Complete aromatase deficiency in four adult men: detection of a novel mutation and two known mutations in the CYP19A1 gene

The abstracts descibes four new cases of patients with aromatase deficiency. Both the clinical features and the results of the molecular studies are reported

Polycystic ovary syndrome: a complex condition with psychological, reproductive and metabolic manifestations that impacts on health across the lifespan

Polycystic ovary syndrome (PCOS) is of clinical and public health importance as it is very common, affecting up to one in five women of reproductive age. It has significant and diverse clinical implications including reproductive (infertility, hyperandrogenism, hirsutism), metabolic (insulin resistance, impaired glucose tolerance, type 2 diabetes mellitus, adverse cardiovascular risk profiles) and psychological features (increased anxiety, depression and worsened quality of life). Polycystic ovary syndrome is a heterogeneous condition and, as such, clinical and research agendas are broad and involve many disciplines. The phenotype varies widely depending on life stage, genotype, ethnicity and environmental factors including lifestyle and bodyweight. Importantly, PCOS has unique interactions with the ever increasing obesity prevalence worldwide as obesity-induced insulin resistance significantly exacerbates all the features of PCOS. Furthermore, it has clinical implications across the lifespan and is relevant to related family members with an increased risk for metabolic conditions reported in first-degree relatives. Therapy should focus on both the short and long-term reproductive, metabolic and psychological features. Given the aetiological role of insulin resistance and the impact of obesity on both hyperinsulinaemia and hyperandrogenism, multidisciplinary lifestyle improvement aimed at normalising insulin resistance, improving androgen status and aiding weight management is recognised as a crucial initial treatment strategy. Modest weight loss of 5% to 10% of initial body weight has been demonstrated to improve many of the features of PCOS. Management should focus on support, education, addressing psychological factors and strongly emphasising healthy lifestyle with targeted medical therapy as required. Monitoring and management of long-term metabolic complications is also an important part of routine clinical care. Comprehensive evidence-based guidelines are needed to aid early diagnosis, appropriate investigation, regular screening and treatment of this common condition. Whilst reproductive features of PCOS are well recognised and are covered here, this review focuses primarily on the less appreciated cardiometabolic and psychological features of PCOS

The investigation of insulin resistance in patients with idiopathic hirsutism

Hirsutism, which is characterized by excessive growth of terminal hair in a male pattern, is a common clinical condition in women. It may result from various causes including polycystic ovary syndrome, nonclassic adrenal hyperplasia, adrenal or ovarian tumors, or it may be idiopathic. Idiopathic hirsutism (IH) is considered to be one of the most common forms of hirsutism. Although not universal, insulin resistance and hyperinsulinemia have been demonstrated in women with polycystic ovary syndrome. Because there are not enough data showing whether patients with IH also have insulin resistance, we intended to investigate the presence/ absence of insulin resistance in women with IH. Thirty-two women with IH [ mean age, 24.8 +/- 1.2 yr; body mass index (BMI), 24.6 +/- 0.8 kg/m(2)] and 17 healthy women (mean age, 25.8 +/- 0.6 yr; BMI, 22.5 +/- 0.6 kg/m(2)) were included in the study. Eight of 32 patients with IH had BMI higher than 30 kg/m(2). The presence of insulin resistance was investigated by using basal insulin levels, the oral glucose tolerance test, the iv insulin tolerance test, and the homeostasis model assessment(HOMA) score in both groups. Six (18.7%) patients had impaired glucose tolerance (IGT). Overall, patients with IH had significantly (P< 0.05) higher basal insulin levels (10.5 +/- 1.1 mU/liter vs. 5.7 +/- 0.9 mU/liter) and HOMA scores (2.0 +/- 0.2 vs. 1.1 +/- 0.2) and lower plasma glucose disappearance rate values (5.2 +/- 0.2 vs. 6.0 +/- 0.3) than control subjects. However, patients with IGT were notably more obese than the patients with a normal glucose tolerance test. Analyses after omitting the patients with IGT showed that there was still a significant ( P < 0.05) difference in terms of basal insulin levels and HOMA scores. Six of eight (75%) obese patients with IH showed IGT. These data suggest that IH is associated with insulin resistance and an increased prevalence of IGT in obese patients

Non polycystic ovary syndrome-related endocrine disorders associated with hirsutism

Background Hyperandrogenism refers to classical androgen-dependent signs such as hirsutism, acne and androgenetic alopecia. Hirsutism is the main hyperandrogenic symptom, defined as an excess of body hair in the androgen-sensitive skin regions of the women. In this review, we attempt to focus on the pathogenesis of hirsutism related to disorders other than polycystic ovary syndrome (PCOS). Also, we will discuss their clinical and biochemical features as well as therapeutic options. Design Several original articles, meta-analysis and reviews have been screened in the field of hirsutism and hyperandrogenic disorders. Results Current English literature including our studies suggests that PCOS is the most common cause of hirsutism. The most important purpose for investigation is to identify those women with androgen-secreting tumours because of their life-threatening potential. In approximately 1-8% of the women with hirsutism, the underlying cause is nonclassical adrenal hyperplasia because of 21-hydroxylase deficiency. Depending on ethnicity and the geographic area, idiopathic hirsutism constitutes 5-17% of the patients with hirsutism. Approximately 3% of hyperandrogenic women were observed to suffer from hyperandrogenic-insulin-resistant acanthosis nigricans syndrome. More rare causes are glucocorticoid resistance syndrome, hyperprolactinemia, acromegaly, Cushing&apos;s syndrome and some drugs. Specific causes of hirsutism such as Cushing&apos;s syndrome and adrenal/ovarian tumours should be treated specifically. In other patients, pharmacological approach is the mainstay of therapy. Conclusions A number of patients presenting with hirsutism and exhibiting similar features to PCOS may have other underlying diagnoses. Unlike PCOS, some of these disorders can occasionally be life threatening and require prompt diagnosis and treatment. © 2011 The Authors. European Journal of Clinical Investigation © 2011 Stichting European Society for Clinical Investigation Journal Foundation

The treatment of insulin resistance does not improve adrenal cytochrome P450c17 alpha enzyme dysregulation in polycystic ovary syndrome

Objective: To determine whether metformin, when given to non-diabetic women with polycystic ovary syndrome (PCOS), results in a reduction of insulin resistance and hyperinsulinemia while body weight is maintained. Also we aimed to see whether the reduction in insulin levels attenuates the activity of adrenal P450c17 alpha enzyme in patients with PCOS

The hypothalamo-pituitary-adrenal axis in chronic fatigue syndrome and fibromyalgia syndrome

The hypothalamo-pituitary-adrenal (HPA) axis plays a major role in the regulation of responses to stress. Human stress-related disorders such as chronic fatigue syndrome (CFS), fibromyalgia syndrome (FMS), chronic pelvic pain and posttraumatic stress disorder are characterized by alterations in HPA axis activity. However, the role of the HPA axis alterations in these stress-related disorders is not clear. Most studies have shown that the HPA axis is underactive in the stress-related disorders, but contradictory results have also been reported, which may be due to the patients selected for the study, the methods used for the investigation of the HPA axis, the stage of the syndrome when the tests have been done and the interpretation of the results. There is no structural abnormality in the endocrine organs which comprise the HPA axis, thus it seems that hypocortisolemia found in the patients with stress-related disorder is functional. It may be also an adaptive response of the body to chronic stress. In this review, tests used in the assessment of HPA axis function and the HPA axis alterations found in CFS and FMS are discussed in detail

Value of Argyrophilic Nucleolar Organizing Region Protein Determinations in Nondiagnostic Fine Needle Aspiration Samples (Due to Insufficient Cell Groups) of Thyroid Nodules

OBJECTIVE: To evaluate the diagnostic value of argyrophilic nucleolar organizing regions (AgNORs) in the nondiagnostic fine needle aspiration biopsy (NFNAB) specimens (due to insufficient cell groups) of cases with thyroid nodules

Advanced Analysis of Auditory Evoked Potentials in Hyperthyroid Patients: The Effect of Filtering

The purpose of the study is to evaluate Auditory Evoked Potentials (AEPs) in patients with hyperthyroidism and to compare their frequency components with those of healthy subjects. In this study the AEPs in hyperthyroidism were studied both in time and frequency domains rather than studying just in the time domain by peak scoring. This paper presents a method for filtering auditory oddball standard and target AEPs by using singular spectrum analysis (SSA) and feature extraction in the frequency domain via spectral analysis. AEPs were recorded during an auditory oddball paradigm in 25 newly diagnosed hyperthyroid patients and 15 healthy subjects. The signals are captured in the presence of ongoing background EEG activity so they are often contaminated by artifacts. This paper presents a method for filtering auditory odd-ball standard and target AEPs by using Singular spectrum analysis and feature extraction in frequency domain via spectral analysis. Information about the frequency composition of the signal is then used to compare normal and hyperthyroid states. While there was no significant difference either in the target or standard unfiltered signals between the hyperthyroid patients and the control group (p>0.05), there was a significant difference in the filtered signals between the two groups (p<0.01). In conclusion, our results revealed that SSA is an effective filtering method for AEPs. Thus, a much more objective and specific examination method was developed