title: Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.
abstract: 17-hydroxylase/17,20-lyase deficiency (17-OHD), a rare autosomal recessive defect in adrenal and gonadal steroidogenesis, causes absence of secondary sexual characteristics and frequently associated with hypertension and hypokalemia. Here, we report a 46,XY case who had normal potassium levels and no hypertension. Our patient was a 2.5-year-old female admitted with female external genitalia and inguinal swelling. Pathology of biopsy revealed that this gonad was a testis. Karyotype was 46,XY. She had no hypertension and no hypokalemia. Serum luteinizing hormone and follicle-stimulating hormone levels were high; testosterone, dehydroepiandrosterone sulfate, and androstenedione were low. Human chorionic gonadotrophin stimulation resulted in partial testosterone response. She was initially diagnosed as partial gonadal dysgenesis or testosterone synthesis defect. In her follow-up after noticing low normal potassium levels at age 9 years, progesterone level was measured and detected to be high. Adrenocorticotropic hormone-stimulated steroid measurements were consistent with 17-OHD. Genetic analyses revealed p. R96Q (c.287G>A) homozygous mutation on exon 1 of CYP17A1 gene. In conclusion, evaluation of 46,XY disorder of sex development patients must include serum potassium levels, and near low levels of potassium levels should also suggest 17-OHD despite absence of hypertension or remarkable hypokalemia. Testosterone synthesis defects must be excluded before establishing the diagnosis of partial gonadal dysgenesis.
authors.affiliation: Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey, E-mail: epurcuklu@gmail.com.
authors.forename: Emine
authors.initials: E
authors.lastname: Çamtosun
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Şıklar
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.forename: Pınar
authors.initials: P
authors.lastname: Kocaay
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006061:Gonadal Dysgenesis, 46,XY; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D011188:Potassium / Q000097:blood*; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics / Q000378:metabolism*
chemical_list: D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013254:Steroid 17-alpha-Hydroxylase; D011188:Potassium
keywords: 17-hydroxylase deficiency; 46; XY disorder of sex development; diagnose potassium.