Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: Effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism

Molecular and Cellular Endocrinology

Volumn 399, Issue , 2015, Pages 32-42

  Chen, Zhike ^a,b   Wang, Ou ^a   Nie, Min ^a   Elison, Kathleen ^b   Zhou, Dujin ^b   Li, Mei ^a   Jiang, Yan ^a   Xia, Weibo ^a   Meng, Xunwu ^a   Chen, Shiuan ^b   Xing, Xiaoping ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

Aromatase; Aromatase deficiency; CYP19A1; Estrogen replacement; Insulin resistance; Metabolic syndrome

Indexed keywords

AROMATASE; CHOLESTEROL; CONJUGATED ESTROGEN; ESTRADIOL; FOLLITROPIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; LEUCINE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LUTEINIZING HORMONE; TESTOSTERONE; TRIACYLGLYCEROL; TYROSINE; CYP19A1 PROTEIN, HUMAN; ESTROGEN; GLUCOSE;

ACANTHOSIS NIGRICANS; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AROMATASE DEFICIENCY; ARTICLE; BONE AGE; BONE DENSITOMETRY; BONE MATURATION; BONE METABOLISM; BONE TURNOVER; BRAIN RADIOGRAPHY; CASE REPORT; CHINESE; CRYSTAL STRUCTURE; DNA SEQUENCE; ECHOGRAPHY; ENZYME ACTIVE SITE; EPIPHYSIS; ESTROGEN THERAPY; EXON; GENETIC ANALYSIS; GLUCOSE METABOLISM; GYNECOMASTIA; HEPATOMEGALY; HETEROZYGOTE; HUMAN; HYPERINSULINEMIA; INSULIN RELEASE; INSULIN RESISTANCE; LIPID METABOLISM; LIVER METABOLISM; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ORAL GLUCOSE TOLERANCE TEST; OSTEOPENIA; PROTEIN FUNCTION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SITE DIRECTED MUTAGENESIS; THREE DIMENSIONAL IMAGING; VALGUS KNEE; WESTERN BLOTTING; 46, XX DISORDERS OF SEX DEVELOPMENT; ANIMAL; BONE; BONE DENSITY; CHO CELL LINE; CRICETULUS; DEFICIENCY; DRUG EFFECTS; GENETICS; INFERTILITY, MALE; LIVER; METABOLISM; METABOLISM, INBORN ERRORS; MOLECULAR MODEL; PATHOLOGY; PROTEIN TERTIARY STRUCTURE;

46, XX DISORDERS OF SEX DEVELOPMENT; ADULT; AMINO ACID SUBSTITUTION; ANIMALS; AROMATASE; BONE AND BONES; BONE DENSITY; CHO CELLS; CRICETULUS; ESTROGEN REPLACEMENT THERAPY; ESTROGENS; GLUCOSE; GYNECOMASTIA; HUMANS; INFERTILITY, MALE; LIPID METABOLISM; LIVER; MALE; METABOLISM, INBORN ERRORS; MODELS, MOLECULAR; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY;

EID: 84908596824     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2014.09.016     Document Type: Article

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