17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases - Takeaways - MDSpire

17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases

  • By

  • Annabelle L Willemsen

  • David J Torpy

  • Sunita M C De Sousa

  • Henrik Falhammar

  • R Louise Rushworth

  • November 6, 2024

  • 0 min

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  • 1

    Homozygous pathogenic variants in the CYP17A1 gene cause 17α-hydroxylase/17,20-lyase deficiency, leading to hypertension and sexual development disorders.

  • 2

    The study analyzed 465 patients with 17-OHD, revealing common symptoms like hypertension (57%) and primary amenorrhea (38.3%).

  • 3

    Frequent variants included p.Y329Kfs, p.D487_F489del, and p.W406R, with more severe variants linked to hypocortisolism and combined hypokalemia.

  • 4

    Male patients are diagnosed earlier due to genital dysplasia, while females are often diagnosed later due to primary amenorrhea and hypertension.

  • 5

    Patients with disordered sexual development and hypertension should be evaluated for 17-OHD to ensure timely diagnosis and management.

Original Source(s)

17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases

  • by Annabelle L Willemsen, David J Torpy, Sunita M C De Sousa, Henrik Falhammar, R Louise Rushworth

  • November 6, 2024

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