The aim of the study was to evaluate the influence of insulin level on the ovarian response to FSH when inducing ovulation in patients affected by polycystic ovarian syndrome (PCOS). To evaluate the presence of hyperinsulinemia, 34 patients affected by PCOS were studied by an oral glucose tolerance test, then patients were stimulated for 52 cycles using FSH to induce ovulation. The ovarian response to therapy was evaluated by ultrasounds and as estradiol (E 2 ) and androstenedione (A) plasma level determinations. On the basis of the insulinemic response to the glucose challenge, 20 patients were considered to be hyperinsulinemic and 14 normoinsulinemic. The hormonal features of each group were similar. The ovulation rate was similar in hyperinsulinemic and normoinsulinemic subjects, whereas the incidence of ovarian hyperstimulation was significantly higher in the hyperinsulinemic group. The increase in ovarian dimensions observed in hyperinsulinemic subjects after gonadotropin stimulation was more marked than that observed in normoinsulinemic ones. This was caused by the development of a larger number of immature follicles. E 2 levels gradually increased after gonadotropin stimulation in both groups of subjects; however, higher levels were observed in hyperinsulinemic patients. During stimulation, the higher E 2 /A ratio suggests the presence of a greater aromatization activity in hyperinsulinemic patients. In conclusion, the present study suggests that, in PCOS, the insulinemic pattern may influence the ovarian response to gonadotropin administration; thus, hyperinsulinemic subjects may be at greater risk of ovarian hyperstimulation syndrome than normoinsulinemic subjects. (J Clin Endocrinol Metab 82: 644 -648, 1997) P OLYCYSTIC ovarian syndrome (PCOS) is a heterogeneous clinical condition characterized by irregular menstrual cycles, acne, hirsutism, and endocrine abnormalities such as hyperandrogenism and inappropriate LH secretion (1). Moreover, hyperinsulinemia and insulin resistance, independent of obesity, have been recognized recently in a large number of PCOS subjects (2, 3). This metabolic alteration may play a role in the pathophysiology of the syndrome (4). In vitro studies have shown that insulin increases basal and LH-mediated androgen production by ovarian thecal-stromal cells (5). On the other hand, several recent data demonstrated that insulin and other growth factors could modulate granulosa cell steroidogenesis and follicular development in human ovaries (6). The treatment of infertility caused by chronic anovulation in patients with PCOS is still an open issue. Exogenous gonadotropin administration for the induction of ovulation, although resulting in a pregnancy rate ranging from 20 -40%, involves an increased risk of ovarian hyperstimulation syndrome (OHSS) in such patients (7). In spite of the great number of papers published, the relationships between circulating insulin levels, follicular growth, and ovarian hormone secretion have not yet been clarified. The aim of this study was ...

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Deletions of the short arm of chromosome 9 are associated with two distinct clinical entities. Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p-malformation syndrome phenotype. The critical region for non-syndromic 46,XY sex reversal was assigned to a 1 Mb interval of chromosome 9p, extending from the telomere to the DMRT genes cluster. The 9p-syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p-syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex-reversal critical region, excluding the region so far associated with the 9p-syndrome. Genotype-phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p-syndrome critical region.

We observed that most of the patients had a BMD that was lower than normal in both the lumbar column and in the femoral neck. Bone mass loss was higher in the lumbar region rather than in the femoral neck, due to spinal radiation therapy and to the effect of hormonal deficiencies. Particularly hypogonadism, but also multiple hormonal deficiencies, are associated with lower BMD values. Experience in clinical care of these patients suggests the importance of periodic evaluations of BMD, especially in those with secondary hormone deficiencies. Moreover, the periodic assessment of the hypothalamus-pituitary function is essential for an early diagnosis of hormonal insufficiency, primarily hypogonadism, to precociously detect bone mineral loss and to prevent pathological fractures, thus improving the quality of life.