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About 58 results

ALLMedicine™ Aromatase Deficiency Center

Research & Reviews  23 results

Role of sex steroids hormones in the regulation of bone metabolism in men: Evidence fro...
https://doi.org/10.1016/j.beem.2022.101624
Best Practice & Research. Clinical Endocrinology & Metabo... Szulc P

Feb 16th, 2022 - Sex steroids regulate bone metabolism in young men during growth and consolidation. Their deficit during growth compromises longitudinal and radial growth of bones and has a negative impact on body height, bone width, peak areal bone mineral densi...

Congenital disorders of estrogen biosynthesis and action.
https://doi.org/10.1016/j.beem.2021.101580
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 ...

Aromatase deficiency in an Ontario Old Order Mennonite family.
https://doi.org/10.1515/jpem-2021-0229
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...

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...

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