Panagiotis Christopoulos

Anxiety and depression in adolescents with polycystic ovary syndrome and Mayer-Rokitansky-Küster-Hauser syndrome

Purpose. The purpose of this study was to assess self-reported depressive and anxiety symptoms in adolescents with polycystic ovary syndrome (PCOS) and those with the rare Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS), compared with healthy adolescents. Material and methods. The participants were 49 adolescent girls, of whom 27 were patients with confirmed menstrual disorder, 22 with PCOS and 5 with MRKHS; and 22 were healthy eumenorrheic adolescents (control group) matched by age and school grade. The Beck Depression Inventory (BDI) and the State-Trait Anxiety Inventory (STAI-Gr) were used to measure depression and anxiety, respectively. Results. The results showed that it was 1.08 times more likely for the PCOS group (p = 0.043) and 1.12 times more likely for the MRKHS group (p = 0.039) to have higher scores than healthy adolescents on the anxiety scale. The MRKHS group was 1.40 times more likely to have a higher number of depressive symptoms (p = 0.040) than the control group. Conclusions. These findings, although based on a small sample, suggest a relationship between PCOS and MRKHS and the presence of psychological problems, such as anxiety and depressive symptoms in adolescents. This study is among the first to examine psychological difficulties in adolescents with such a rare menstrual syndrome as MRKHS.

THE ROLE OF GENES IN THE POLYCYSTIC OVARY SYNDROME: PREDISPOSITION AND MECHANISMS

The polycystic ovary syndrome (PCOS), mainly characterized by clinical and/or biochemical hyperandrogenism, ovarian dysfunction and/or polycystic morphology as well as associated metabolic disorders, is the most common endocrine disorder in women of reproductive age. The familial clustering of PCOS cases and the accumulating evidence that the interaction between multiple genetic and environmental factors is necessary for the development of the syndrome, has triggered the conduct of genetic studies on PCOS. These studies have focused on many genetic polymorphisms, investigating their possible positive or negative correlation with the syndrome. The related genes can be grouped in four categories: those related with insulin resistance, those that interfere with the biosynthesis and the action of androgens, those that encode inflammatory cytokines and other candidate genes. Despite the progress that has been made in the elucidation of the genetic mechanisms of the PCOS, the genetic studies on the syndrome still face many obstacles and challenges. Further studies are needed, in order to shed new light in the pathogenesis of the syndrome, which will allow for new approaches in the diagnostics and therapeutics of PCOS.

Myomectomy during Cesarean Section

Abstract:  A patients frequent request is the simultaneous surgical removal of a previously diagnosed myoma during cesarean section. The aim of this study was to evaluate the safety and efficacy of myomectomy during cesarean section. From January 1995 until December 2004, 47 pregnant women with coexisting uterine myomas underwent cesarean section and simultaneous myomectomy. All cesarean sections were performed by residents while myomectomies were conducted by the senior staff. Intraoperative and postoperative complications such as blood loss were estimated and compared with 94 women with uterine myomas who underwent surgical delivery without removal of the fibroids. Furthermore, the length of hospitalization was compared between the two groups. Myomectomy added a mean time of 15 min to the operative time of cesarean section. No hysterectomy was performed at the time of the cesarean section. No complications were developed during the puerperium. The difference between the preoperative and postoperative hemoglobin mean value was statistically significant (P= 0.001) but did not differ between isolated cesarean and myomectomy‐combined cesarean groups. None of the patients received blood transfusion. The length of hospitalization was comparable between the two groups. Despite controversial literature data, we suggest that myomectomy during cesarean section could be generally recommended. Depending on size and location of myomas, the associated risks are similar to those of isolated cesarean section.

Creation of a neovagina after Creatsas modification of Williams vaginoplasty for the treatment of 200 patients with Mayer-Rokitansky-Kuster-Hauser syndrome

OBJECTIVE To present and evaluate the results of the Creatsas modification of Williams vaginoplasty for the creation of a neovagina in young women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. DESIGN Retrospective study. SETTING Division of Pediatric-Adolescent Gynecology and Reconstructive Surgery, Second Department of Obstetrics and Gynecology, University of Athens, Aretaieion Hospital, Athens, Greece. PATIENT(S) Two hundred patients with the MRKH syndrome. INTERVENTION(S) Clinical examination, pelvic ultrasound, intravenous urography and/or renal ultrasound, laparoscopy, karyotyping, orthopedics and ears, nose, and throat examination, magnetic resonance imaging, and Creatsas modification of Williams vaginoplasty. MAIN OUTCOME MEASURE(S) Neovaginal functional dimentions, neovaginal axis deviation, and quality of sexual life. RESULT(S) A functioning vagina of 10-12 cm in depth and 5 cm in width was created in 191 cases (95.5%). A vagina between 7 and 9 cm in depth and 2 and 3 cm in width was created for the remaining nine patients (4.5%). In addition, 94.5% declared themselves to have a satisfactory quality of sexual life, while only 5% of the cases reported an adequate one. CONCLUSION(S) Creatsas modification of Williams vaginoplasty is a simple, quick, and effective method for the treatment of vaginal agenesis.

Genetic variants in TCF7L2 and KCNJ11 genes in a Greek population with polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS), the most common reproductive endocrine disorder of premenopausal women, is strongly associated with hyperinsulinemia and type 2 diabetes mellitus (T2DM). Given the phenotypic overlap between PCOS and T2DM, our objective was to investigate whether the TCF7L2 rs7903146(C/T) and the KCNJ11 E23K variants are involved in susceptibility to PCOS and related traits in a Greek population. A total of 183 PCOS patients and 148 healthy controls participated. All participants were Greeks. Blood was taken before hormonal therapy. PCOS patients and healthy controls were genotyped for the TCF7L2 and KCNJ11 variants. The T allele of the TCF7L2 rs7903146 variant was found to be marginally over-represented in Greek patients with PCOS. There was no association between KCNJ11 E23K polymorphism and PCOS in the present study. In addition, there were no associations observed between hormone levels and insulin resistance in PCOS carriers of TCF7L2 rs7903146 and KCNJ11 E23K variants. These data provide evidence that the rs7903146 variant of the TCF7L2 gene might influence PCOS predisposition, while no association is observed between the E23K variant of KCNJ11 and susceptibility to PCOS and related traits.

Psychological and behavioural aspects of patients with Turner syndrome from childhood to adulthood: a review of the clinical literature.

Turner syndrome (TS) is a chromosomal abnormality, which occurs in approximately one of every 2500 female births. Short stature, infertility, additional physical abnormalities, skeletal and medical problems may be present. Genetic, hormonal, and medical problems associated with TS are likely to affect psychosexual development of female adolescents patients, and thus influence their psychological functioning, behavior patterns, social interactions and learning ability. Although TS constitutes a chronic medical condition, with possible physical, social and psychological complications in a womans life, hormonal and estrogen replacement therapy and assisted reproduction, are treatments that can be helpful for TS patients and improve their quality of life. Authors report on a review of the research literature clinical aspects of the syndrome as well as the beneficial effect of hormonal therapy in such patients.

The rs10830963 variant of melatonin receptor MTNR1B is associated with increased risk for gestational diabetes mellitus in a Greek population

OBJECTIVETo investigate the association between Gestational Diabetes Mellitus (GDM) and the variants rs10830963 and rs1387153 in the MTNR1B locus in a sample of the Greek population.DESIGNOne hundred seventy-five unrelated pregnant Greek women (77 with GDM and 98 non-diabetic control subjects) were enrolled and the SNaPshot method was employed in order to investigate the association between GDM and the variants rs10830963 and rs1387153 in the MTNR1B locus. Pregnant women were screened for GDM at the 26th week with the 75 g glucose oral glucose tolerance test according to the American Diabetes Association criteria.RESULTSThe GG genotype and the G-allele of the rs10830963 (C/G) variant was found to be positively associated with a significantly increased risk for GDM (p = 0.047 and p = 0.012, respectively). No differences in fasting glucose and insulin levels were found between GDM patients with and without the studied variants. The MTNR1B locus (rs10830963 C/G) seems to predispose for GDM in Greek pregnant women.CONCLUSIONSOur study confirms the association of GDM with the rs10830963 (C/G) variant in a sample of the Greek population. Population based whole genome screening studies and larger studies with detailed phenotypic data in patients with GDM are needed to address the clinical significance of this finding.

Parathyroid hormone-related peptide (PTHrP), parathyroid hormone/parathyroid hormone-related peptide receptor 1 (PTHR1), and MSX1 protein are expressed in central and peripheral giant cell granulomas of the jaws

OBJECTIVE Parathyroid hormone-related peptide (PTHrP) binds to the parathyroid hormone receptor type 1 (PTHR1), which results in the activation of pathways in osteoblasts that promote osteoclastogenesis through the RANK/RANKL system. RANK/RANKL expression has been shown in central giant cell granuloma of the jaws but PTHrP/PTHR1 has not. MSX1 protein is a classical transcription regulator which promotes cell proliferation and inhibits cell differentiation by inhibiting master genes in tissues such as bone and muscle. It has been implicated in the pathogenesis of cherubism, and its expression has been reported in a single central giant cell granuloma (CGCG) case. We aimed, therefore, to study the expression of those proteins by the different cellular populations of central and peripheral giant cell granulomas (PGCGs) of the jaws. STUDY DESIGN Twenty cases of CGCG and 20 cases of PGCG of the jaws were retrospectively examined by immunohistochemistry for the percentage of positively staining cells to antibodies for PTHrP, PTHR1, and MSX1, using a semiquantitative method. RESULTS In both CGCG and PGCG of the jaws, PTHrP and PTHR1 were abundantly expressed by type I multinucleated giant cells (MGC) and mononucleated stromal cells (MSC) with vesicular nuclei, whereas type II MGC and MSC with pyknotic nuclei expressed those proteins to a lesser extent. In both CGCG and PGCG of the jaws, MSX1 was abundantly expressed by type I MGC and MSC but type II MGC did not express it. A statistically significant difference (P < .05) was observed between CGCG and PGCG in the expression of PTHrP in type II MGC and MSC with pyknotic nuclei and in the expression of PTHR1 in type II MGC. CONCLUSIONS We suggest that in CGCG and PGCG of the jaws, PTHrP-positive immature osteoblasts activate PTHR1-positive mature osteoblasts to produce RANKL which interacts with RANK on the PTHrP/PTHR1-positive osteoclast-precursor cells found in abundance in the stroma of giant cell lesions and induces osteoclastogenesis through the classic pathway. Cells of the jawbones, the periodontal ligament, or the dental follicle, originating from the neural crest, may be involved in the pathogenesis of giant cell lesions of the jaws. Further study is required for these suggestions to be proved.

Study of association of IRS-1 and IRS-2 genes polymorphisms with clinical and metabolic features in women with polycystic ovary syndrome. Is there an impact?

Objective. Insulin receptor substrate (IRS) proteins are critical to signal transduction in insulin target tissues. The present study was undertaken to determine whether IRS-1 Gly972Arg and IRS-2 Gly1057Asp influence hormonal and metabolic characteristics in Greek patients with polycystic ovary syndrome (PCOS) and controls. Material and methods. One hundred and eighty-three women with PCOS and 88 healthy volunteers were enrolled. Venous blood samples were obtained for genetic study and hormonal profile, glucose, and insulin assays, on days 3 to 7 from cycling patients. DNA was extracted by whole blood samples for genotyping and detection of IRS-1 Gly972Arg and IRS-2 Gly1057Asp polymorphisms. Results. Fifty-six women with PCOS (30.60%), whereas 12 women in the control group (13.64%) carried the IRS-1 polymorphism (p = 0.0026). No statistically significant differences in genotypes or allele frequencies for IRS-2 polymorphism were observed between controls and PCOS women. No significant differences in any clinical or hormonal measures between subjects on the basis of genotype were observed, except the increased levels of fasting glucose that exhibit the carriers of the Asp allele of the IRS-2 polymorphism. Conclusions. Only the IRS-1 polymorphism is associated with increased susceptibility to PCOS in a Greek population. These loci should not be considered as major contributors to the hormonal and metabolic phenotype of PCOS.

Maternal and umbilical resistin levels do not correlate with infant birth weight either in normal pregnancies and or in pregnancies complicated with gestational diabetes

Objective. To evaluate the role of resistin in the pathophysiology of insulin resistance during pregnancy and on the birth weight of infants born from women with gestational diabetes (GDM). Material and methods. Thirty women diagnosed with GDM were compared to 30 normal pregnant controls. Maternal serum resistin and insulin levels were measured at the time of the oral glucose tolerance test screening. In addition, umbilical levels of resistin and insulin were measured at the time of delivery. Results. There was no difference in maternal serum resistin levels in women with GDM as compared to normal controls at 24–26 weeks. There was no difference in umbilical resistin levels between the infants born in the two groups. There was no correlation between infant weight and either maternal resistin at 24–26 week or umbilical resistin levels. Conclusion. There were no significant differences in umbilical resistin levels between infants born of women with GDM as compared to normal pregnant women. In addition, there was no correlation between resistin levels during pregnancy, as well as between umbilical resistin levels and neonatal birth weight. In conclusion, resistin seems to play a rather minor role in the pathophysiology of GDM and the energy metabolism during fetal life.