Search Results
You are looking at 101 - 110 of 479 items for
- Abstract: amenorrhoea x
- Abstract: fertility x
- Abstract: Gender x
- Abstract: Hypogonadism x
- Abstract: infertility x
- Abstract: Kallmann x
- Abstract: Klinefelter x
- Abstract: menarche x
- Abstract: menopause x
- Abstract: puberty x
- Abstract: testes x
- Abstract: transsexual x
- Abstract: Turner x
- Abstract: ovary x
- Abstract: follicles x
Search for other papers by Thozhukat Sathyapalan in
Google Scholar
PubMed
Search for other papers by Anne-Marie Coady in
Google Scholar
PubMed
Search for other papers by Eric S Kilpatrick in
Google Scholar
PubMed
Search for other papers by Stephen L Atkin in
Google Scholar
PubMed
Background
There is an increased risk of developing T2DM in women with polycystic ovary syndrome (PCOS), and there is evidence that statins improve metabolic parameters in these patients. However, there are some data to show that statins increase the risk of incipient diabetes.
Materials and methods
We have previously shown that 12 weeks of atorvastatin improves insulin resistance when measured using HOMA-IR. This post hoc analysis was designed to look at the effect of atorvastatin on pancreatic β cell function using HOMA-β in the same study. In this randomised, double-blind placebo controlled study, 40 medication-naïve patients with PCOS were randomised to either atorvastatin 20 mg daily or placebo for 3 months. A 3-month extension study for both groups of patients was undertaken with metformin 1500 mg daily after completing initial 3 months of atorvastatin or placebo.
Results
There was a significant reduction in HOMA-β (240 ± 3.2 vs 177 ± 2.3; P value <0.01) after 12 weeks of atorvastatin treatment, which was maintained by metformin in the subsequent 12 weeks. There were no changes in HOMA-β after the placebo or after subsequent metformin treatment.
There was no linear correlation between reduction in HOMA-β with improvement of free androgen index (FAI) (r 2 = 0.02; P = 0.72), testosterone (r 2 = 0.13; P = 0.49), SHBG (r 2 = 0.22; P = 0.48), hsCRP (r 2 = 0.19; P = 0.64), triglycerides (r 2 = 0.09; P = 0.12), total cholesterol (r 2 = 0.11; P = 0.32) or LDL-C (r 2 = 0.19; P = 0.38).
Conclusion
Treatment with atorvastatin for 12 weeks in women with PCOS significantly reduced HOMA-β. This could be potentially due to fall in β-cell requirement with improvement of insulin resistance rather than a reduction of β-cell function.
Search for other papers by Stavroula A Paschou in
Google Scholar
PubMed
Search for other papers by Eleni Palioura in
Google Scholar
PubMed
Search for other papers by Dimitrios Ioannidis in
Google Scholar
PubMed
Search for other papers by Panagiotis Anagnostis in
Google Scholar
PubMed
Search for other papers by Argyro Panagiotakou in
Google Scholar
PubMed
Search for other papers by Vasiliki Loi in
Google Scholar
PubMed
Search for other papers by Georgios Karageorgos in
Google Scholar
PubMed
Search for other papers by Dimitrios G Goulis in
Google Scholar
PubMed
Search for other papers by Andromachi Vryonidou in
Google Scholar
PubMed
Objective
The aim of this study was to investigate the impact of adrenal hyperandrogenism on insulin resistance and lipid profile in women with polycystic ovary syndrome (PCOS).
Patients and methods
We studied 372 women with PCOS according to the NIH criteria. 232 age- and BMI-matched women served as controls in order to define adrenal hyperandrogenism (DHEA-S >95th percentile). Then, patients with PCOS were classified into two groups: with adrenal hyperandrogenism (PCOS-AH, n = 108) and without adrenal hyperandrogenism (PCOS-NAH, n = 264). Anthropometric measurements were recorded. Fasting plasma glucose, insulin, lipid profile, sex hormone-binding globulin (SHBG) and androgen (TT, Δ4A, DHEA-S) concentrations were assessed. Free androgen index (FAI) and homeostatic model assessment-insulin resistance (HOMA-IR) index were calculated.
Results
Women with PCOS-AH were younger than PCOS-NAH (P < 0.001), but did not differ in the degree and type of obesity. No differences were found in HOMA-IR, total cholesterol, HDL-c, LDL-c and triglyceride concentrations (in all comparisons, P > 0.05). These metabolic parameters did not differ between the two groups even after correction for age. Women with PCOS-AH had lower SHBG (29.2 ± 13.8 vs 32.4 ± 11.8 nmol/L, P = 0.025) and higher TT (1.0 ± 0.2 vs 0.8 ± 0.4 ng/mL, P = 0.05) and Δ4A (3.9 ± 1.2 vs 3.4 ± 1.0 ng/mL, P = 0.007) concentrations, as well as FAI (14.1 ± 8.0 vs 10.2 ± 5.0, P < 0.001). These results were confirmed by a multiple regression analysis model in which adrenal hyperandrogenism was negatively associated with age (P < 0.001) and SHBG concentrations (P = 0.02), but not with any metabolic parameter.
Conclusions
Women with PCOS and adrenal hyperandrogenism do not exhibit any deterioration in insulin resistance and lipid profile despite the higher degree of total androgens.
Search for other papers by Vittorio Unfer in
Google Scholar
PubMed
Search for other papers by Fabio Facchinetti in
Google Scholar
PubMed
Search for other papers by Beatrice Orrù in
Google Scholar
PubMed
Search for other papers by Barbara Giordani in
Google Scholar
PubMed
Search for other papers by John Nestler in
Google Scholar
PubMed
Myo-inositol (MI) supplementation in women with polycystic ovary syndrome (PCOS) has been evaluated over the last years. Many hormonal and reproductive impairments associated with this disorder seem relieved by the supplement. The objective of the meta-analysis was to assess the effects of MI alone or combined with d-chiro-inositol (DCI) on the endocrine and metabolic abnormalities of women with PCOS. Literature was retrieved from selected databases, MEDLINE, EMBASE, PubMed and Research Gate (up to November 2016). Only randomized controlled trials (RCTs) investigating the effects of MI alone or combined with DCI were reviewed. Nine RCTs involving 247 cases and 249 controls were included. Significant decreases in fasting insulin (SMD = −1.021 µU/mL, 95% CI: −1.791 to −0.251, P = 0.009) and homeostasis model assessment (HOMA) index (SMD = −0.585, 95% CI: −1.145 to −0.025, P = 0.041) were identified after MI supplementation. The trial sequential analysis of insulin meta-analysis illustrates that the cumulative z-curve crossed the monitoring boundary, providing firm evidence of the intervention effect. A slight trend toward a reduction of testosterone concentration by MI with respect to controls was found (SMD = −0.49, 95% CI: −1.072 to 0.092, P = 0.099), whereas androstenedione levels remained unaffected. Throughout a subgroup’s meta-analysis, a significant increase in serum SHBG was observed only in those studies where MI was administered for at least 24 weeks (SMD = 0.425 nmol/L, 95% CI: 0.050–0.801, P = 0.026). These results highlight the beneficial effect of MI in improving the metabolic profile of women with PCOS, concomitantly reducing their hyperandrogenism.
Faculty of Health and Medical Sciences, Copenhagen University, Copenhagen, Denmark
Search for other papers by Signe Frøssing in
Google Scholar
PubMed
Department of Obstetrics & Gynecology, Herlev Gentofte Hospital, Copenhagen, Denmark
Search for other papers by Malin Nylander in
Google Scholar
PubMed
Faculty of Health and Medical Sciences, Copenhagen University, Copenhagen, Denmark
Search for other papers by Caroline Kistorp in
Google Scholar
PubMed
Department of Obstetrics & Gynecology, Herlev Gentofte Hospital, Copenhagen, Denmark
Search for other papers by Sven O Skouby in
Google Scholar
PubMed
Faculty of Health and Medical Sciences, Copenhagen University, Copenhagen, Denmark
Search for other papers by Jens Faber in
Google Scholar
PubMed
Context
Women with polycystic ovary syndrome (PCOS) have an increased risk of cardiovascular disease (CVD), and biomarkers can be used to detect early subclinical CVD. Midregional-pro-adrenomedullin (MR-proADM), midregional-pro-atrial natriuretic peptide (MR-proANP) and copeptin are all associated with CVD and part of the delicate system controlling fluid and hemodynamic homeostasis through vascular tonus and diuresis. The GLP-1 receptor agonist liraglutide, developed for treatment of type 2 diabetes (T2D), improves cardiovascular outcomes in patients with T2D including a decrease in particular MR-proANP.
Objective
To investigate if treatment with liraglutide in women with PCOS reduces levels of the cardiovascular biomarkers MR-proADM, MR-proANP and copeptin.
Methods
Seventy-two overweight women with PCOS were treated with 1.8 mg/day liraglutide or placebo for 26 weeks in a placebo-controlled RCT. Biomarkers, anthropometrics, insulin resistance, body composition (DXA) and visceral fat (MRI) were examined.
Results
Baseline median (IQR) levels were as follows: MR-proADM 0.52 (0.45–0.56) nmol/L, MR-proANP 44.8 (34.6–56.7) pmol/L and copeptin 4.95 (3.50–6.50) pmol/L. Mean percentage differences (95% CI) between liraglutide and placebo group after treatment were as follows: MR-proADM −6% (−11 to 2, P = 0.058), MR-proANP −25% (−37 to −11, P = 0.001) and copeptin +4% (−13 to 25, P = 0.64). Reduction in MR-proANP concentration correlated with both increased heart rate and diastolic blood pressure in the liraglutide group. Multiple regression analyses with adjustment for BMI, free testosterone, insulin resistance, visceral fat, heart rate and eGFR showed reductions in MR-proANP to be independently correlated with an increase in the heart rate.
Conclusion
In an RCT, liraglutide treatment in women with PCOS reduced levels of the cardiovascular risk biomarkers MR-proANP with 25% and MR-proADM with 6% (borderline significance) compared with placebo. The decrease in MR-proANP was independently associated with an increase in the heart rate.
Search for other papers by Małgorzata Kałużna in
Google Scholar
PubMed
Search for other papers by Pola Kompf in
Google Scholar
PubMed
Search for other papers by Katarzyna Wachowiak-Ochmańska in
Google Scholar
PubMed
Search for other papers by Jerzy Moczko in
Google Scholar
PubMed
Search for other papers by Aleksandra Królczyk in
Google Scholar
PubMed
Search for other papers by Adam Janicki in
Google Scholar
PubMed
Search for other papers by Karol Szapel in
Google Scholar
PubMed
Search for other papers by Marian Grzymisławski in
Google Scholar
PubMed
Search for other papers by Marek Ruchała in
Google Scholar
PubMed
Search for other papers by Katarzyna Ziemnicka in
Google Scholar
PubMed
Background
Polycystic ovary syndrome (PCOS) encompasses endocrine, reproductive and metabolic disturbances. Abdominal pain and bowel movement disturbances are common complaints of PCOS patients. It remains uncertain whether the characteristic features of PCOS are associated with an increased incidence of irritable bowel syndrome (IBS).
Methods
In the study, 133 patients with PCOS diagnosed according to international evidence-based guidelines and 72 age- and BMI-matched eumenorrheic controls were enrolled. Anthropometric measurements and biochemical and hormonal characteristics were collected. The Rome IV criteria were used for IBS diagnosis. Quality of life (QoL) and depressive symptoms were also assessed.
Results
IBS symptom prevalence in PCOS was not significantly different than in controls. Hyperandrogenism and simple and visceral obesity did not appear to affect IBS prevalence in PCOS. There were no anthropometric, hormonal or biochemical differences between IBS-PCOS and non-IBS-PCOS patients, apart from IBS-PCOS patients being slightly older and having lower thyroid-stimulating hormone. Metabolic syndrome (MS) prevalence was higher in IBS-PCOS than non-IBS-PCOS. QoL appears to be significantly lower in IBS-PCOS compared to PCOS-only patients. The occurrence of depression was higher in IBS-PCOS vs non-IBS-PCOS patients. At least one alarm symptom was reported by 87.5% of IBS-PCOS; overall, this group experienced more alarm symptoms than the IBS-only group.
Conclusions
Since a link between PCOS and IBS comorbidity and increased MS prevalence was noted, patients presenting with both conditions may benefit from early MS diagnostics and management. The high incidence of alarm symptoms in PCOS women in this study highlights the need for differential diagnosis of organic diseases that could mimic IBS symptoms.
Search for other papers by Rachel Forfar in
Google Scholar
PubMed
Search for other papers by Mashal Hussain in
Google Scholar
PubMed
Search for other papers by Puneet Khurana in
Google Scholar
PubMed
Search for other papers by Jennifer Cook in
Google Scholar
PubMed
Search for other papers by Steve Lewis in
Google Scholar
PubMed
Search for other papers by Dillon Popat in
Google Scholar
PubMed
Search for other papers by David Jackson in
Google Scholar
PubMed
Search for other papers by Ed McIver in
Google Scholar
PubMed
Search for other papers by Jeff Jerman in
Google Scholar
PubMed
Search for other papers by Debra Taylor in
Google Scholar
PubMed
Search for other papers by Adrian JL Clark in
Google Scholar
PubMed
Search for other papers by Li F Chan in
Google Scholar
PubMed
The overproduction of adrenocorticotropic hormone (ACTH), in conditions such as Cushing’s disease and congenital adrenal hyperplasia (CAH), leads to significant morbidity. Current treatment with glucocorticoids does not adequately suppress plasma ACTH, resulting in excess adrenal androgen production. At present, there is no effective medical treatment in clinical use that would directly block the action of ACTH. Such a therapy would be of great clinical value. ACTH acts via a highly selective receptor, the melanocortin-2 receptor (MC2R) associated with its accessory protein MRAP. ACTH is the only known naturally occurring agonist for this receptor. This lack of redundancy and the high degree of ligand specificity suggest that antagonism of this receptor could provide a useful therapeutic strategy in the treatment of conditions of ACTH excess. To this end, we screened an extensive library of low-molecular-weight drug-like compounds for MC2R antagonist activity using a high-throughput homogeneous time-resolved fluorescence cAMP assay in Chinese hamster ovary cells stably co-expressing human MC2R and MRAP. Hits that demonstrated MC2R antagonist properties were counter-screened against the β2 adrenergic receptor and dose–response analysis undertaken. This led to the identification of a highly specific MC2R antagonist capable of antagonising ACTH-induced progesterone release in murine Y-1 adrenal cells and having selectivity for MC2R amongst the human melanocortin receptors. This work provides a foundation for the clinical investigation of small-molecule ACTH antagonists as therapeutic agents and proof of concept for the screening and discovery of such compounds.
Search for other papers by Meghnaa Hebbar in
Google Scholar
PubMed
Search for other papers by Halimah Khalil in
Google Scholar
PubMed
Search for other papers by Nawal Zia in
Google Scholar
PubMed
Search for other papers by Jameela Sheikh in
Google Scholar
PubMed
Search for other papers by Eka Melson in
Google Scholar
PubMed
Search for other papers by Meri Davitadze in
Google Scholar
PubMed
Search for other papers by Helena Gleeson in
Google Scholar
PubMed
Search for other papers by Tejal Lathia in
Google Scholar
PubMed
Search for other papers by Chitra Selvan in
Google Scholar
PubMed
Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom
Search for other papers by Punith Kempegowda in
Google Scholar
PubMed
Search for other papers by PCOS SEva Working Group in
Google Scholar
PubMed
With increasing evidence of emotional well-being disorders associated with polycystic ovary syndrome (PCOS), effective screening processes are of utmost importance. We studied the impact of using questionnaires to screen for emotional and psychosexual well-being across different models of care for PCOS. We analysed the data from the surveys to assess the difference in the prevalence of emotional and psychosexual ill-being across ethnicity and region. In this prospective cohort study, we invited all women attending consultations for PCOS in Birmingham, UK, and Bengaluru and Navi Mumbai, India. Those who consented to participate in the study were invited to complete a pre-clinic survey about socio-demographic data, Hospital Anxiety and Depression Scale (HADS), Body Image Concern Inventory (BICI), Beliefs about Obese Person scale (BAOP), and Female Sexual Function Index score (FSFI) and a post-clinic survey on clinic experience, lifestyle advice, and specialist referral. A total of 115 women were included in this study. The rate of questionnaire completion was 98.3% (113/115), 97.4% (112/115), 93.04% (107/115), and 84.3% (97/115) for HADS, BICI, BAOP, and FSFI, respectively. In the post-clinic survey, 28.8% reported they were screened for anxiety, 27.1% for depression, and 45.8% for body image concerns. The prevalence of anxiety, depression, and body dysmorphic disorder through pre-clinic survey was 56.5% (50.0% UK vs 59.5% India, P = 0.483), 16.5% (13.9% UK vs 17.7% India, P = 0.529), and 29.6% (36.1% UK vs 26.6% India, P = 0.208), respectively. Surveys with validated questionnaires can improve screening for emotional and psychosexual well-being associated with PCOS which may be missed by ad hoc screening during consultations.
Search for other papers by Xiying Zeng in
Google Scholar
PubMed
Search for other papers by Yinxiang Huang in
Google Scholar
PubMed
Search for other papers by Mulin Zhang in
Google Scholar
PubMed
Search for other papers by Yun Chen in
Google Scholar
PubMed
Search for other papers by Jiawen Ye in
Google Scholar
PubMed
Search for other papers by Yan Han in
Google Scholar
PubMed
Search for other papers by Danyan Ma in
Google Scholar
PubMed
Search for other papers by Xin Zheng in
Google Scholar
PubMed
Search for other papers by Xiaohong Yan in
Google Scholar
PubMed
Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China
Fujian Province Key Laboratory of Diabetes Translational Medicine, Xiamen, China
Search for other papers by Changqin Liu in
Google Scholar
PubMed
Objective
Anti-Müllerian hormone (AMH) is recognized as the most important biomarker for ovarian reserve. In this cross-sectional study, we aimed to explore the potential association of AMH with central obesity or general obesity in women with polycystic ovary syndrome (PCOS).
Methods
In this cross-sectional study, 179 patients with PCOS were enrolled and underwent anthropometric measurements (BMI and waist circumference (WC)) and serum AMH level detection. Pearson’s correlation and multivariable logistic regression analyses were performed to determine the associations of AMH with central obesity and general obesity.
Results
Subjects with increasing BMI showed significantly lower values of AMH (median (interquartile range (IQR)) 8.95 (6.03–13.60) ng/mL in normal weight group, 6.57 (4.18–8.77) ng/mL in overweight group, and 6.03 (4.34–9.44) ng/mL in obesity group, P = 0.001), but higher levels of systolic blood pressure, fasting insulin, total cholesterol, triglycerides, LDL-c, obesity indices (WC, hip circumferences, waist-to-hip ratio, waist-to-height ratio (WHtR), and Chinese visceral adiposity index (CVAI)). Compared with the group of PCOS women without central obesity, the group with central obesity had significantly lower value of AMH (median (IQR) 8.56 (5.29–12.96) ng/mL vs 6.22 (4.33–8.82) ng/mL; P = 0.003). Pearson’s correlation analysis showed that AMH was significantly and negatively correlated with BMI (r = −0.280; P < 0.001), WC (r = −0.263; P < 0.001), WHtR (r = −0.273; P < 0.001), and CVAI (r = −0.211; P = 0.006). Multivariate logistic regression analysis with adjustment for potential confounding factors showed that AMH was independently and negatively associated with central obesity but was not significantly associated with general obesity.
Conclusions
AMH was independently and negatively associated with central obesity. Closely monitoring the WC and AMH should be addressed in terms of assessing ovarian reserve in women with PCOS.
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Search for other papers by Srdjan Pandurevic in
Google Scholar
PubMed
Unit of Gynecology and Obstetrics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy
Search for other papers by Ilaria Mancini in
Google Scholar
PubMed
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Search for other papers by Dimitri Mitselman in
Google Scholar
PubMed
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Search for other papers by Matteo Magagnoli in
Google Scholar
PubMed
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Search for other papers by Rita Teglia in
Google Scholar
PubMed
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Search for other papers by Roberta Fazzeri in
Google Scholar
PubMed
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Search for other papers by Paola Dionese in
Google Scholar
PubMed
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Search for other papers by Carolina Cecchetti in
Google Scholar
PubMed
Laboratory of Cardiovascular Endocrinology, IRCCS San Raffaele, Rome, Italy
Search for other papers by Massimiliamo Caprio in
Google Scholar
PubMed
Search for other papers by Costanzo Moretti in
Google Scholar
PubMed
Search for other papers by Justyna Sicinska in
Google Scholar
PubMed
Search for other papers by Alessandro Agostini in
Google Scholar
PubMed
Search for other papers by Domenica Gazineo in
Google Scholar
PubMed
Search for other papers by Lea Godino in
Google Scholar
PubMed
Medical Department Pronokal Group, Barcelona, Spain
Search for other papers by Ignacio Sajoux in
Google Scholar
PubMed
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Search for other papers by Flaminia Fanelli in
Google Scholar
PubMed
Unit of Gynecology and Obstetrics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy
Search for other papers by Cristina M Meriggiola in
Google Scholar
PubMed
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Search for other papers by Uberto Pagotto in
Google Scholar
PubMed
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Search for other papers by Alessandra Gambineri in
Google Scholar
PubMed
Objective
The aim of this study isto assess the efficacy of a very low-calorie ketogenic diet (VLCKD) method vs a Mediterranean low-calorie diet (LCD) in obese polycystic ovary syndrome (PCOS) women of a reproductive age.
Design
Randomized controlled open-label trial was performed in this study. The treatment period was 16 weeks; VLCKD for 8 weeks then LCD for 8 weeks, according to the Pronokal® method (experimental group; n = 15) vs Mediterranean LCD for 16 weeks (control group; n = 15). Ovulation monitoring was carried out at baseline and after 16 weeks, while a clinical exam, bioelectrical impedance analysis (BIA), anthropometry, and biochemical analyses were performed at baseline, at week 8, and at week 16.
Results
BMI decreased significantly in both groups and to a major extent in the experimental group (−13.7% vs −5.1%, P = 0.0003). Significant differences between the experimental and the control groups were also observed in the reduction of waist circumference (−11.4% vs −2.9%), BIA-measured body fat (−24.0% vs −8.1%), and free testosterone (−30.4% vs −12.6%) after 16 weeks (P = 0.0008, P = 0.0176, and P = 0.0009, respectively). Homeostatic model assessment for insulin resistance significantly decreased only in the experimental group (P = 0.0238) but without significant differences with respect to the control group (−23% vs −13.2%, P > 0.05). At baseline, 38.5% of participants in the experimental group and 14.3% of participants in the control group had ovulation, which increased to 84.6% (P = 0.031) and 35.7% (P > 0.05) at the end of the study, respectively.
Conclusion
In obese PCOS patients, 16 weeks of VLCKD protocol with the Pronokal® method was more effective than Mediterranean LCD in reducing total and visceral fat, and in ameliorating hyperandrogenism and ovulatory dysfunction.
Significance statements
To the best of our knowledge, this is the first randomized controlled trial on the use of the VLCKD method in obese PCOS. It demonstrates the superiority of VLCKD with respect to Mediterranean LCD in reducing BMI with an almost selective reduction of fat mass and a unique effect of VLCKD in reducing visceral adiposity, insulin resistance, and in increasing SHBG with a consequent reduction of free testosterone. Interestingly, this study also demonstrates the superiority of the VLCKD protocol in improving ovulation, whose occurrence increased by 46.1% in the group treated by the VLCKD method against a rise of 21.4% in the group treated by Mediterranean LCD. This study extends the therapeutic approach possibilities in obese PCOS women.
Search for other papers by Bruno Donadille in
Google Scholar
PubMed
Search for other papers by Muriel Houang in
Google Scholar
PubMed
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
Search for other papers by Irène Netchine in
Google Scholar
PubMed
INSERM UMR_S933, Paris, France
Search for other papers by Jean-Pierre Siffroi in
Google Scholar
PubMed
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France
Search for other papers by Sophie Christin-Maitre in
Google Scholar
PubMed
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available concerning adult testicular function in such patients. We had the opportunity to study gonadal axis and testicular function in a 46,XY adult patient, carrying a HSD3B2 mutation. He presented at birth a neonatal salt-wasting syndrome. He had a micropenis, a perineal hypospadias and two intrascrotal testes. HSD3B2 gene sequencing revealed a 687del27 homozygous mutation. The patient achieved normal puberty at the age of 15 years. Transition from the paediatric department occurred at the age of 19 years. His hormonal profile under hydrocortisone and fludrocortisone treatments revealed normal serum levels of 17OH-pregnenolone, as well as SDHEA, ACTH, total testosterone, inhibin B and AMH. Pelvic ultrasound identified two scrotal testes of 21 mL each, without any testicular adrenal rest tumours. His adult spermatic characteristics were normal, according to WHO 2010 criteria, with a sperm concentration of 57.6 million/mL (N > 15), 21% of typical forms (N > 4%). Sperm vitality was subnormal (41%; N > 58%). This patient, in contrast to previous reports, presents subnormal sperm parameters and therefore potential male fertility in a 24-years-old patient with severe 3b-HSD deficiency. This case should improve counselling about fertility of male patients carrying HSD3B2 mutation.
