Publications by authors named "Martina Broecker"
J Clin Endocrinol Metab
December 2002
Article Synopsis
- A novel mutation of the CYP19 gene causing aromatase deficiency was identified in a 27-year-old male with consanguineous parents, leading to disrupted estrogen production and associated bone issues.
- The patient exhibited certain physical abnormalities but retained normal male secondary sexual characteristics and was treated with transdermal estradiol, which successfully normalized hormone levels and initiated bone maturation.
- After six months of treatment, significant improvements were observed in bone density and age, indicating the critical role of estrogen in bone health and formation.
