AROMATASE EXCESS SYNDROME (AEXS)

Question 1

What is  AROMATASE EXCESS SYNDROME (AEXS)?

Accepted Answer

very rare

autosomal dominant

Overexpression of CYP19A1

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 139300

Question 3

Which enzymes are involved?

Accepted Answer

Aromatase

Disease	AROMATASE EXCESS SYNDROME (AEXS)
Synonym	AROMATASE ACTIVITY, INCREASED
OMIM	139300 OMIM = Online Mendelian Inheritance of Men
Orphanet	178346
Gene locus	15q21.2
ICD	E30.1
Summary	very rare autosomal dominant Overexpression of CYP19A1
Laboratory findings	17-Hydroxyprogesterone inc (urine)
Symptoms	bone age, advanced gynecomastia hypogonadism onset, adolescent onset, childhood