A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans | Zendy

Sema Akçurin | Zendy; Doğa Türkkahraman | Zendy; WooYoung Kim | Zendy; Erdem Durmaz | Zendy; JaeGook Shin | Zendy; SuJun Lee | Zendy

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A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans

Author(s) -

Sema Akçurin,

Doğa Türkkahraman,

WooYoung Kim,

Erdem Durmaz,

JaeGook Shin,

SuJun Lee

Publication year - 2016

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.2761

Subject(s) - aromatase , frameshift mutation , medicine , mutation , estrogen , androgen excess , endocrinology , gene mutation , polycystic ovary , biology , gene , genetics , breast cancer , cancer , diabetes mellitus , insulin resistance

The CYP19A1 gene product aromatase is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues, particularly in the placenta and gonads. Aromatase deficiency can cause various clinical phenotypes resulting from excessive androgen accumulation and insufficient estrogen synthesis during the pre- and postnatal periods. In this study, our aim was to determine the clinical characteristics and CYP19A1 mutations in three patients from a large Turkish pedigree.

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