Search

Objective: The condition of 46XX congenital adrenal hyperplasia (CAH) causes a wide spectrum of phenotypic manifestations, ranging from ambiguous genitalia to complete virilization with an absence of testicular tissue. While this condition is usually diagnosed during childhood, rare cases have been diagnosed later in life.Methods: We report the case of an elderly male patient presenting at a tertiary health care facility in the United States with severe CAH. He was diagnosed as a chromosome 46XX phenotypic male with metastatic cervical cancer during a workup for gross hematuria.Results: A 78-year-old infertile male presented with sepsis, abdominal pain, and abdominal and pelvic masses. Imaging studies unexpectedly showed a uterus and an adnexal mass. Karyotype analysis revealed the patient as 46XX. The results of subsequent laboratory analyses were consistent with CAH. Surgical removal of the uterus revealed a cervical adenocarcinoma and a benign ovarian mass.Conclusion: This case highlights the potential for late diagnosis of severe CAH in 46XX individuals and the risks associated with unrecognized CAH.Abbreviations: CAH = Congenital adrenal hyperplasia DSD = disorder of sexual differentiation

Background: Association studies have suggested that lower circulating 25-hydroxyvitamin D [25(OH)D] in African Americans may partially underlie higher rates of cardiovascular disease and cancer in this population. Nonetheless, the relation between vitamin D supplementation and 25(OH)D concentrations in African Americans remains undefined. Objective: Our primary objective was to determine the doseresponse relation between vitamin D and plasma 25(OH)D. Design: A total of 328 African Americans in Boston, MA, were enrolled over 3 winters from 2007 to 2010 and randomly assigned to receive a placebo or 1000, 2000, or 4000 IU vitamin D3/d for 3 mo. Subjects completed sociodemographic and dietary questionnaires, and plasma samples were drawn at baseline and 3 and 6 mo. Results: Median plasma 25(OH)D concentrations at baseline were 15.1, 16.2, 13.9, and 15.7 ng/mL for subjects randomly assigned to receive the placebo or 1000, 2000, or 4000 IU/d, respectively (P = 0.63). The median plasma 25(OH)D concentration at 3 mo differed significantly between supplementation arms at 13.7, 29.7, 34.8, and 45.9 ng/mL, respectively (P , 0.001). An estimated 1640 IU vitamin D3/d was needed to raise the plasma 25(OH)D concentration to $20 ng/mL in $97.5% of participants, whe reas ad ose of 4000 IU/d was needed to achieve concentrations $33 ng/mL in $80% of subjects. No significant hypercalcemia was seen in a subset of participants. Conclusions: Within African Americans, an estimated 1640 IU vitamin D3/d was required to achieve concentrations of plasma 25(OH)D recommended by the Institute of Medicine, whereas 4000 IU/d was needed to reach concentrations predicted to reduce cancer and cardiovascular disease risk in prospective observational studies. These results may be helpful for informing future trials of disease prevention. This trial was registered at clinicaltrials.gov as NCT00585637. Am J Clin Nutr 2014;99:587‐98.

Heart failure (HF) is a common, disabling, and costly disease. Despite major advances in medical therapy, morbidity and mortality remain high, in part because current pharmacological regimens may not fully address some unique requirements of the heart for energy. The heart requires a continuous supply of energy-providing substrates and amino acids in order to maintain its function. In HF, defects in substrate metabolism and cardiac energy and substrate utilization may contribute to contractile dysfunction. HF is often accompanied by a deficiency in key micronutrients required for unimpeded energy transfer. Correcting these deficits has been proposed as a method to limit or even reverse the progressive myocyte dysfunction and/or necrosis in HF. This review summarizes the existing HF literature with respect to supplementation trials of key micronutrients involved in cardiac metabolism: coenzyme Q10, l-carnitine, thiamine, and amino acids, including taurine. Studies using a broader approach to supplementation are also considered. Although some of the results are promising, none are conclusive. There is a need for a prospective trial to examine the effects of micronutrient supplementation on morbidity and mortality in patients with HF.