Metabolic syndrome in children with Prader-Willi syndrome: the effect of obesity.

BACKGROUND AND AIMS: Prader-Willi syndrome (PWS), the most frequent syndromic obesity, is associated with elevated morbidity and mortality in pediatric and adult ages. In PWS, the presence of metabolic syndrome (MS) has not yet been established. The aim of the study was to estimate the frequency of MS and its components in pediatric subjects according to obesity status. METHODS AND RESULTS: A cross-sectional study was performed in 109 PWS children aged 2-18 years (50 obese and 59 non-obese) and in 96 simple obese controls matched for age, gender, and also for BMI with obese PWS. Obesity was defined when SDS-BMI was >2. Non-obese PWS showed significantly lower frequency of hypertension (12%) than obese PWS (32%) and obese controls (35%)(p=0.003). The same was observed for low HDL-cholesterol (3% vs 18% and 24%, p=0.001) and high triglycerides (7% vs 23% and 16%, p=0.026). Frequency of altered glucose metabolism was not different among groups (2% vs 10% and 5%), but type 2 diabetes (four cases) was present only in obese PWS. Non-obese PWS showed lower insulin and HOMA-index respect to obese PWS and obese controls (p ≤ 0.017). Overall MS frequency in PWS was 7.3%. None of the non-obese PWS showed MS compared with 16% of obese PWS and controls (p<0.001). When obesity was excluded from the analysis, a significantly lower frequency for clustering of ≥ 2 factors was still found in non-obese PWS (p=0.035). CONCLUSION: Non-obese PWS showed low frequency of MS and its components, while that observed in obese PWS was very close to those of obese controls, suggesting the crucial role of obesity status. Prevention of obesity onset remains the most important goal of PWS treatment. Early identification of MS could be helpful to improve morbidity and mortality in such patients.

Effectiveness of pentoxifylline in semen preparation for intrauterine insemination.

Pentoxifylline, an inhibitor of cAMP phosphodiesterase activity, favours intracellular cAMP concentration increase. In-vitro treatment of semen with pentoxifylline leads to marked augmentation of sperm motility, enhancement of acrosome reaction, increase of sperm penetration into zona-free hamster oocytes, and protection of the sperm plasma membrane. Such properties indicate that the drug may be a useful tool for semen preparation in assisted reproduction, but its real effectiveness in improving fertilization rates is still uncertain, mainly in association with intrauterine insemination (IUI). Theoretically sperm motility should play an extremely important role for positive results in IUI. Therefore, a retrospective clinical trial was planned in order to evaluate whether addition of pentoxifylline to the previously standardized in-vitro treatment of semen had improved the percentage of pregnancies after homologous IUI. The study involved 55 sterile couples (33 classified infertile for male factor and 22 for other factors) who underwent a total of 150 cycles of homologous IUI: 101 for male factor infertility and 49 for other factors (anovulation n = 26, endometriosis n = 2, idiopathic n = 21). Out of the 101 cycles performed for male factor infertility, 61 underwent the standard preparation of semen and were followed by seven pregnancies (pregnancy rate = 11.5%) while 40 had a semen preparation with pentoxifylline addition and were followed by 11 pregnancies (pregnancy rate = 27.5%) with a significant difference between the two procedures (P < 0.05). Out of the 49 cycles carried out for factors different from male infertility, 10 underwent the standard preparation of semen and were followed by two pregnancies (pregnancy rate = 20.0%), while 39 had pentoxifylline addition and were followed by nine pregnancies (pregnancy rate = 23.1%). The difference between the two groups was not significant. Abortions and malformations were equally distributed in the standard treatment and in the pentoxifylline group.

CA-125 monitored therapy with GnRH analogue of pelvic endometriosis.

Thirteen patients affected by endometriosis have been treated with GnRH analogue Buserelin. CA-125 serum levels have been monitored before, during and after treatment. Analysis of data suggests the hypothesis of an individualized follow up by means of repeated assays of CA-125 and their reference to pre and post treatment graphs.