RESUMEN
We report on a family in which mental retardation is associated with a bilateral clasp-thumb anomaly (absent extensor pollicis brevis tendons). Males over 3 generations were documented to have this combination of findings and pedigree analysis strongly suggests X-linked inheritance. We are not aware of previous reports of X-linked mental retardation (XLMR) associated with this anomaly. There was no evidence of a fragile X in the 2 brothers who were studied for this abnormality.
Asunto(s)
Anomalías Múltiples/genética , Contractura , Discapacidad Intelectual/genética , Pulgar/anomalías , Cromosoma X , Adolescente , Niño , Femenino , Humanos , Masculino , LinajeRESUMEN
A 3-month-old female infant feminized by an ovarian stromal tumor is presented. Clinicopathologic aspects of such tumors occurring in infancy are discussed. In addition, the evaluation of hypothalamic-pituitary function preoperatively and postoperatively are presented. In the preoperative, high-steroid environment, both basal and stimulated secretion of follicle-stimulating hormone (FSH) was suppressed. Secretion of luteinizing hormone (LH) was normal. Following surgical castration, stimulated secretion of both gonadotropins clearly increased. These findings suggest an active but less sensitive negative feedback mechanism for FSH than for LH during infancy, i.e., high concentrations of gonadal steroids are necessary to maximally suppress FSH secretion while normal steroid concentrations appear to maximally suppress LH secretion. Developmental changes in hypothalamic-pituitary sensitivity to negative feedback controls are discussed in light of these findings.
Asunto(s)
Sistema Hipotálamo-Hipofisario/fisiopatología , Neoplasias Ováricas/fisiopatología , Femenino , Hormona Folículo Estimulante/metabolismo , Hormonas Esteroides Gonadales/sangre , Humanos , Sistema Hipotálamo-Hipofisario/metabolismo , Histerectomía , Lactante , Recién Nacido , Hormona Luteinizante/metabolismo , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Pruebas de Función Hipofisaria , Pubertad PrecozRESUMEN
A total of 130 patients with uncomplicated short stature (4 to 17 years of age) were treated with oxandrolone, 0.25 mg/kg/day, for up to four years. Oxandrolone therapy resulted in a two-fold increase in mean growth velocity in the first six months of therapy and was an effective growth stimulant for the full four-year period. There was no overall adverse effect of oxandrolone on post-treatment mean growth velocity or on skeletal maturation relative to height gain. There were 37 patients with greater increase in height age than bone age and 22 patients with greater increase in bone age than height age. Assessment of the contribution of oxandrolone therapy to the latter group is difficult because of inadequate methodology and the wide variation in individual growth patterns. Taken in their entirety, the data suggest that oxandrolone is useful in the prolonged treatment of uncomplicated short stature and is not associated with undesirable acceleration of skeletal maturation.
Asunto(s)
Trastornos del Crecimiento/tratamiento farmacológico , Oxandrolona/uso terapéutico , Adolescente , Determinación de la Edad por el Esqueleto , Factores de Edad , Estatura/efectos de los fármacos , Niño , Preescolar , Cronología como Asunto , Femenino , Humanos , Masculino , Oxandrolona/farmacología , Factores de TiempoRESUMEN
Luteinizing hormone-releasing hormone (100 mug iv) produced a response of LH, FSH, testosterone, and estradiol in children with premature pubarche that was not different from that among normal prepubertal children. Hence, this study provides no evidence that hypothalamic-pituitary-gonadal maturation occurs with the onset of premature sexual hair.