ALLMedicine™ Aromatase Deficiency Center
Research & Reviews 22 results
Best Practice & Research. Clinical Endocrinology & Metabo... Fukami M, Ogata T
Sep 21st, 2021 - Estrogens regulate pubertal development and reproductive function in women, spermatogenesis in men, and bone turnover and metabolic conditions in individuals of both sexes. Estradiol, the major estrogen in humans, is synthesized from testosterone ...
Journal of Pediatric Endocrinology & Metabolism : JPEM; Kim SY, Colaiacovo S et. al.
Aug 5th, 2021 - Aromatase deficiency is a rare autosomal recessive disease that results in the absence of aromatase. In females it presents with ambiguous genitalia and lack of secondary sexual characteristics during puberty. Aromatase deficiency is not attribute...
Clinical Endocrinology; Fan L, Zhang B et. al.
Jul 6th, 2020 - Aromatase deficiency (AD) caused by cytochrome P450 family 19 subfamily A polypeptide 1 (CYP19A1) variants is characterized by a deficiency in androgen-to-oestrogen conversion. To investigate the clinical characteristics and accurate management of...
The Journal of Clinical Endocrinology and Metabolism; Parween S, Fernández-Cancio M et. al.
Feb 16th, 2020 - Mutations in cytochrome P450 oxidoreductase (POR) cause a form of congenital adrenal hyperplasia (CAH). We report a novel R550W mutation in POR identified in a 46,XX patient with signs of aromatase deficiency. Analysis of aromatase deficiency from...
PloS One; Rubinow KB, den Hartigh LJ et. al.
Jan 24th, 2020 - Estrogens are important for maintaining metabolic health in males. However, the key sources of local estrogen production for regulating energy metabolism have not been fully defined. Immune cells exhibit aromatase activity and are resident in meta...