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AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.

Obstructive sleep apnea syndrome (OSAS) is characterized by repetitive episodes of pharyngeal closure during sleep. The pathogenesis of OSAS is unclear. We hypothesized that the genioglossus (GG), the most important pharyngeal dilator muscle, would be abnormal in patients with OSAS. Further, because treatment with continuous positive airway pressure (CPAP) is very effective clinically in these patients, we investigated the effects of CPAP upon the structure and function of the GG. We studied 16 patients with OSAS (nine of them at diagnosis and seven after having been under treatment with CPAP for at least 1 yr) and 11 control subjects in whom OSAS was excluded clinically. A biopsy of the GG was obtained in each subject, mounted in a tissue bath, and stimulated through platinum electrodes. The following measurements were obtained: maximal twitch tension, contraction time, half-relaxation time, the force-frequency relationship, and the response to a fatiguing protocol. The percentage of type I ("slow twitch") and type II ("fast twitch") fibers was also quantified. Patients with OSAS showed a greater GG fatigability than did control subjects (ANOVA, p < 0.001). Interestingly, this abnormality was entirely corrected by CPAP. Likewise, the percentage of type II fibers was significantly higher in patients with OSAS (59 +/- 4%) than in control subjects (39 +/- 4%, p < 0.001) and, again, these structural changes were corrected by CPAP (40 +/- 3%, p < 0.001). These results show that the function and structure of the GG is abnormal in patients with OSAS. Because these abnormalities are corrected by CPAP, we suggest that they are likely a consequence, not a cause, of the disease.

Introduction Home respiratory polygraphy (HRP) may be a cost-effective alternative to polysomnography for the diagnosis of sleep apnoea-hypopnoea syndrome (SAHS), but stronger evidence is needed. Normally, patients transport HRP equipment from the hospital to home and back, which may create difficulties for some patients. Objectives To determine both the diagnostic efficacy and cost of HRP (with and without a transportation service moving the device and telematic transmission of data) in a large sample compared with in-hospital polysomnography. Methods Patients suspected of having SAHS were included in a multicentre study (eight hospitals). They were assigned to home and hospital protocols in random order. Receiver operating characteristic curves were constructed for manual respiratory polygraphy scoring protocol and different polysomnographic cut-off points. Diagnostic efficacies for several polysomnographic cutoff points were explored and costs for two equally effective alternatives were calculated. Results Of 366 randomised patients, 348 completed the protocol. The best receiver operating characteristic curve was obtained with a polysomnographic cut-off of the apnoea-hypopnoea index (AHI)$5. The sensitive HRP AHI cut-off point (<5) had a sensitivity of 96%, a specificity of 57% and a negative likelihood ratio (LR) of 0.07; the specific cut-off (>10) had a sensitivity of 87%, a specificity of 86% and a positive LR of 6.25. The cost of HRP was half that of polysomnography. Telematic transmission costs were similar if the patients' costs were taken in to account. Conclusion HRP is an alternative to polysomnography in patients with suspected SAHS. Telematic procedures may help patients with limited mobility and those who live a long way from the sleep centre.

Obesity and metabolic syndrome (MS) occur frequently in patients with obstructive sleep apnoea syndrome (OSAS). We hypothesised that circulating free fatty acids (FFAs) are elevated in OSAS patients independently of obesity. This elevation may contribute to the development of MS in these patients.We studied 119 OSAS patients and 119 controls. Participants were recruited and studied at sleep unit of our institution (Hospital Universitari Son Dureta, Palma de Mallorca, Spain) and were matched for sex, age and body mass index (BMI). The occurrence of MS was analysed by clinical criteria. Serum levels of FFAs, glucose, triglycerides, cholesterol, high-density lipoproteincholesterol, aspartate aminotransferase, alanine aminotransferase, c-glutamyltransferase, C-reactive protein and 8-isoprostanes were determined.Prevalence of MS was higher in OSAS than in the control group (38 versus 21%; p50.006). OSAS patients had higher FFAs levels than controls (mean¡SD 12.2¡4.9 versus 10.5¡5.0 mg?dL -1 ; p50.015). Among subjects without MS, OSAS patients (OSAS+ MS-) showed higher levels of FFAs than controls (OSAS-MS-) (11.6¡4.7 versus 10.0¡4.4 mg?dL -1 ; p50.04). In a multiple regression model, after adjustment for age, sex, BMI and the presence of MS, FFAs were significantly associated with apnoea/hypopnoea index (p50.04).This study shows that FFAs are elevated in OSAS and could be one of the mechanisms involved in the metabolic complications of OSAS.