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About 53 results

ALLMedicine™ Aromatase Deficiency Center

Research & Reviews  21 results

Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review ...
https://doi.org/10.1111/cen.14277
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...

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Ex...
https://doi.org/10.1210/clinem/dgaa076
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...

Aromatase deficiency in hematopoietic cells improves glucose tolerance in male mice thr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977739
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...

Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency.
https://doi.org/10.1136/bcr-2019-232575
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...

Aromatase deficiency: a rare cause of maternal virilisation and ambiguous genitalia in ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6577309
BMJ Case Reports; Alsaleem M, Miller DE et. al.

Jun 19th, 2019 - Aromatase deficiency: a rare cause of maternal virilisation and ambiguous genitalia in neonates.|2019|Alsaleem M,Miller DE,Saadeh L,Majumdar I,|complications,diagnosis,blood,deficiency,diagnosis,etiology,blood,complications,diagnosis,complications...

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