ArticleJournal of clinical research in pediatric endocrinology2026
A Rare Presentation of 17α-Hydroxylase/17,20-Lyase Deficiency in a Patient with Non-Hodgkin’s Lymphoma: A Case Report
Article in Journal of clinical research in pediatric endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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. 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.
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