Diagnosing polycystic ovary syndrome (PCOS) during adolescence is challenging because features of normal pubertal development overlap with adult diagnostic criteria. The international evidence-based ...PCOS Guideline aimed to promote accurate and timely diagnosis, to optimise consistent care, and to improve health outcomes for adolescents and women with PCOS.
International healthcare professionals, evidence synthesis teams and consumers informed the priorities, reviewed published data and synthesised the recommendations for the Guideline. The Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) framework was applied to appraise the evidence quality and the feasibility, acceptability, cost, implementation and strength of the recommendations.
This paper focuses on the specific adolescent PCOS Guideline recommendations. Specific criteria to improve diagnostic accuracy and avoid over diagnosis include: (1) irregular menstrual cycles defined according to years post-menarche; > 90 days for any one cycle (> 1 year post-menarche), cycles< 21 or > 45 days (> 1 to < 3 years post-menarche); cycles < 21 or > 35 days (> 3 years post-menarche) and primary amenorrhea by age 15 or > 3 years post-thelarche. Irregular menstrual cycles (< 1 year post-menarche) represent normal pubertal transition. (2) Hyperandrogenism defined as hirsutism, severe acne and/or biochemical hyperandrogenaemia confirmed using validated high-quality assays. (3) Pelvic ultrasound not recommended for diagnosis of PCOS within 8 years post menarche. (4) Anti-Müllerian hormone levels not recommended for PCOS diagnosis; and (5) exclusion of other disorders that mimic PCOS. For adolescents who have features of PCOS but do not meet diagnostic criteria an 'at risk' label can be considered with appropriate symptomatic treatment and regular re-evaluations. Menstrual cycle re-evaluation can occur over 3 years post menarche and where only menstrual irregularity or hyperandrogenism are present initially, evaluation with ultrasound can occur after 8 years post menarche. Screening for anxiety and depression is required and assessment of eating disorders warrants consideration. Available data endorse the benefits of healthy lifestyle interventions to prevent excess weight gain and should be recommended. For symptom management, the combined oral contraceptive pill and/or metformin may be beneficial.
Extensive international engagement accompanied by rigorous processes honed both diagnostic criteria and treatment recommendations for PCOS during adolescence.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Objective
To investigate the prevalence of polycystic ovary syndrome and its clinical and hormonal profile in females with type 1 diabetes.
Materials and methods
65 T1DM females were evaluated for ...presence of PCOS by Rotterdam ESHRE/ASRM consensus criteria and compared with age and BMI matched females with PCOS without diabetes and females with T1DM without PCOS.
Results
According to Rotterdam criteria 18/65 (27%) had PCOS. Prevalence of androgen excess, hirsutism, menstrual dysfunction and PCOM was 26%, 3%, 21% and 52%, respectively. Females with T1DM who had PCOS did not differ from females with T1DM without PCOS. When the group of T1DM with PCOS was compared with PCOS females without diabetes, they had significantly lower hirsutism score (median, IQR; 1.5, 0–3 vs. 11.5, 0–16.5,
p
= 0.04), significantly higher waist hip ratio (0.91, 0.89–0.99 vs. 0.86, 0.80–0.89,
p
= 0.004) and SHBG (in nmol, 54.4, 38–86.2 vs. 28.3, 20.4–37.4,
p
= 0.004).
Conclusion
Females with T1DM have a high prevalence of menstrual abnormalities, hyperandrogenism and PCOS which is not related to metabolic control, age of onset of diabetes or insulin dose. Polycystic ovary syndrome, hyperandrogenism, type 1 diabetes, menstrual irregularity, hirsutism.
This paper represents an international collaboration of paediatric endocrine and other societies (listed in the Appendix) under the International Consortium of Paediatric Endocrinology (ICPE) aiming ...to improve worldwide care of adolescent girls with polycystic ovary syndrome (PCOS)1. The manuscript examines pathophysiology and guidelines for the diagnosis and management of PCOS during adolescence. The complex pathophysiology of PCOS involves the interaction of genetic and epigenetic changes, primary ovarian abnormalities, neuroendocrine alterations, and endocrine and metabolic modifiers such as anti-Müllerian hormone, hyperinsulinemia, insulin resistance, adiposity, and adiponectin levels. Appropriate diagnosis of adolescent PCOS should include adequate and careful evaluation of symptoms, such as hirsutism, severe acne, and menstrual irregularities 2 years beyond menarche, and elevated androgen levels. Polycystic ovarian morphology on ultrasound without hyperandrogenism or menstrual irregularities should not be used to diagnose adolescent PCOS. Hyperinsulinemia, insulin resistance, and obesity may be present in adolescents with PCOS, but are not considered to be diagnostic criteria. Treatment of adolescent PCOS should include lifestyle intervention, local therapies, and medications. Insulin sensitizers like metformin and oral contraceptive pills provide short-term benefits on PCOS symptoms. There are limited data on anti-androgens and combined therapies showing additive/synergistic actions for adolescents. Reproductive aspects and transition should be taken into account when managing adolescents.
Since the 2018 ISPAD guidelines on this topic, follow‐up of large cohorts from around the globe have continued informing the current incidence and prevalence of co‐morbidities and complications in ...young adults with youth‐onset type 2 diabetes (T2D). This chapter focuses on the risk factors, diagnosis and presentation of youth‐onset T2D, the initial and subsequent management of youth‐onset T2D, and management of co‐morbidities and complications. We include key updates from the observational phase of the multi‐center Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) clinical trial, the SEARCH for Diabetes in Youth (SEARCH) study and new data from the Restoring Insulin Secretion (RISE) study, a head‐to‐head comparison of youth onset vs adult‐onset T2D. We also include an expanded section on risk factors associated with T2D, algorithms and tables for treatment, management, and assessment of co‐morbidities and complications, and sections on recently approved pharmacologic therapies for the treatment of youth‐onset T2D, social determinants of health, and settings of care given COVID‐19 pandemic.
Polycystic ovary syndrome in adolescents Dabadghao, Preeti
Best Practice & Research Clinical Endocrinology & Metabolism,
June 2019, 2019-06-00, 20190601, Letnik:
33, Številka:
3
Journal Article
Recenzirano
Menstrual irregularity and evidence of hyperandrogenism are characteristic features of polycystic ovary syndrome (PCOS) in adolescents. Diagnosis of PCOS is challenging as clinical features cannot be ...differentiated from the events of normal development. The specific aetiology of PCOS is not known but it is a complex disease resulting from interplay of genetic susceptibility, intrauterine, extra-uterine and environmental factors. Obesity and insulin resistance are common associations, because of which patients are at high risk for metabolic and cardiovascular diseases. Lifestyle modifications are recommended in all patients with pharmacological agents to control features of hyperandrogenism and menstrual disturbances. This chapter discusses the pathogenesis of PCOS and diagnosis of PCOS in adolescents and the difficulties in diagnosis. In brief the associated co-morbidities and management are discussed.
Background: Endocrine causes of hypertension constitute a very small percentage of patients with secondary hypertension. Apparent mineralocorticoid excess (AME) is a rare genetic form of young-onset ...secondary hypertension. Clinical Description: We present a case of a 16-year-old boy who was diagnosed with hypertension at 5 years of age, had recurrent episodes of hypokalemic paralysis, and deranged renal function for 1 year. Hypertension was uncontrollable with multiple antihypertensive agents until an aldosterone antagonist (spironolactone) was added. Clinical history and evaluation could not identify any secondary causes of hypertension. There was no significant family history. Growth and puberty were age-appropriate. Management and Outcome: Endocrine workup was planned considering hypokalemia and metabolic alkalosis. This demonstrated hyporeninemic hypoaldosteronism and raised the possibility of AME and Liddle syndrome. Clinical exome sequencing revealed a probable diagnosis of AME due to a novel homozygous variant (c.911A>G) in HSD11B2 gene. Sanger sequencing confirmed heterozygosity of the same variant in both parents. Conclusion: A novel homozygous variant was found in HSD11B2 gene in a subject with early-onset hypertension associated with hypokalemic metabolic alkalosis, establishing the diagnosis of AME. The use of an algorithmic approach and individualized planning of genetic studies can help in early diagnosis. This helps clinicians to select the appropriate antihypertensive drug, attain good control, and prevent the development of end-organ damage. A high index of suspicion should be kept for AME and other hyporeninemic hypoaldosteronism conditions in the case of early-onset hypertension.
Objective To assess the risk of cardiovascular disease (CVD) in the parents of polycystic ovary syndrome (PCOS) patients using carotid intima medial thickness (CIMT) and brachial artery flow-mediated ...dilatation (FMD). Design Hospital-based case-control study. Setting Endocrine clinic of a medical institute in India. Patient(s) Case group of 41 fathers and 45 mothers of PCOS patients (confirmed by Rotterdam's criteria) compared with 42 men and 44 women matched by age, sex and body mass index (BMI) as controls. Intervention(s) CVD risk in parents of PCOS patients assessed via CIMT and FMD then correlated with various clinical and metabolic parameters. Main Outcome Measure(s) Differences in CIMT and FMD between parents and controls. Result(s) The CIMT was higher 0.6 (0.54–0.8) vs. 0.5 (0.45–0.55) mm and brachial artery FMD was lower 11.9% (6.9%–16.2%) vs. 16.7% (13.5%–22.6%) in the parents of PCOS patients as compared with the controls. Systolic blood pressure, diastolic blood pressure, low-density lipoprotein cholesterol, and fasting and 2-hour plasma glucose were higher in the parents of the PCOS patients. The prevalence of CVD risk factors such as systemic hypertension, diabetes mellitus, abdominal obesity, the metabolic syndrome, and a family history of coronary artery disease in first-degree relatives was also higher in the parents of PCOS patients. The prevalence of diabetes was higher in the fathers of PCOS women, but other cardiovascular disease risk factors, CIMT, and FMD were comparable among the mothers. Conclusion(s) The parents of PCOS patients have an increased CVD risk as evidenced by increased CIMT and low FMD.
Bronchial carcinoid is the most common primary malignant lung tumor in children; however, it remains a very rare diagnosis due to the overall low incidence of childhood lung malignancies. We report a ...case of a 17-year-old girl with respiratory symptoms who was initially misdiagnosed as a case of COVID pneumonia. She was later detected to have a right mainstem bronchial carcinoid which was managed successfully by a multi-disciplinary team.
Background
Von Hippel–Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in VHL gene. It is characterized by the formation of benign and malignant tumors like retinal angioma, ...cerebellar hemangioblastoma, spinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic and renal cysts, and endolymphatic sac tumors. Germline mutations in VHL gene have also been reported in isolated VHL-associated tumors. VHL gene is a small gene with 3 coding exons and can be easily tested even in a resource constraint setting.
Objective
To describe clinical presentation and estimate the diagnostic yield of in VHL and VHL-associated tumors.
Methods
This is a descriptive study in a hospital setting. Here, we describe the clinical and molecular data of 69 patients with suspected VHL or having VHL-associated tumors. Sanger sequencing of coding sequences and conserved splice sites of VHL gene were done in all patients. Multiplex ligation-dependent probe amplification (MLPA) of VHL gene to detect large deletions/duplications was performed for 18 patients with no pathogenic sequence variations.
Results
Among tumor types at presentation, pheochromocytoma was seen in 49% (34/69), hemangioblastoma was seen in 30% (21/69), and renal cell carcinoma was seen in 7% (5/69). Rest had other tumors like paraganglioma, endolymphatic sac papillary tumors, cerebellar astrocytoma and pancreatic cyst. Seven patients (10%) had more than one tumor at the time of diagnosis. Pathogenic variations in VHL gene were identified in 31probands by Sanger sequencing; 18 were missense, 2 nonsense and 2 small indels. A heterozygous deletion of exon 3 was detected by MLPA in one patient among 18 patients for whom MLPA was done. Overall, the molecular yield was 46% cases (32/69). Family history was present in 7 mutation positive cases (22%). Overall, 11 families (16%) opted for pre-symptomatic mutation testing in the family.
Conclusions
Mutation testing is indicated in VHL and VHL-associated tumors. The testing facility is easy and can be adopted easily in developing countries like India. The yield is good, and with fairly high incidence of familial cases, molecular testing can help in pre-symptomatic testing and surveillance.
Background Cardiovascular (CV) dysfunction and cardiomyopathy can cause perioperative morbidity in pheochromocytoma patients, but have not been studied systematically. This prospective, case-control ...study evaluated nature and extent of CV dysfunctions and their reversal following curative pheochromocytoma surgery. Methods Thirty-five pheochromocytoma patients, 9 normotensive nonpheochromocytoma adrenal tumors and 10 essential hypertensives were evaluated with 2-dimensional echocardiography, tissue Doppler, and serum N-terminal pro-brain natriuretic peptide (s-NTpro-BNP, a sensitive myocardial damage biomarker) serially before and after treatment. Results Pheochromocytoma patients had systolic and diastolic dysfunction, reduced left ventricular (LV) ejection fraction (EF), increased LV end-diastolic and systolic dimensions and volumes, myocardial performance index, and decreased transmitral early/late velocity ratio, which were worse compared with controls. All indices improved significantly with α-blockade and after pheochromocytoma resection, and normalized over 3-6 months. Tissue Doppler early velocity was lower ( P = .04) and s-NT-proBNP higher ( P = .0001) in pheochromocytoma patients compared with controls. Seven pheochromocytoma patients (20%) had significant LV dysfunction (LVEF <45%; s-NTpro-BNP levels >500 pg/mL) and had more marked postoperative improvement. Conclusion Global LV diastolic and systolic dysfunctions specific to pheochromocytoma are common and improve early postoperatively, with sustained improvement upon follow-up. Detailed cardiac evaluation with echocardiography, tissue Doppler, and s-NTpro-BNP may help to reduce perioperative morbidity and monitor recovery in pheochromocytoma patients.
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