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A Rare Enzymatic Defect, True Isolated 17,20-Lyase Deficiency Leading to Endocrine Disorders and Infertility: Case Report Publisher Pubmed



Afsar J1 ; Kachuei A1 ; Hashemipour M2 ; Larkiharchegani A3 ; Shabib S4
Authors
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Authors Affiliations
  1. 1. Department of Internal Medicine, School of Medicine, Al-Zahra Hospital, Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Department of Pediatrics, School of Medicine, Imam Hossein Hospital, Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Department of Pharmacology and Toxicology, School of Pharmacy, Hamadan University of Medical Sciences, Hamadan, Iran
  4. 4. Department of Clinical Pharmacy and Pharmacy Practice, School of Pharmacy, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Gynecological Endocrinology Published:2020


Abstract

The cytochrome P450 17A1 catalyzes the formation of 17-hydroxysteroids and 17-ketosteroid. Most defects in CYP17A1 impair both enzymatic activities and cause a combined 17α-hydroxylase/17,20-lyase deficiency, which impairs hormone production (cortisol and sex steroids), sexual development, and puberty. Isolated 17,20-lyase deficiency is usually defined by evidently normal activity of 17α-hydroxylase with a dramatic decline of 17,20-lyase activity or complete inactivity. The changes in enzyme activity lead to a lack in the production of sex steroids with normal levels of glucocorticoid and mineralocorticoid hormones. A 24-years-old married woman, as a product of a consanguineous marriage, presented with infertility and a background marked by primary amenorrhea. Laboratory data showed low normal serum cortisol levels and low levels of 17-hydroxyprogesterone. Also, her adrenal androgens were low but estradiol was normal. The chromosomal investigation uncovered a male karyotype of 46, XY. These clinical and laboratory evidence confirm the determination of an isolated 17,20-lyase deficiency in a genotypic male. © 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group.