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The higher prevalence of autoimmune diseases in women compared to men could be due to effects of ovarian hormones, pregnancy and/or the presence of a 2nd X chromosome. To elucidate the role of these factors, we investigated the prevalence and spectrum of autoimmune diagnoses in women with primary ovarian insufficiency associated with X chromosome monosomy (Turner syndrome, TS, n=244) and women with karyotypically normal (46,XX) primary ovarian insufficiency (POI, n=457) in a prospective study, conducted at the National Institutes of Health. We compared the study group prevalence to normative data for the U.S. population of women. Chronic lymphocytic (Hashimoto’s) thyroiditis (HT) occurred in 37% of women with TS vs. 15% with POI (P<0.0001); HT prevalence in both ovarian insufficiency groups significantly exceeded that in U.S. population of women (5.8%). Inflammatory bowel (IBD, 4%) and celiac disease (CD, 2.7%) were significantly increased in TS, but not in POI. No other autoimmune diagnosis, including Graves’ disease or Type 1 diabetes appears to be significantly increased in either group. Women with TS had higher pro-inflammatory IL6 and TGF β1 levels (p<0.0001 for both), and lower anti-inflammatory IL10 and TGF β2 levels (p<0.005 for both) compared to POI and to normal volunteers. Lifetime estrogen exposure and parity were significantly lower in TS compared to POI, which were in turn lower than the general population of women. The finding that lymphocytic thyroiditis is greatly increased in both women with TS and POI suggests that factors associated with ovarian insufficiency per se promote this form of autoimmunity. The absence of a normal second X-chromosome further contributes to increased autoimmunity in TS.

Infertility is defined as the inability to conceive after one year of regular unprotected intercourse; approximately one in six couples wishing to start a family fall into this category. Although, in many cases, the diagnosis is simply 'unexplained', a variety of reasons including lack of ovulation, mechanical stoppage, sperm deficiencies and parental age have been implicated. It is difficult to assess accurately the overall magnitude of the contribution of genetics to infertility as most, if not all, conditions are likely to have a genetic component, for example susceptibility to infection. Nevertheless, a significant number of infertility phenotypes have been associated with specific genetic anomalies. The genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and phenotypes with multifactorial inheritance. Some genetic factors influence males specifically, whereas others affect both males and females. For example, chromosome translocations affect both males and females, whereas Klinefelter syndrome and the subsequent infertility phenotype caused by it are specific to males. This article reviews current research in the genetic basis of infertility; gender-specific disorders and those affecting both sexes are considered.

The phytoremediation is an environment friendly, green technology that is cost effective and energetically inexpensive. Metal hyperaccumulator plants are used to remove metal from terrestrial as well as aquatic ecosystems. The technique makes use of the intrinsic capacity of plants to accumulate metal and transport them to shoots, ability to form phytochelatins in roots and sequester the metal ions. Harbouring the genes that are considered as signatures for the tolerance and hyperaccumulation from identified hyperaccumulator plant species into the transgenic plants provide a platform to develop the technology with the help of genetic engineering. This would result in transgenics that may have large biomass and fast growth a quality essential for removal of metal from soil quickly and in large quantities. Despite so much of a potential, the progress in the field of developing transgenic phytoremediator plant species is rather slow. This can be attributed to the lack of our understanding of complex interactions in the soil and indigenous mechanisms in the plants that allow metal translocation, accumulation and removal from a site. The review focuses on the work carried out in the field of metal phytoremediation from contaminated soil. The paper concludes with an assessment of the current status of technology development and its future prospects with emphasis on a combinatorial approach.

Background/Aims: Untreated girls with Turner syndrome (TS) have growth failure, and adult height is, on average, 20 cm less than predicted height. Treatment with growth hormone (GH) is now standard of care. The objective of this study was to investigate the benefit of adding oxandrolone (Ox) to GH in a long-term, randomized, placebo (Pl)-controlled prospective trial to near adult height in TS. Methods: Prospective, randomized, Pl-controlled study: 76 girls with TS (ages 10–14.9 years) were randomized to receive Ox (0.06 mg/kg/day) or Pl in combination with GH (0.35 mg/kg/week, daily) over 2 years. Auxologic data, breast and pubic hair Tanner stages, and hormone and lipid levels were measured. Subjects who chose to continue were followed in a 2-year double-blind extension, also received estrogen therapy (years 3, 4), and had dual-energy X-ray absorptiometry evaluation of bone density (years 3, 4). Results: At year 4, the change in absolute height and height SDS was greater in the GH/Ox versus GH/Pl group [26.2 ± 6.7 vs. 22.2 ± 5.1 cm, analysis of covariance (ANCOVA) p < 0.001; 1.8 ± 0.9 vs. 1.2 ± 0.7 standard deviation scores, ANCOVA p < 0.001]. Bone mineral density (BMD) of the wrist (0.51 ± 0.17 vs. 0.54 ± 0.05 g/cm²) and spine (0.91 ± 0.34 vs. 0.96 ± 0.13 g/cm²) in the GH/Ox versus GH/Pl groups was similar after 4 years. Breast development was slower in the GH/Ox versus GH/Pl group [year 4: Tanner stage 2.9 ±1.3 (Ox) vs. 4.1 ± 1.3 (Pl), p = 0.003], and menarche was approximately 1 year later. Conclusions: The addition of Ox to GH at mean age 12.0 ± 1.7 year augmented height gain after 4 years of treatment, slowed breast development and did not affect BMD in girls with TS. Whether initiation of Ox prior to initiation of pubertal development would optimize height gain without impeding breast development will require further study.

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Using medical advances to enhance human athletic, aesthetic, and cognitive performance, rather than to treat disease, has been controversial. Little is known about physicians' experiences, views, and attitudes in this regard. We surveyed a national sample of physicians to determine how often they prescribe enhancements, their views on using medicine for enhancement, and whether they would be willing to prescribe a series of potential interventions that might be considered enhancements. We find that many physicians occasionally prescribe enhancements, but doctors hold nuanced and ambiguous views of these issues. Most express concerns about the potential effects of enhancements on social equity, yet many also believe specific enhancements that are safe and effective should be available but not covered by insurance. These apparently contradictory views might reflect inherent tensions between the values of equity and liberty, which could make crafting coherent social policies on medical enhancements challenging.

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