Endocrine Abstracts

Background: Turner syndrome has well recognised cardiovascular complications that appear in up to 40% of the patients and are more common in monosomy X. Left sided obstructive lesions are relatively more frequent and predispose to aortic root dilatation and life threatening aortic dissection. Patients with bicuspid aortic valve, hypertension, coarctation and aortic stenosis are at high risk of aortic dilatation and dissection. Various follow up strategies are in use but there ...

Mutations in the DAX-1 gene are well described in patients with adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism but can be a useful tool in the elucidation of unusual or difficult cases of adrenal insufficiency. As the clinical presentation of congenital adrenal hyperplasia and AHC can be clinically identical, diagnosis in the neonate often depends on the levels of 17-hydroxyprogesterone (17-OHP). If these are unavailable or non-diagnostic, gene analysis c...

Many patients with Turner's and Klinefelter's syndromes develop osteoporosis. We present the cases of three patients with osteoporosis and chromosomal abnormalities.Case 1: A 65 year old women requested evaluation of osteoporosis because of multiple fractures of hip, elbow and vertebrae. She was kyphoscoliotic, having lost 6 cm from her peak height o 1.76 m. Aged 12 she was told that she lacked female reproductive organs and underwent surgery including v...