Case Report: Low Bone and Normal Lean Mass in Adolescents With Complete Androgen Insensitivity Syndrome.

Introduction: Osteopenia and osteoporosis have been reported in adults with Complete Androgen Insensitivity Syndrome (CAIS). Little is known about changes in bone mineral density (BMD) in adolescents with CAIS and whether it is affected by early gonadectomy. Body composition data have not been reported. Methods: Single-center, retrospective study of CAIS adolescents who underwent dual-energy x-ray absorptiometry (DXA) (Hologic, Horizon A). Body composition is presented as lean and fat mass indices (LMI, FMI). Z-scores for lumbar spine areal BMD (LBMD), total body less head (TBLH), bone mineral content (BMC), LMI, and FMI were calculated using female normative data. Results are expressed as median and min, max. Results: Six females with genetically confirmed CAIS were identified-one with intact gonads and five with history of gonadectomy at 2-11 months. In the subject with intact gonads, LBMD-Z and TBLH BMC-Z were -1.56 and -1.26, respectively, at age 16 years. Among those with gonadectomy, LBMD-Z was -1.8 (-3.59 to 0.49) at age 15.6 years (12-16.8) and decreased in all three subjects who had longitudinal follow-up despite hormone replacement therapy (HRT). Adherence to HRT was intermittent. LMI-Z and FMI-Z were 0.1 (-1.39 to 0.7) and 1.0 (0.22 to 1.49), respectively. Conclusions: These limited data indicate that adolescents with CAIS have bone mass deficit. Further studies are needed to understand the extent of BMD abnormalities and the effect of gonadectomy, especially early in childhood, and to establish the optimal HRT regimen for bone accrual. Data on lean mass are reassuring.

Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.

Ovotesticular Differences in Sexual Development (OT-DSD) is a rare subset of DSD with great phenotypic variability characterized by the presence of both testicular and ovarian tissue in the same individual. Here, we describe the case of 46,XX, SRY-negative baby with ambiguous genitalia and ovotestis discovered during laparoscopy. As the family decided on female gender of rearing, the testicular component of the ovotestis was removed while the ovarian component was preserved. Stemming from this case, we review the clinical presentation of OT-DSD throughout ages, the role of genetics and risk for gonadal tumors when making decisions about prophylactic gonadectomy. Finally, we summarize the most recent information of the spontaneous endocrine function, with or without conservative therapy, and fertility potential of people with OT-DSD.

Endocrine aspects of Klinefelter syndrome.

PURPOSE OF REVIEW: Klinefelter syndrome is the most common sex chromosome abnormality in men. Hypogonadism and testicular degeneration are almost universal. Truncal adiposity, metabolic syndrome and low bone mass occur frequently. This review summarizes the most recent advances in the pathogenesis and management of the endocrine abnormalities in Klinefelter syndrome. It is expected that optimal endocrine management will improve outcomes and quality of life in Klinefelter syndrome. RECENT FINDINGS: In Klinefelter syndrome, testosterone replacement is routinely prescribed despite lack of evidence on the optimal dose and time for initiation of therapy. Cross-sectional studies have linked hypogonadism to the development of metabolic abnormalities and low bone mass. Testosterone therapy, however, is not consistently associated with improved metabolic and bone outcomes. Increased truncal adiposity and high rates of metabolic syndrome are present in prepubertal children. A randomized trial of oxandrolone in prepubertal boys showed improvement in visual-motor function, socialization and cardiometabolic health. Testicular sperm extraction (TESE) has success rates similar to other causes of nonobstructive azoospermia when performed between 16 and 35 years of age. SUMMARY: Endocrine care in Klinefelter syndrome should start in childhood and include evaluation of metabolic risk factors and bone health. Further research to guide evidence-based endocrine care is very much needed.

Reviewing the Evidence Base for the Children and Young People Safety Thermometer (CYPST): A Mixed Studies Review.

The objective was to identify evidence to support use of specific harms for the development of a children and young people's safety thermometer (CYPST). We searched PubMed, Web of Knowledge, and Cochrane Library post-1999 for studies in pediatric settings about pain, skin integrity, extravasation injury, and use of pediatric early warning scores (PEWS). Following screening, nine relevant articles were included. Convergent synthesis methods were used drawing on thematic analysis to combine findings from studies using a range of methods (qualitative, quantitative, and mixed methods). A review of PEWS was identified so other studies on this issue were excluded. No relevant studies about extravasation injury were identified. The synthesized results therefore focused on pain and skin integrity. Measurement and perception of pain were complex and not always carried out according to best practice. Skin abrasions were common and mostly associated with device related injuries. The findings demonstrate a need for further work on perceptions of pain and effective communication of concerns about pain between parents and nursing staff. Strategies for reducing device-related injuries warrant further research focusing on prevention. Together with the review of PEWS, these synthesized findings support the inclusion of pain, skin integrity, and PEWS in the CYPST.

Meeting the needs of four generations of nurses.

Every year increasing numbers of nurses and midwives leave the NHS. In the current climate of staff shortages it is crucial to understand why this is happening and try to resolve the problem; in Birmingham we have taken steps to do this. This article explores the different workforce generations, along with strategies that could enhance nursing and midwifery careers, ensuring they meet the needs of all generations, thereby encouraging practitioners to stay in their profession for longer.