Calcif Tissue Int
January 2025
Aromatase deficiency (ORPHA:91; OMIM: 613,546) is a rare, autosomal recessive disorder due to loss of function mutations in the CYP19A1 gene, described in both genders with an estimated incidence below 1/1000000. While in female the clinical manifestations generally occur at birth or in early infancy, and mainly involve sexual characteristics, in men clinical signs of aromatase deficiency mostly occur in puberty and especially in late puberty, so that diagnosis is generally established after the second decade due to tall stature, unfused epiphyses and reduced bone mass. Here we review the available information concerning the skeletal and extraskeletal phenotype and the clinical management of bone health in patients with aromatase CYP19A1 gene mutations.
View Article and Find Full Text PDFPurpose: Consistency in delineation of pelvic lymph node regions for prostate cancer elective nodal radiation therapy is still challenging despite current guidelines. The aim of this study was to evaluate the interobserver variability in elective lymph node delineation in the PEACE V STORM randomized phase 2 trial for oligorecurrent nodal prostate cancer.
Methods And Materials: Twenty-three centers were asked to delineate the elective pelvic nodal clinical target volume (CTV) of a postoperative oligorecurrent nodal prostate cancer benchmark case using a modified Radiation Therapy Oncology Group (RTOG) 2009 template (upper limit at the L4/L5 interspace).
Purpose: Predictors of long-term toxicity after prostate cancer re-irradiation are scarce. In this study, we retrospectively assessed the impact of clinical/dosimetric data on late genitourinary (GU) toxicity on fourteen radio-recurrent prostate cancer patients treated with salvage radiotherapy (RT).
Material And Methods: To identify dose parameters and clinical factors potentially associated to severe long-term GU toxicity, study population was stratified in two groups according to toxicity, including one low-grade group (grade ≤ 2, = 6) and one high-grade group (grade ≥ 3, = 8).