables and hand grip might differ between the two groups, potentially indicating distinct musculoskeletal characteristics in TS patients. Longer rhGH therapy in TS patients may have a positive effect on BMD in the L1-L4 region. Understanding the intricate relationships between these factors is important for optimizing clinical management strategies and improving the quality of life for TS patients.

Influence of Muscle Mass and Strength on Bone Mineralisation with Consideration of Sclerostin Concentration.

Osteoporosis is a disease characterised by a reduction in bone strength due to increased porosity and impaired mineralisation. In our study, we investigated whether muscle strength and mass exert a significant effect on bone mineral density in young adult women. We also tested whether sclerostin can be used as an indicator in the assessment of bone mineralisation. The study included 111 patients. All patients had their bone mineral density determined in the L1-L4 section of the lumbar spine and in the whole skeleton. The parameters of fat mass (FM), lean body mass (LBM) and visceral fat mass (VF) were also determined. Metabolic activity of osteocytes was assessed by measuring the serum sclerostin concentration. There was a statistically significant association of both hands' muscle strength with all parameters expressing bone mineralisation. A statistically significant relationship was also obtained between BMD L1-L4 and the body mass components (FM, LBM). Sclerostin levels in the study did not differ between groups with normal and reduced bone mineral density. Muscle strength assessment may be a potential exponent of reduced bone mineral density, also used clinically in young adult women. The utility of sclerostin in the clinical assessment of bone mineralisation has not been demonstrated.

Pilot Study: FSHR Expression in Neuroendocrine Tumors of the Appendix.

Appendix neuroendocrine neoplasm (ANEN) treatment is based on tumor size and proliferation markers. Recently, the role of the follicle-stimulating hormone receptor (FSHR) from the clinical perspective has also been increasingly discussed. The FSHR is expressed in the endothelial cells of both intratumoral and peritumoral blood vessels, where it contributes to neoangiogenesis and blood vessel remodeling. FSHR expression is associated with a range of tumor types, such as gastrointestinal tumors, and it is not detected in healthy tissues located more than 10 mm from the tumor site or in tumor lymphatics. In this study, we evaluated the expression of FSHR and CD31 in the blood vessels of ANENs in females and males with confirmed histopathology. We conducted a quantitative analysis of the immunohistochemical reactions and found a higher number of microvessels in the mucosa and submucosa of neuroendocrine tumors in the appendix. A higher level of FSHR expression was observed in women. Future research should consider whether an elevated number of blood vessels along with a strong pattern of FSHR expression may influence future treatment strategies.

Influence of hsCRP Parameter on the Occurrence of Metabolic Syndrome in Patients with Polycystic Ovary Syndrome.

PCOS (polycystic ovary syndrome) is a common endocrine disorder that affects 8-13% of women of reproductive age. Increased body weight and insulin resistance may be associated with chronic inflammation, which increases the risk of cardiovascular complications. CRP (C-reactive protein) tests may be use to assess persistent inflammation. Elevated CRP levels may be associated with insulin resistance and type 2 diabetes. Determination of hsCRP, highly sensitive C-reactive protein, can be used to assess cardiovascular risk in women with PCOS. In this study, 120 women between the ages of 18 and 42 were divided into two groups: patients with polycystic ovary syndrome (n = 80) and regular menstruating women in whom PCOS was excluded (n = 40). Lipid and carbohydrate metabolism parameters and hsCRP levels were assessed, followed by receiver operating characteristic (ROC) analysis for hsCRP, where metabolic syndrome was the dependent variable. For hsCRP, the cutoff point was 1.44 (mg/dL). Sensitivity for the cutoff point was 0.913 and specificity was 0.691. The area under the curve (AUC) was 0.851 (p < 0.000). The closer the AUC value is to unity, the better the predictive ability of the studied variable. There was also a statistically significant correlation between hsCRP levels and the presence of metabolic syndrome.

[Sexual activity among young women. Medical and legal aspects]. / Aktywnosc seksualna dziewczat. Aspekty medyczne i prawne.

BACKGROUND: Proper age of sexual initiation remains a topical issue in developmental sexology and gynecology Premature sexual début is a risk factor for sexually transmitted diseases (STD) and their consequences: unplanned pregnancy and emotional stress. Consequences of risky sexual behavior (young age of sexual initiation, number of sexual partners or using unsafe contraceptive methods) are more severe for women. State of knowledge about sexual activity of Polish women is still insufficient, whereas patterns of sexual behavior are in the process of undergoing dramatic changes due to the influence of the western culture. OBJECTIVES: Two main aims of the study were: (1) to examine whether age of sexual début and patterns of sexual behavior have changed over the past decades among young Polish women and (2) to consider the medical and legal aspects regarding juvenile patients who are sexually active. MATERIALS AND METHODS: Two hundred women, born within two consecutive decades (1975-1995) in the Wielkopolska region (Poland) were asked to fill in a questionnaire concerning the following: age at sexual initiation and the contraceptive method used at the time, preferred forms of sexual activity current contraceptive methods. Statistical analysis was performed using the Statistica 9.0 software [StatSoft]. Statistical evaluation was based on the chi-square test and analysis of covariance (ANCOVA). RESULTS: The average age of sexual initiation decreased significantly between the two studied cohorts of women and ranged from 18.9 for women born between 1975 and 1984 (cohort I) and 17.6 for women born between 1985 and 1995 (cohort II), regardless of the place of residence. The percentage of women who had their first sexual intercourse by the age of 15 years was 0% in cohort I and 8.2% in cohort II. Other characteristics of sexual activity were similar across the studied cohorts of women. Condom use during the first sexual intercourse was the preferred form of contraception (59.2%). 65% women have reported current contraceptive use. As for the preferred type of intercourse, all women (100%) chose vaginal sex. The most frequent number of sexual intercourses per month was 7 or more (41.7%). CONCLUSIONS: The age of sexual début among Polish women has decreased significantly over the last decades. Premature initiation is believed to increase the risk of unplanned pregnancy STDs and emotional stress. Polish medical and legal circles lack unequivocal stand on how to deal with juvenile patients who are sexually active, expect to receive advice from a gynecologist, a gynecologic examination and prescribed contraceptives.

Case report: Hydrometrocolpos conditioning recurrent urinary tract infections.

We present a case of a 12.5-year-old girl who has suffered from recurrent urinary tract infections for many years but has never undergone a detailed diagnostic process. Only as a teenager did she complain of acute pain in her lower abdomen and it turned out that her genital organs had not properly developed. She had an obstructive defect in the reproductive tract. When there was a significant amount of discharge collected in the lumen of the genital tract and the organs had distended, acute pain appeared, which allowed us to make the diagnosis. In the diagnostic process, transperineal ultrasonography turned out to be extremely helpful, allowing us to establish the type and thickness of the obstruction. The patient underwent excision of transverse vaginal septum, and postoperative silicon dilators were used to prevent the recurrence of the obstruction. There was no recurrence of urinary infection or complications during the 11 months of follow-up.

Association of the CYP19A1 rs700518 Polymorphism with Selected Markers of Bone Metabolism in Women with Hyperandrogenism.

Hyperandrogenism is the most common endocrine disorder in women, characterized by an imbalance of normal estrogen and androgen levels in the blood. Androgens play an important role in the female body because they influence bone mineral density (BMD), body mass composition, muscle mass, mental state, and the regulation of sexual function. The reduced activity of aromatase, due to mutations in the CYP19A1 gene, reduces the estrogen pool in favor of androgens. Clinically, aromatase deficiency causes hyperandrogenism in women. Therefore, the aim of the study was to assess the effect of the CYP19A1 gene polymorphism on selected markers of bone metabolism and hormonal parameters in women with hyperandrogenism. The study group was comprised of 80 young women with hyperandrogenism who underwent measurements of bone mineral density (BMD), and determination of hormonal and metabolic parameters. Enzyme immunoassays were used to measure leptin, total sRANKL (free and bound RANKL), osteoprotegerin, and total 25-OH Vitamin D. An analysis of the CYP19A1 gene polymorphisms was performed using the real-time PCR method. The GG genotype of the CYP19A1 rs700518 polymorphism turned out to be associated with: FEI (Free Estradiol Index), SHGB concentration, estradiol concentration, and insulin concentration determined in the glucose tolerance test 60' compared to AG and AA genotypes. Patients with the AG genotype had a higher ratio of android to gynoid fat and a greater content of visceral adipose tissue. Higher visceral tissue content may reduce BMD. In conclusion, the study showed that the CYP19A1 rs700518 polymorphism may be associated with the distribution of adipose tissue in young women with hyperandrogenism. These results suggest that patients with the AG genotype may develop osteoporosis.

The influence of ESR1 polymorphisms on selected hormonal, metabolic and mineral balance markers in women with hyperandrogenism.

Hyperandrogenism is the most common endocrine disorder in women, characterized by an imbalance in normal estrogen and androgen levels in the blood. Androgens influence bone mineral density, body mass composition, muscle mass, mental state, and the regulation of sexual function.. The aim of the study was to assess the effect of estrogen receptor α gene (ESR1) polymorphisms on selected markers of bone metabolism and hormonal parameters in women with hyperandrogenism. The study group included 80 young women with hyperandrogenism who underwent measurements of bone mineral density (BMD), and determination of hormonal and metabolic parameters. Enzyme immunoassays were used to measure leptin, sRANKL (soluble receptor activator of nuclear factor-kB ligand), osteoprotegerin and 25-OH vitamin D total levels. An analysis of ESR1 gene polymorphisms was performed using the real-time PCR method. A relationship was demonstrated between the concentration of free estradiol (FEI) and the concentration of 17-OH-progesterone, and the ESR1 gene polymorphisms: rs3020314 (p = 0.031, p = 0.026 respectively) and rs1884051 (p = 0.033, p = 0.026 respectively). In conclusion, the ESR gene polymorphisms may be associated with hormonal disturbances in the concentration of estrogens and androgens, in hyperandrogenism in young women which may indirectly affect bone mineral density. However, no statistically significant relationships between the studied polymorphisms and the selected parameters of mineral metabolism have been demonstrated..

Evaluation of Hormonal Factors in Acne Vulgaris and the Course of Acne Vulgaris Treatment with Contraceptive-Based Therapies in Young Adult Women.

Acne vulgaris is a common chronic inflammatory skin disease, which is considered one of the diseases of civilization due to the significant influence of environmental factors on the severity and frequency of these lesions. The aim of this study was to evaluate the hormonal profile of patients before treatment and to assess selected hormonal parameters after treatment. Our first objective was to examine the correlation between the selected hormonal parameters and the severity of acne before treatment. Our second objective was to evaluate the impact of treatment with three therapies, as measured by the selected hormonal parameters and acne severity. Statistical calculations were performed using the R v.4.1.1 statistical calculation environment (IDE RStudio v. 1.4.1717) with a significance level for the statistical tests set at α = 0.05. The results showed that the women in the pre-treatment (T1) and control (C) groups had significant differences in testosterone, androstendione, FAI, SHBG, prolactin, ACTH, and cortisol concentrations. After treatment, there were still significant differences in testosterone, androstendione, FAI, and SHBG concentrations between the post-treatment (T2) and control groups. We concluded that testosterone, androstendione, and cortisol concentrations correlate with acne severity. Acne in adult women may be an important clinical marker of androgen excess syndrome and cannot be considered a transient symptom of puberty. The mainstay of acne treatment is contraceptive therapy (ethonylestradiol and drospirenone). In this study, we confirmed the effectiveness of three contraceptive-based treatments using hormonal parameters and acne severity.