A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.
Aslı BeştaşSemih BoluEdip UnalAmine Aktar KarakayaRecep ErozMehmet TekinYusuf Kenan HaspolatPublished in: Endocrine (2021)
P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients.