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DELAYED DIAGNOSIS OF A 17-HYDROXYLASE/17,20-LYASE DEFICIENT CASE PRESENTED WITH 46,XY FEMALE: LOW NORMAL POTASSIUM CAN ALERT CLINICIAN.

DELAYED DIAGNOSIS OF A 17-HYDROXYLASE/17,20-LYASE DEFICIENT CASE PRESENTED WITH 46,XY FEMALE: LOW NORMAL POTASSIUM CAN ALERT CLINICIAN.
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Çamtosun E, Şıklar Z, Ceylaner S, Kocaay P, Berberoğlu M,


Çamtosun E, Şıklar Z, Ceylaner S, Kocaay P, Berberoğlu M, (click to view)

Çamtosun E, Şıklar Z, Ceylaner S, Kocaay P, Berberoğlu M,

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Journal of clinical research in pediatric endocrinology 2016 12 23() doi 10.4274/jcrpe.3839
Abstract

17-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive defect in adrenal and gonadal steroidogenesis, causes absence of secondary sexual characteristics frequently associated with hypertension and hyperkalemia. Here we report a 46, XY case, who had normal potassium levels and without hypertension. Here we present a 2,5 years old female admitted with female external genitalia and inguinal swelling. Pathology of biopsy revealed that this gonad is a testis. Karyotype was 46, XY. She had no hypertension and no hypokalemia. Serum LH, FSH levels were high; testosterone, dehydroepiandrosterone sulphate (DHEA-S) and androstenedione were low. Human chorionic gonadotrophin stimulation resulted partial testosterone response. She was diagnosed partial gonadal dysgenesis or testosterone synthesis defect. In her follow up after noticing low normal potassium levels at age nine; progesterone level was studied and detected as high. ACTH stimulated steroid measurements were consistent with 17OHD. Genetic analyses revealed p. R96Q (c.287G>A) homozygous mutation on exon 1 of CYP17A1 gene. In conclusion, evaluation of 46, XY DSD patients must include serum potassium levels and near low levels of potassium levels should also suggest 17OHD despite there is no hypertension or remarkable hypokalemia. Testosterone synthesis defects must be excluded before partial gonadal dysgenesis diagnosis.

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