Current Opinion in Endocrinology, Diabetes and Obesity

No abstract available

Purpose of review: Disease states characterized by abnormal cellular function or proliferation frequently reflect aberrant genetic information. By revealing disease-specific DNA mutations, we gain insight into normal physiology, pathophysiology, potential therapeutic targets and are better equipped to evaluate an individual's disease risks. This review examines recent advances in our understanding of the genetic basis of adrenal cortical disease. Recent findings: Important advances made in the past year have included identification of KCNJ5 potassium channel mutations in the pathogenesis of both aldosterone-producing adenomas and familial hyperaldosteronism type III; characterization of phosphodiesterase 11A as a modifier of phenotype in Carney complex caused by...

Purpose of review: To review the current knowledge of genetic variants in the two genes affecting the individual responsiveness to follicle-stimulating hormone (FSH) action—the FSH beta-subunit (FSHB) and the FSH receptor (FSHR), as well as the pharmacogenetic ramifications of the findings. Recent findings: Four common variants in the FSHB and the FSHR genes were shown to exhibit significant effect on FSH action: linked FSHR variants Thr307Ala and Asn680Ser determining common receptor isoforms, and gene expression affecting polymorphisms FSHR –29G/A and FSHB –211G/T. In women, the FSHR Thr307Ala/Asn680Ser polymorphisms show consistent predictive value for estimating the most optimal recombinant FSH dosage in...

Purpose of review: To assess whether prenatal exposure to smoking is associated with impaired reproductive health in exposed men. Recent findings: Men who have been exposed to maternal smoking in utero have smaller testes and impaired semen quality as compared to nonexposed men, suggesting toxic effects on Sertoli and/or germ cells. According to meta-analyses there is only a weak or no association with fetal exposure to smoking and the incidence of testicular germ cell cancer, cryptorchidism, or hypospadias. Summary: Adverse effect of maternal smoking on sperm production capacity of their son is yet another good reason for women to quit smoking before...

Purpose of review: This review focuses on the presentation, treatment and long-term outcomes of men with idiopathic hypogonadotropic hypogonadism (IHH). Recent findings: The traditional view that IHH is a simple monogenic disorder has now been revised, with some cases having an oliogenic basis involving mutations in more than one locus in each affected individual. The majority of IHH men respond well to induction of spermatogenesis with gonadotropins or pulsatile gonadotropin-releasing hormone. Favourable prognostic factors include larger testicular size, prior gonadotropin therapy, no previous androgen therapy, absence of cryptorchidism and pretreatment inhibin B levels more than 60 pg/ml. Genetic factors influence response to...

Purpose of review: Late-onset or nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. The purpose of this review is to provide current information regarding the pathophysiology, molecular genetics, and management of this common disorder. Recent findings: Subfertility and the consequences of elevated progesterone concentrations have been increasingly documented for women with NCAH. Although testicular adrenal rest tumors (TARTs) are more common in men with classical congenital adrenal hyperplasia,...

Purpose of review: This review of disorders of sex development (DSDs) in boys and men will outline the conditions that may lead to this phenotype, present some guidance on how to evaluate and investigate affected cases and then review the medical and surgical management and subsequent outcome. Recent findings: DSDs are a wide range of relatively rare conditions which need multidisciplinary input. The underlying cause is clearer in girls with DSDs, but the actual diagnosis remains unclear in the majority of boys with DSDs. Summary: There is a need to improve the diagnostic yield and develop standardized methods for assessing, describing and...

Purpose of review: To describe available markers of male puberty, discuss associations between adiposity and pubertal timing and to review recent evidence of a possible secular trend in male pubertal timing. Recent findings: An expert panel reviewing existing American pubertal data from boys in 2005 could not confirm a secular trend in male pubertal timing. National Health and Nutrition Examination Survey III findings have been confirmed by the National Institute of Child Health and Human Development study reporting a mean age of 10.4 years for Caucasian boys entering Tanner stage G2. Furthermore, the Copenhagen Puberty Study reported a 3 months decline...

Purpose of review: Sex hormone-binding globulin (SHBG) regulates the plasma levels and biological actions of the sex steroids: testosterone and estradiol. Advances in our understanding of how plasma SHBG levels are determined, and how SHBG functions, have provided insight into how SHBG should be used to assess the actions of its sex-steroid ligands, and as a biomarker of metabolic and endocrine abnormalities. Recent findings: Plasma SHBG levels fluctuate throughout life in response to the changes in metabolic and physiologic states, and are altered by natural hormones and synthetic steroids. Interindividual differences in plasma SHBG levels and activity are also influenced by...

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Purpose of review: Recent data suggest that mineralocorticoid receptor activation can affect insulin resistance independent of its effects on blood pressure. This review discusses new evidence linking mineralocorticoid receptor to insulin resistance and the underlying mechanisms of these effects. Recent findings: Observational studies have shown mineralocorticoid activity to be associated with insulin resistance irrespective of race, blood pressure or body weight. Increased mineralocorticoid activity may be the common link between obesity, hypertension, dyslipidemia and insulin resistance, features that make up the metabolic syndrome. Treatment of primary aldosteronism is associated with a decrease in insulin resistance and provides one of the most...

Purpose of review: To summarize recent advances in studies of illicit use of androgens and other hormones. Recent findings: Androgens and other appearance-enhancing and performance-enhancing substances are widely abused worldwide. Three notable clusters of findings have emerged in this field in recent years. First, studies almost unanimously find that androgen users engage in polypharmacy, often ingesting other hormones (e.g., human growth hormone, thyroid hormones, and insulin), ergo/thermogenic drugs (e.g., caffeine, ephedrine, and clenbuterol), and classical drugs of abuse (e.g., cannabis, opiates, and cocaine). Second, reports of long-term psychiatric and medical adverse effects of androgens continue to accumulate. In cardiovascular research particularly,...

Purpose of review: To describe the significance of a common adrenal radiological finding on computed tomography or MRI. Recent findings: Bilateral adrenocortical hyperplasia is the common expression of a variety of adrenal disorders, and its cause needs to be properly assessed in order to institute appropriate management. Summary: Behind the radiological finding of bilateral adrenal enlargement, there is a spectrum of diseases that require diagnostic evaluation and management. Many cases are benign and not associated with abnormalities of endocrine function. However, these abnormalities may develop years after the initial diagnosis has been made.

No abstract available