17-BETA HYDROXYSTEROID DEHYDROGENASE

Question 1

What is  17-BETA HYDROXYSTEROID DEHYDROGENASE?

Accepted Answer

rare

autosomal recessive

mutation in the HSD17B3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 264300

Question 3

Which enzymes are involved?

Accepted Answer

Testosterone 17-beta-dehydrogenase 3

Disease	17-BETA HYDROXYSTEROID DEHYDROGENASE
Synonym	PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
OMIM	264300 OMIM = Online Mendelian Inheritance of Men
Orphanet	752
Protein (UniProt)	Testosterone 17-beta-dehydrogenase 3
ExPASy	1.1.1.51; 1.1.1.64
Gene locus	9q22.32
ICD	E29.1
Summary	rare autosomal recessive mutation in the HSD17B3 gene
Laboratory findings	Adrenal androgens (DHEAS, androstenedione) inc (plasma) Testosterone dec (plasma)
Symptoms	genitalia, ambigous gynecomastia hypothyroidism infertility testes, undescended