Cristina Ros

Atherogenic metabolic profile in PCOS patients: role of obesity and hyperandrogenism

Objective. To investigate glyco-lipidic metabolism and androgenic profile in a cohort of women with polycystic ovary syndrome (PCOS) divided according to Rotterdam phenotypes and body mass index (BMI). Design. A prospective case–control study. Setting. Gynecology department in a teaching hospital. Patients. A total of 223 PCOS women and 25 healthy control women were studied. Methods. Patients and controls were subdivided into three groups according to their BMI: normal weight (18.5 ≤ [BMI] ≤24.9 kg/m2), overweight (25.0 ≤ BMI ≤29.9 kg/m2), or obese (BMI ≥30.0 kg/m2) and according to Rotterdam criteria of PCOS. Main outcome measures. Pituitary-gonadal axis assessment including follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, PRL, testosterone, androstenedione, DHEA-S, 17-hydroxyprogesterone and inhibin B. Metabolic parameters included cholesterol (Chol), high-density lipoprotein (HDL), low-density lipoprotein (LDL), triglycerides (TG) and apolipoproteins (APO) AII and B as well as serum fasting insulin, glucose and HOMA-IR. Results. Serum fasting insulin, glucose, HOMA-IR, TG and HDL were significantly higher in women with PCOS compared to controls. Additionally, serum levels of Chol, LDL and TG were significantly higher and HDL levels were significantly lower in obese PCOS women compared with overweight/normal PCOS irrespective of Rotterdam phenotypes. Free testosterone index but not androstenedione or total testosterone significantly correlated with TG, HDL and APO B. No significant correlations were detected between gonadotropins, inhibin B or estradiol with metabolic parameters studied. Conclusions. Obesity but not overweight in PCOS is associated with dyslipidemia. Hyperandrogenic women showed the most atherogenic lipid profiles.

Turner's syndrome and other forms of congenital hypogonadism impair quality of life and sexual function

OBJECTIVE We sought to assess the burden of Turners syndrome (TS) and other congenital hypogonadisms (OCH) on quality of life (QOL) and sexual function. STUDY DESIGN An observational study was undertaken in a gynecological endocrinology unit of a teaching hospital. Three cohorts of women aged 20-50 years were compared: 26 TS patients, 21 women with OCH and wild-type karyotype, and 41 healthy age-matched women who were included as controls. All subjects filled out the Medical Outcome Study Short Form (SF-36) and the Female Sexual Function Index. RESULTS TS subjects had significantly worse QOL scores in physical functioning (P = .026) and role physical functioning (P = .032) whereas OCH showed significantly worse scores in physical functioning (P = .027) and bodily pain (P = .025) compared to controls. In all, 80% of OCH and 50% of TS patients declared sexual activity. Sexually active TS patients had poorer arousal outcomes (P = .009) and OCH women showed significantly worse scores in arousal (P = .002), orgasm (P = .007), pain (P = .001), and Female Sexual Function Index total score (P = .004) compared with healthy controls. No differences between sexually active and inactive TS women were found in SF-36 scores, clinical characteristics, or anthropomorphic characteristics. CONCLUSION TS and OCH subjects presented impaired physical domains in QOL. Women with TS are less likely to be involved in sexual activity, arousal dysfunctions being their main symptom. Conversely, arousal, orgasm, pain, and total score were significantly affected in OCH subjects.

Pituitary-ovary axis and ovarian reserve in fertile women with multiple sclerosis: A pilot study.

Since a decline in the ovary function might impact the reproductive potential in women with multiple sclerosis (MS), we investigated the pituitary-ovary axis and ovarian reserve, including anti-Müllerian hormone (AMH) levels and ultrasound imaging of the ovaries, of 25 relapsing–remitting MS patients and 25 age-matched healthy controls. Mean levels of pituitary-gonadal hormones and age-adjusted parameters of ovarian reserve markers were not significantly different between both groups. Patients with higher disease activity (annualized relapse rate >0.5; n=9) had significantly lower AMH levels, total antral follicle count and ovarian volume, than those with lower disease activity. The finding of poorer ovarian reserve associated with higher disease activity should be taken into consideration since it may negatively impact the reproductive prognosis.

Bowel Preparation Improves the Accuracy of Transvaginal Ultrasound in the Diagnosis of Rectosigmoid Deep Infiltrating Endometriosis: A Prospective Study

STUDY OBJECTIVE To compare the accuracy of transvaginal ultrasound (TVUS) with and without bowel preparation (BP) to detect and describe intestinal nodules of deep infiltrating endometriosis (DIE) with laparoscopic findings. DESIGN A prospective study of paired data (Canadian Task Force classification II.1). SETTING A tertiary university hospital from November 2014 to November 2015. PATIENTS A cohort of women awaiting surgery for endometriosis. INTERVENTIONS The wall of the rectum and the lower sigmoid colon of the patients were evaluated by 2 TVUSs: the first ultrasound was performed without previous BP, and the second was done after a 3-day low-residue diet and two 250-mL enemas 12 hours and 3 hours before TVUS. MEASUREMENTS AND MAIN RESULTS The presence or absence of rectosigmoid nodules visualized by TVUS with and without BP was compared with laparoscopic results. Forty patients with a mean age of 36.8 ± 5.0 years were included in the study. By comparing the surgical findings histologically confirmed (the presence or absence of bowel nodules and localization) with those of the 2 TVUSs with and without BP, the sensitivity, specificity, and Cohen kappa were 100%, 96%, and 0.95 and 73%, 88%, and 0.61, respectively. Laparoscopy showed that up to 37.5% of patients (15/40) presented bowel involvement. Variables were clearly more evaluable with than without BP. CONCLUSION TVUS with BP has a higher accuracy than TVUS without BP. BP allows and facilitates the detection of more rectal nodules of DIE in patients with suspected endometriosis and surgical criteria.

Management of Turner’s syndrome in adult life: case-series and systematic review

Objective: To assess the symptoms and outcomes of clinical management in adult patients with Turner’s Syndrome. Design: Retrospective case-series and systematic review of the literature. Setting: Gynaecological Endocrinology Unit in a teaching hospital. Patients: Patients followed in the Gynaecological Endocrinology Unit. Interventions: Review of medical records and a computer search via several databases to identify journals relevant to the subject were performed. Main outcome measures: Final height, weight, previous treatments with growth hormone, cardiac or renal malformations, metabolic profile, and additional treatment for osteoporosis. Results: Thirty-one patients were analysed. Differences in final height were found between groups with monosomy and other karyotypes. Four patients bore congenital cardiac malformations, and six, renal congenital malformations. Nine patients had a previous diagnosis of hypercholesterolemia. The most abnormal hepatic parameter was GGT, with fifteen patients having values over the normality limit. Ten patients were receiving treatment for osteopenia or osteoporosis. Conclusions: This case-series provides recommendations for the management of adult patients with Turner’s syndrome and insight into the different medical complaints of this syndrome. A link between karyotypes and clinical features suggests a novel hypothesis to explain the different phenotypes and clinical abnormalities of these patients.

Loss of smell but not taste in adult women with Turner's syndrome and other congenital hypogonadisms

OBJECTIVES To assess the impact of Turners syndrome (TS) and other congenital hypogonadisms (OCH) on the sense of smell and taste. DESIGN An analytical study of three independent cohorts was designed: patients affected by TS, OCH, and a control group of healthy women taking contraception. SETTING Gynaecological Endocrinology Unit and Smell Clinic in Rhinology Unit of Hospital Clinic of Barcelona. PARTICIPANTS Thirty TS patients between 20 and 50 years of age receiving hormone replacement treatment (HT) were included as the exposed cohort; fourteen age-matched women with OCH taking HT were recruited; forty-three age-matched healthy controls receiving hormone contraception treatment were selected as the control group. This group was matched with an historical cohort of forty healthy women without contraception, used to validate BAST-24 in Hospital Clinic of Barcelona. INTERVENTIONS Clinical history, presence of nasal symptoms, general physical examination, nasal endoscopy, and Barcelona Smell Test-24 (BAST-24) and gustometry were carried out on all patients. MAIN MEASURES TS physical dysmorphology features, intensity of nasal symptoms and signs of nasal obstruction were collected. BAST-24 test included 24 odours to assess both sensory (detection, memory and forced choice) and sensitivity (intensity, irritability, freshness and pleasantness) odour characteristics, as well as 4 tastes to evaluate taste domains (detection and forced choice). RESULTS Healthy women taking hormone contraception felt odours with more intensity (p=0.002) and less irritability (p<0.001) than the historical cohort. TS patients showed a significant impairment in smell memory (p<0.005) and forced-choice (p<0.001) compared with controls taking contraception, whereas no differences were found in odour sensitivity. Detection of taste was successful in 100% of patients. When considering only individual tastes, none of them showed statistically significant differences between groups. CONCLUSION Patients with TS show the impairment of smell but not of taste, compared to OCH and healthy controls taking contraception. Smell sensitivity was not affected.

Postpartum two‐ and three‐dimensional ultrasound evaluation of anal sphincter complex in women with obstetric anal sphincter injury

To compare the sensitivity and specificity of two‐ (2D) and three‐ (3D) dimensional transperineal ultrasound (TPUS) and 3D endovaginal ultrasound (EVUS) with the gold standard 3D endoanal ultrasound (EAUS) in detecting residual defects after primary repair of obstetric anal sphincter injuries (OASIS).

Hearing loss in adult women with Turner’s syndrome and other congenital hypogonadisms

Abstract Objectives: To define the patterns and causes of hearing decline associated to Turner’s syndrome (TS). Methods: An observational study with three cohorts was designed: 31 TS patients, 15 women with other congenital hypogonadims (OCH) and 41 healthy age-matched women taking contraception. Microotoscopy, standard pure-tone audiometry brain auditory evoked potentials (BAEP) were performed to study hearing function. Results: Up to 87% of TS subjects suffered from some degree of hearing loss (HL) in the audiograms, compared with 20% OCH and 27% controls. Sensorineural hearing loss (SNHL) was the most frequent type of hypoacusia found in TS group. BAEP study demonstrated that 61% of TS women showed HL compared to 20% in OCH patients. No significant differences in latencies, amplitudes, and interpeaks of waves I, III and V were found between TS and OCH, nor when compared to reference population. Worse results were observed among the oldest TS patients, those with pure monosomy or isochromosome, and those with a history of recurrent otitis. Conclusions: More than a half of TS females presented HL. SNHL is the most frequent pattern among middle-aged women with TS. Old age, karyotype and recurrent otitis are predisposition factors to produce HL, while oestrogens play a minor role.

Ultrasound-guided transvaginal thrombin injection of uterine arteries pseudoaneurysms

OBJECTIVE To evaluate the utility of transvaginal ultrasound-guided thrombin injection (UGTI) to treat uterine artery pseudoaneurysms (UAPs) as an alternative to emergency arterial embolization. METHODS Two females presenting with heavy vaginal bleeding were diagnosed with UAPs by pelvic CT scan. After UAP identification by transvaginal ultrasound, 2 cm3 of thrombin (Tissucol®; Baxter Healthcare Corporation, Munich, Germany) was slowly injected into the UAPs using a 30-cm long 22-gauge needle through a needle guide attached to the vaginal probe. The same procedure was performed in both cases, and the Doppler sign disappeared immediately and the bleeding stopped. RESULTS We describe two cases of UAPs treated with transvaginal UGTI: one after intrauterine tandem and vaginal colpostat insertion for brachytherapy after diagnosis of cervical cancer (Case 1) and the other after the insertion of a levonorgestrel-releasing intrauterine device (Case 2). CONCLUSION Transvaginal UGTI could be a minimally invasive tool to treat selected cases of UAPs with severe vaginal bleeding. Advances in knowledge: Transvaginal UGTI could avoid the need for uterine embolization and emergency hysterectomy in selected cases of UAPs diagnosed by CT scan.

Comparative cytogenetic analysis in two tissues with different lineage in Turner’s syndrome patients: correlation with phenotype

Abstract Objective: To analyze karyotype of Turner’s syndrome (TS) patients in two tissues of different lineage, and to correlate them with phenotype. Study design: An observational study was designed at the Gynaecological Endocrinology Unit of Hospital Clinic in Barcelona. Patients diagnosed with TS by blood karyotype were included, between 20 and 50 years of age. A new 50-cell count blood karyotype and a urethral cell karyotype from urine samples were performed. Data on some TS-related comorbidities were collected. Results: Twenty-seven TS patients were included. Urine cultures of 12 patients were contaminated by microorganisms. With 50-cell count blood karyotype, three cryptic mosaicisms were found. Six patients with mosaicism in blood karyotype showed pure monosomy in urine karyotype. Correlations exist between blood karyotype and phenotype where spontaneous menarche, height, dysmorphology, congenital malformations and hypothyroidism are concerned, whereas they did not appear in urine analysis. Conclusions: Karyotyping T-lymphocytes in blood samples is the gold standard technique. 50-cell count may be considered if TS or ovarian failure is suspected, in order to detect cryptic mosaicisms. Urethral cell culture from urine samples presents technical difficulties and some limitations, due to the easier lost of abnormal X-chromosome. A partial correlation between blood karyotype and phenotype exists.