Simple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report

Frontiers in Endocrinology, vol. 17, pp. 1759387

Abstract

The simple virilizing (SV) form of 21-hydroxylase deficiency (21-OHD) is primarily characterized by androgen excess. Gonadal dysfunction is widely acknowledged; however, systemic complications, including renal injury, are often overlooked. This report presents a rare case involving a 25-year-old female diagnosed with SV 21-OHD, who subsequently experienced unanticipated renal insufficiency and secondary polycythemia. Genetic analysis confirmed compound heterozygous mutations in the CYP21A2 gene. The patient demonstrated significant hyperandrogenemia and polycythemia driven by erythropoietin. Following erythrocytapheresis and glucocorticoid replacement therapy, androgen levels normalized, resulting in marked renal function recovery and resolution of polycythemia. This case and a mechanistic review illustrate the potential interplay between chronic hyperandrogenism, erythropoiesis dysregulation, and kidney injury, underscoring the importance of timely hormonal management for the preservation of long-term renal function in CAH (Congenital adrenal hyperplasia).

Authors 7

1. Liang Lü

   Liaocheng People's Hospital

   Affiliation as printed

   Department of Endocrinology, Liaocheng People’s Hospital

2. Xudong Su

   Liaocheng People's Hospital

   Affiliation as printed

   Department of Endocrinology, Liaocheng People’s Hospital

3. Yifan Zhang

   Liaocheng People's Hospital

   Affiliation as printed

   Department of Endocrinology, Liaocheng People’s Hospital

4. Zheng Wang Aachen Institute of Neuropathology

   RWTH Aachen University · Universitätsklinikum Aachen

   Affiliation as printed

   Institute of Neuropathology, University Hospital Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen

5. Guifeng Zhang corresponding Aachen Institute of Neuropathology

   RWTH Aachen University · Universitätsklinikum Aachen

   Affiliation as printed

   Institute of Neuropathology, University Hospital Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen

6. Jie Bai corresponding

   Liaocheng People's Hospital

   Affiliation as printed

   Department of Endocrinology, Liaocheng People’s Hospital

7. J. Li corresponding

   Liaocheng People's Hospital

   Affiliation as printed

   Department of Endocrinology, Liaocheng People’s Hospital