A case of Aromatase deficiency due to a novel CYP19A1 mutation

BMC Endocrine Disorders

Volumn 14, Issue , 2014, Pages

  Gagliardi, Lucia ^a,b,c   Scott, Hamish S ^b,c,d,e   Feng, Jinghua ^b,d   Torpy, David J ^a,c  

^a ROYAL ADELAIDE HOSPITAL   (Australia)

^b CENTRE FOR CANCER BIOLOGY   (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

Author keywords

Androgens; Aromatase deficiency; Pubertal development; Streak ovaries

Indexed keywords

ALENDRONIC ACID; AROMATASE; CALCIUM CARBONATE; ERGOCALCIFEROL; ESTRADIOL; ESTROGEN; GLUCOSE; PROTOPORPHYRIN;

ABDOMINAL OBESITY; ADULT; AMBIGUOUS GENITALIA; AROMATASE DEFICIENCY; ARTICLE; BONE DENSITOMETRY; BORDERLINE HYPERTENSION; CANCER RISK; CASE REPORT; CLITOROMEGALY; ESTROGEN SYNTHESIS; ESTROGEN THERAPY; EXON; FATTY LIVER; FEMALE; FRACTURE; GENE DUPLICATION; GENE MUTATION; HEMIZYGOSITY; HIP CIRCUMFERENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; OBESITY; OSTEOPENIA; OSTEOPOROSIS; OVARY FOLLICLE; PROMOTER REGION; PROTEIN SECONDARY STRUCTURE; PUBERTY; SINGLE NUCLEOTIDE POLYMORPHISM; TALL STATURE; TURNER SYNDROME; UROGENITAL SINUS;

EID: 84896319895     PISSN: None     EISSN: 14726823     Source Type: Journal    
DOI: 10.1186/1472-6823-14-16     Document Type: Article

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