AROMATASE DEFICIENCY

Question 1

What is  AROMATASE DEFICIENCY?

Accepted Answer

rare
autosomal recessive
mutation in the CYP19A1 gene
increased aromatase activity ->gynecomastia -decreased aromatase acitivity -> aromatase deficiency syndrome aromatase enzyme complex catalyzes the conversion of androgens to estrogen (ovary, testis, placenta, brain, adipose tissue)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Aromatase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613546

Question 4

Which enzymes are involved?

Accepted Answer

Aromatase

Disease	AROMATASE DEFICIENCY
Synonym	AROMATASE; GYNECOMASTIA DUE TO INCREASED AROMATASE ACTIVITY
OMIM	613546 OMIM = Online Mendelian Inheritance of Men
Orphanet	91
Protein (UniProt)	Aromatase
ExPASy	1.14.14.14
Gene locus	15q21.2
ICD	E25.8
Summary	rare autosomal recessive mutation in the CYP19A1 gene increased aromatase activity ->gynecomastia -decreased aromatase acitivity -> aromatase deficiency syndrome aromatase enzyme complex catalyzes the conversion of androgens to estrogen (ovary, testis, placenta, brain, adipose tissue)
Laboratory findings	Androstenedione inc (plasma) Estradiol dec (plasma) Follicle stimulating hormone (FSH) inc (plasma) Luteinizing hormone (LH) inc (plasma) Testosterone inc (plasma)
Symptoms	acne amenorrhea genitalia, ambigous gynecomastia obesity onset, childhood onset, infancy onset, neonatal polycystic ovaries tall stature virilisation