The progesterone receptor PROGINS polymorphism is not related to oxidative stress factors in women with polycystic ovary syndrome

<p>Abstract</p> <p>Background</p> <p>Women with PCOS have been reported to be at increased risk of a number of gynaecological neoplasias, including endometrial, breast, and ovarian cancer. Studies of the possible association of genetic variation in progesterone receptor polymorphism with risk of ovarian and breast cancer have concentrated on a variant known as PROGINS.</p> <p>Methods</p> <p>Ninety-five young women with PCOS and 99 healthy control women were included in our study. All subjects underwent venous blood drawing for complete hormonal assays, lipid profile, glucose, insulin and <it>PROGINS </it>polymorphism genetic study.</p> <p>Results</p> <p>In PROGINS polymorphism results; in both control and the patient groups T1/T1 has been detected in high levels. But for genotype (p = 0.178) and allele (p = 0.555) frequencies both of the groups give similar results. Statistically significant difference has been detected on serum FSH levels for T1/T1 genotype according to T2/T2 genotype.</p> <p>Conclusion</p> <p>No relation has been detected between the inflammatory and oxidative stress factors, and PROGINS polymorphism alleles. This may be because the PCOS patients are young and their BMI means are normal and their CIMT and oxidative stress markers are like healthy women.</p

4G/5G Polymorphism of PAI-1 gene and Alu-repeat I/D polymorphism of TPA gene in Turkish patients with polycystic ovary syndrome

WOS: 000249791700006PubMed ID: 17661167Purpose Polycystic ovary syndrome (PCOS) is one of the most encountered endocrine malfunctions. PCOS patients have enhanced activation of the blood coagulation system. Methods Eighty-six young women with PCOS and 70 healthy control women were included in our study. PCOS patients and controls were matched for age, body mass index, and allele frequency. Genetic analysis of TPAI and PAI-1 were performed in all subjects. Results and conclusions No statistically significant differences have been detected about the ratios of genotypes resulting from PAI-1 promotor 4G/5G gene polymorphism. PAI-1 765 4G/5G gene polymorphism and TPA gene's Alu-repeat insertion/deletion (I/D) polymorphism ratios were not different from the controls. In this study it is shown by the analysis of TPA gene's Alu-repeat insertion/deletion (I/D) polymorphism the PCOS patients with genotype II had lowers total cholesterol and LDL-cholesterol levels

Can gossypol be a hope for transsexual patients (male to female) before sex reassignment surgery? Just for adjusting the body to mind

WOS: 000270374400048PubMed ID: 1964794

Patients with Ectopic Posterior Pituitary: Report of Six Cases

WOS:000627743000006Objective: Ectopic posterior pituitary (EPP) can occur because of a migration defect or neurodegeneration of the hypothalamic nuclei. EPP is typically rarely diagnosed. Therefore, we aimed to report our patients with EPP. Material and Methods: This is a retrospective study (approved by the Ege University Ethical Committee, protocol 20-7T/49) that included 6 patients with EPP who were followed up between 2012 and 2019. We collected information on age, sex, height, weight, body mass index, age at the diagnosis, history of traumatic delivery, consanguinity, multiple hormone deficiency and treatment. We examined laboratory levels and medical records, and, magnetic resonance imaging (MRI) reports. Results: The mean age of patients was 25.83 years, and the age at diagnosis was 11.16 years. One patient was female, and the others were male. They were receiving hormone replacement treatment. The patients were diagnosed with EPP during their childhood. All patients, except 2, were taking growth hormone replacement therapy. Only one patient had a history of consanguinity. Additional information about the patients is described in the patient sections. Conclusion: Patients with EPP are rarely seen, and this rare condition should be considered when a patient has panhypopituitarism. MRI is the gold standard imaging modality for hypophysis to identify this condition. in addition, patients who have EPP in MRI should be screened for hypopituitarism

Obstructive sleep apnea characteristics in patients with well-controlled acromegaly and their compliance with positive airway pressure therapy

WOS: 000414976900007PubMed ID: 29151303Background/aim: Acromegaly is often associated with obstructive sleep apnea syndrome (OSAS) with a frequency between 40% and 80%. The aim of the present study was to evaluate the clinical and polysomnographic characteristics of acromegaly patients with sleep apnea symptoms and to identify positive airway pressure (PAP) adherence in acromegaly patients with OSAS diagnosis. Materials and methods: Twenty-eight well-controlled acromegaly patients (17 males, mean age 48.7 +/- 10.1 years) with sleep apnea symptoms were included in this prospective study. Demographic data, anthropometric measurements, and medical history were evaluated. Full-night in-laboratory polysomnography was performed. Results: Polysomnography results showed that 25 patients (89.3%) had OSAS with a mean apnea-hypopnea index (AHI) of 37.7 +/- 28.8/h. All 17 male patients were diagnosed with OSAS, whereas 8 female patients (72.7%) had OSAS (P = 0.05). Male patients also had more severe OSAS than females (AHI 48.3 +/- 29.0 vs. 21.3 +/- 20.1 events/h, respectively; P = 0.012). Twenty-two patients out of 28 were considered to be eligible candidates for PAP therapy. The PAP adherence rate was found to be 50% during follow-up. Conclusion: Our results confirm OSAS as a common disorder in acromegaly patients as well as PAP therapy being required for a majority of patients. Therefore, all acromegaly patients should be assessed in terms of OSAS and be followed closely for the evaluation of PAP adherence

Aromatase Deficiency, a Rare Syndrome: Case Report

WOS: 000339649300013PubMed ID: 23748068Aromatase deficiency (AD) is a rare autosomal recessive inheritance syndrome. Its worldwide incidence is unknown, and there are few case reports in the literature. Aromatase dysfunction develops due to CYP19A1 gene mutation and a decrease in estrogen synthesis. Estrogen deficiency can induce delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis in both genders. Our patient was a 27-year-old male who presented with bone pain, recurrent bone fractures associated with minimal trauma starting in puberty, and a progressive increase in height. Laboratory tests revealed that the blood levels of follicle-stimulating hormone and luteinizing hormone were above normal, testosterone level was normal, and estrogen was undetectable. Plain bone radiography of the left wrist and hand demonstrated that the epiphyses were still unfused. Lumbar osteoporosis was detected in bone densitometry. In the genetic analysis, homozygous R375H guanine-adenine (G-A) mutation was detected in the CYP19A1 gene, and a diagnosis of AD was reached. Treatment with 25 mu g transdermal estradiol was started. All family members were examined. Homozygous R375H G-A mutation was detected in the patient's younger brother. Heterozygous R375H G-A mutation was found in his mother, father, and older brother. In conclusion, this AD patient requires lifetime estrogen replacement in order to provide sufficient bone mineralization, to reduce the risk of bone fractures, and to lead a healthy life. The best method to prevent the possible complications is to diagnose the AD syndrome at early ages and to provide adequate estrogen replacement starting at puberty

First metreleptin treatment for generalized lipodystrophy in Turkey

WOS: 000392593900019PubMed ID: 2771712

Metreleptin replacement treatment improves quality of life and psychological well-being in congenital generalized lipodystrophy

The near total lack of subcutaneous fat in congenital generalized lipodystrophy (CGL) leads to the accumulation of fat in ectopic organs and severe insulin resistance, which are associated with serious metabolic abnormalities. Cosmetic aspects of the disease are likely to affect the quality of life (QoL) and physiological well-being in these individuals. Metreleptin, recombinant human leptin, replacement treatment has been shown to have benefits in treating the metabolic abnormalities of CGL. In a patient with CGL caused by a homozygous AGPAT2 pathogenic variant, we examined QoL and mood alterations (depression and anxiety) caused by this chronic disease. Metreleptin replacement treatment led to dramatic metabolic improvement in our patient. It was also was associated with improvements in QoL, depression and anxiety scores. We suggest that there is need for studies to document the benefit of metreleptin replacement treatment on QoL and physiological well-being in patients with CGL