ea0026p624 | Clinical case reports | ECE2011
Galdiero M
, Vitale P
, Cariati F
, Grasso L F S
, Cozzolino A
, Simeoli C
, Afeltra L
, Piscopo C
, Rossi R
, Melis D
, Alviggi C
, Lombardi G
, Colao A
, Pivonello R
Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3), an enzyme converting androstenedione (A) to testosterone (T) in the Leydig cells of the testis, is a rare cause of autosomal recessive 46,XY disorders of sexual development (DSD). A 18-year-old phenotypically female patient presented with primary amenorrhea. She had deep voice, macrocephaly, broad forehead, enlarged nasal tip, macrostomia, facial acne, gynecomastia, left-convex dorsal scoliosis, hypopla...