ESPE Abstracts

Background: We describe our experience in medical therapy for invasive somatotroph pituitary macroadenomas in 8 children or adolescents presenting with acromegaly/gigantism, in terms of growth and IGF-I levels control.Patients: Eight children, aged 5 to 17 years (median 12.4 years), presented with growth hormone (GH) hypersecretion related to somatotroph pituitary macroadenomas with cavernous sinus invasion in 6/8. Genetic testing revealed AIP mutation i...

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype associated with primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Objective and hypotheses: Phenotype correlation study (clinical, hormonal, and histol...

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype and streak gonad diagnosed late because of absent of pubertal development and primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Family case reports: Al...