J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-74755 | DOI: 10.4274/jcrpe.galenos.2024.2024-3-13

A Rare Presentation of 17α Hydroxylase/17,20 Lyase Deficiency in a Patient with non-Hodgkin’s Lymphoma: A Case Report

Niran Tekkeli¹, Ilknur Kurt², Nevin Yalman³, Çetin Timur³, Þenol Demir⁴, Elif Saðsak^5
1Yeditepe University, School of Medicine, Department of Pediatric
²Marmara University, School of Medicine, Department of Pediatric Endocrinology
³Yeditepe University, School of Medicine, Department of Pediatric Hematology
⁴Marmara University, School of Medicine, Department of Medical Genetics
⁵Yeditepe University, School of Medicine, Department of Pediatric Endocrinology

17α‑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 (ACTH). 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 hypergonodotropic hypogonadism while receiving chemotherapy.

Keywords: 17α, -Hydroxylase deficiency, CYP17A1 gene, hyperpigmentation, hypergonadotrotropic hypogonadism, disorders/differences in sex development

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