Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature
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DOI: 10.1111/cen.14277
Abstract: 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. read more here.
Keywords: series chinese; case series; aromatase deficiency; deficiency case ... See more keywords
SAT-286 A Previously Undescribed Combination of Aromatase Deficiency and Non-Classical Congenital Adrenal Hyperplasia in an Hispanic Teenage Male
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DOI: 10.1210/js.2019-sat-286
Abstract: Abstract Background: Aromatase deficiency (AD) is a rare autosomal recessive genetic disorder caused by loss of function mutation in CYP19A1 leading to normal androgen but low estrogen levels. As a result men with this condition… read more here.
Keywords: growth; non classical; age; aromatase deficiency ... See more keywords
Aromatase deficiency in an Ontario Old Order Mennonite family
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0229
Abstract: Abstract Objectives 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… read more here.
Keywords: old order; aromatase deficiency; order mennonite; mennonite family ... See more keywords