Niran TEKKELİ, İlknur KURT, Nevin YALMAN, Çetin TİMUR, Şenol DEMİR, Elif SAĞSAK
Journal of Clinical Research in Pediatric Endocrinology - 2026;18(Suppl 1):1-5
17alpha-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia that causes decreased cortisol and sex steroid levels and leads to high production of adrenocorticotropic hormone. Although affected patients have absolute cortisol deficiency, they do not show clinical signs of cortisol deficiency or hyperpigmentation. These patients most commonly present with delayed puberty and amenorrhea at late pubertal age. Impaired production of sex steroids leads to ambiguous or female external genitalia in affected 46, XY individuals. In this report, we describe a patient with 17OHD who presented with hyperpigmentation and hypergonadotropic hypogonadism while receiving chemotherapy.
