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A Rare Presentation of 17α Hydroxylase/17,20 Lyase Deficiency in a Patient with non-Hodgkin's Lymphoma: A Case Report.
Tekkeli, Niran; Kurt, Ilknur; Yalman, Nevin; Timur, Çetin; Demir, Senol; Sagsak, Elif.
Afiliación
  • Tekkeli N; Yeditepe University, School of Medicine, Department of Pediatric.
  • Kurt I; Marmara University, School of Medicine, Department of Pediatric Endocrinology.
  • Yalman N; Yeditepe University, School of Medicine, Department of Pediatric Hematology.
  • Timur Ç; Yeditepe University, School of Medicine, Department of Pediatric Hematology.
  • Demir S; Marmara University, School of Medicine, Department of Medical Genetics.
  • Sagsak E; Yeditepe University, School of Medicine, Department of Pediatric Endocrinology.
J Clin Res Pediatr Endocrinol ; 2024 Jun 24.
Article en En | MEDLINE | ID: mdl-38912718
ABSTRACT
17α­hydroxylase/17,20­lyase 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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Clin Res Pediatr Endocrinol Año: 2024 Tipo del documento: Article Pais de publicación: Turquía
Texto completo
Añadir a Mi BVS
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Clin Res Pediatr Endocrinol Año: 2024 Tipo del documento: Article Pais de publicación: Turquía