Recommendations for the diagnosis and management of Turner syndrome.

Comprehensive recommendations on the diagnosis of Turner syndrome (TS) and the care of affected individuals were published in 1994. In the light of recent advances in diagnosis and treatment of TS, an international multidisciplinary workshop was convened in March 2000, in Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome to update these recommendations. The present paper details the outcome from this workshop. The genetics and diagnosis of the syndrome are described, and practical treatment guidelines are presented.     

Prediction of response to growth hormone treatment in short children born small for gestational age: analysis of data from KIGS (Pharmacia International Growth Database)

A model was developed that allows physicians to individualize GH treatment in children born short for gestational age (SGA) who fail to show spontaneous catch-up growth. Data from children (n = 613) in a large pharmacoepidemiological survey, the KIGS (Pharmacia International Growth Database), or who had participated in clinical trials were used to develop the model. Another group of similar children (n = 68) from KIGS was used for validation. In the first year of GH treatment, the growth response correlated positively with GH dose, weight at the start of GH treatment, and midparental height SD score and negatively with age at treatment start. Using this model, 52% of the variability of the growth response could be explained, with a mean error SD of 1.3 cm. GH dose was the most important response predictor (35% of variability), followed by age at treatment start. The second year growth response was best predicted by a three-parameter model (height velocity in yr 1 of treatment, age at start of treatment, and GH dose), which accounted for 34% of the variability, with an error SD of 1.1 cm. The first year response to GH treatment was the most important predictor of the second year response, accounting for 29% of the variability. No statistically significant differences between the predicted and observed growth responses were found when the models were applied to the validation groups. In conclusion, using simple variables, we have developed a model that can be used in clinical practice to adjust the GH dose to achieve the desired growth response in patients born SGA. Furthermore, this model can be used to provide patients with a realistic expectation of treatment and may help to identify compliance problems or other underlying causes of treatment failure.     

Effect on fertilization of intra-peritoneal exposure of oocytes to carbon dioxide

Follicular aspiration is generally performed via laparoscopyafter creating a pneumoperitoneum with carbon dioxide (CO₂)Adverse effects on embryo development may occur following exposureto CO₂, which is known to cause a decrease in follicular fluidpH. Such a reduction in pH may affect fertilization and earlyembryonic development and this study was carried out to studythese effects. Oocytes obtained by laparoscopy were comparedwith those obtained under ultrasonic guidance to determine whetherCO₂ exposure had any adverse effect. The results suggest thatCO₂ may affect fertilization, but once this has occurred, thereis no effect of CO₂ on the rate of cleavage of the embryos.     

The use of endovaginal ultrasound to diagnose invasion of endometrial carcinoma.

Endovaginal ultrasound was used in 30 women to characterize endometrial carcinoma with respect to myometrial invasion according to FIGO recommendations for surgical staging of endometrial cancer. The ultrasound data were correlated to macroscopic findings of the uterine specimen and to histopathology.Using endovaginal ultrasound, the sensitivity of detecting myometrial invasion of > 50% was 15/19 or 79%. However, the positive predictive value was 100%, in all cases when ultrasound suggested myometrial invasion of > 50%. This was confirmed on histopathological examination of the tumor specimen. Cervical tumor extension was correctly diagnosed in all six women in which it was present. Endovaginal ultrasound seems to be a reliable method of assessing tumor invasion and engagement of the cervix. This non-invasive method could be included as an important tool in the establishment of individualized treatment programs in women with endometrial carcinoma.     

The role of prostaglandins in the stimulatory action of catecholamines on myometrial activity in term pregnant women

The response of small strips of human myometrium to catecholamines was investigated using a superfusion technique. In term pregnant uteri, adrenaline (A) and noradrenaline (NA) caused contraction of both the upper and lower segments, but there was no significant change in response depending on whether or not the patient was in labor. Phenoxybenzamine blocked the excitatory effect of both A and NA, suggesting an alpha-adrenoceptor-mediated effect. Propranolol did not enhance the effect of A or NA, indicating that stimulation of beta-adrenoceptors does not contribute to the effect on the pregnant human uterus. Pretreatment of the tissue with indomethacin or eicosa-5,8,11,14-tetraynoic acid (ETA), drugs known to block endogenous prostaglandin synthesis, markedly reduced the effects of both A and NA. This suggests a specific role of prostaglandins in the mechanism of action of catecholamines on the human myometrium.