ESPE Abstracts

17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed mostly in the testes and converts the inactive Δ4-androstenedione (A) to testosterone (T). 17β-HSD3 deficiency is a rare autosomal recessive disorder and the most common testosterone biosynthesis defect leading to 46,XY Disorders of Sex Development (DSD). To date, more than 40 mutations of HSD17B3 have been reported. 46,XY patients with 17β-HSD3 deficiency would present with wide variable ...

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...