ALLMedicine™ Aromatase Deficiency Center
Research & Reviews 22 results
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...
BMJ Case Reports; Agrawal SS, Chakraborty PP et. al.
Dec 6th, 2019 - A diagnosis of congenital adrenal hyperplasia (CAH) in a '46, XX' newborn with ambiguous genitalia is like a 'knee jerk reaction' of the paediatrician because of its higher frequency and life-threatening consequences if remain undiagnosed and henc...