All the defects of gonad formation during intrauterine development have been grouped under the name of gonadal disgenesias. Disturbances of the whole body appears in gonadal disgenesias, the disruption process of sexualization remaing the major event. In the absence or scarcity oestrogen, progesterone or androgens, hypogonadal sexoidoprive osteoporosis develops.
Objectives: Early diagnosis of gonad disgenesias; study of bone mineral metabolism alterations; evaluation of the mass and bone turnover at the enrolled patients; assesment of profilaxy measures for bone changes since early stages prepubertal, pubertal and postpubertal in order to ensure maximal bone mass linked to sex and age; establish diferent treatment measures.
Methods: We studied 11 cases of Turner syndrome, females aged 1225, and five cases of Klinefelter syndrome, aged 1828. For assessing the diagnosis of gonadal disgenesia, the cytogenetic (Barr chromatin and cariotype) and hormonology (LH, FSH, PRL, oestradiol, progesterone, testosterone, TSH, FT4) evaluations were performed. As biochemical markers of bone turnover we assessed: serum Cross Laps and osteocalcine by means of ELISA method. Bone mineral density was tested using dual X-ray absorption (DXA).
Results: In all cases, Cross Laps and osteocalcin values are comparable to those in premenopausal and postmenopausal women, ranging 29.4112.96 ng/ml for osteocacine and 0.1971.768 ng/ml for the Cross Laps. Osteoporosis was reveald by DEXA in seven cases of Turner syndrome females and three cases with Klinefelter syndrome, for the other cases T score suggested osteopenia (−1.70 to −2.10 S.D).
Conclusions: Early diagnosis is necessary for stabilizing gonadal disgenesia (increased bone mass and reducing fractures). The therapeutical solution associates oestro-progestive/androgenic substitution with specific drugs for bone remineralization (bisphospho-nates, calcium products and vitamin D derivates).