Endocrine Abstracts

Introduction: At puberty, the raise of serum estradiol (E2) (after testosterone conversion) is needed to fuse ephiphyses and to complete bone maturation in boys. Owing to severe hypogonadism and very low circulating testosterone, adult men with congenital hypogonadotropic hypogonadism (CHH) may present with unfused epiphyses and continuing linear growth if androgen deficiency is unrecognized and untreated. In order to establish the minimal amount of sex steroids nee...

Introduction: In type-1 neurofibromatosis (NF-1) there is an increased risk of endocrine tumors, especially pheochromocytomas, whereas thyroid carcinomas seem to be extremely rare, with few cases reported in literature.Subjects and methods: In order to investigate the frequency of hypercalcitoninaemia and medullary thyroid cancer (MTC) in patients with NF-1, we evaluated the thyroid gland morphology and function in 17 patients with NF-1 by i) neck US, ii...

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...