Disgenesias gonadais: estudo de 84 pacientes / Gonadal dysgenesis: study of 84 patients

OBJETIVOS: Este estudo pretende avaliar as pacientes portadoras de disgenesia gonadal atendidas no período de janeiro de 1970 a maio 1999 no Serviço de Ginecologia do Departamento de Tocoginecologia do Hospital de Clínicas da Universidade Federal do Paraná. CASUISTICA E MÉTODOS: Realizouse estudo retrospectivo das 84 pacientes com disgenesia gonadal atendidas no ambulátorio de Ginecologia Endócrina deste serviço. RESULTADOS: Das 84 pacientes estudadas, 39 (46,43 por cento) tiveram o diagnóstico de disgenesia gônado-somática (grupo I); 41 delas (48,81 por cento) tiveram o diagnóstico de disgenesia gonadal pura (grupo II) e em quatro (4,76 por cento), o diagnóstico foi de disgenesia gonadal mista (grupo III). CONCLUSÕES: O presente estudo analisou e concluiu que conveniente observaçäo clínica e laboratorial é importante para a orientaçäo e prognóstico das pacientes portadoras de disgenesias gonadais. Discute-se a orientaçäo medicamentosa e cirúrgica nesta entidade

A concomitant decrease in cortical and trabecular bone mass in isolated hypogonadotropic hypogonadism and gonadal dysgenesis

To assess the impact of hypogonadism on bone mineral density, we performed a cross-sectional study of 70 amenorrheic women, comprising 22 cases of gonadal dysgenesis and 48 cases of isolated hypogonadotropic hypogonadism (IHH). Bone mineral density was measured by DEXA at four sites: the femur neck, Ward's triangle, trochanter, and lumbar spine (L2-4). The results were compared to those of a control group consisting of 60 age-matched, normal-cycling women. Bone mineral densities around age 20 were already significantly lower at all four sites in patients with IHH and gonadal dysgenesis when compared with controls, suggesting that these patients failed to achieve peak bone mass during pubertal development. In patients with IHH, the initial BMD around age 18-20 were significantly lower at all four sites and the decrease in bone density continued rapidly during the early twenties up to age 25, and then it slowed markedly thereafter. Bone biochemical marker, ICTP and osteocalcin were significantly negatively correlated with age and remained increased until age 40, which was reminiscent of menopausal bone loss pattern such as high bone turn-over in the early twenties, followed by slow bone loss in the late twenties. In patients with gonadal dysgenesis, bone biochemical marker, ICTP and osteocalcin were also significantly negative correlated with age and remained increased until age 40, but no significant changes in BMD were noted as a function of age, which may be attributed to the small sample size and slow bone loss. These findings suggest that the initiation of prompt and timely therapeutic intervention as early as possible in the menarchal period and throughout the remainder of life, particularly during the period associated with rapid bone loss.

Disgenesia gonadal: diagnóstico y perspectivas terapéuticas / Ovarian dysgenesis: diagnosis and therapeutical perspectives

Ovarian dysgenesis is the endstage of a process of follicular atresia, Turner syndrome (45 X), being the most common cause, with an incidence of 1 in 2500 female births. In addition to ovarian failure, these patients have a short stature and a number of primary and derived somatic anomalies. Tertiary preventive measures are considered and treatment of short stature, estrogen deficiency and of infertility is discussed