Endocrine Abstracts

We present a novel heterozygous compound inactivating mutation of the CYP19A1 (P450arom) gene in a 26-year-old 46-XY Caucasian Italian male leading to aromatase deficiency. The patient phenotype resembled those observed in the other estrogen-deficient patients: tall stature with continuing linear growth, bilateral genu valgum, unfused epiphyses and delayed bone age, osteopenia. A dysmetabolic syndrome characterized by overweight (BMI 29), hyperinsulinaemia, low serum HDL and i...