A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report|
Nazari, Majid; Mehrjardi, Mohammad Yahya Vahidi; Neghab, Nosrat; Aghabagheri, Mahdi & Ghasemi, Nasrin
Background: Congenital adrenal hyperplasia is a rare autosomal recessive disorder
where the mutation in P450 family 17 subfamily A member 1 gene (CYP17A1) is involved
in its etiology. The disorder represents itself with low blood levels of estrogens,
androgens, and cortisol that generally couples with hypertension, Hypokalemia, sexual
primary amenorrhea, infantilism and in affected individuals.
Case: In this study, the CYP17A1 gene in a 14-year-old female was examined. The
karyotype of the patient was 46, XX, and the analysis of the CYP17A1 gene by Sanger
sequencing revealed a novel homozygous deletion c.1052-1054CCT which led to
isolated 17,20-lyase deficiency.
Conclusion: In conclusion, this study report an in-frame deletion which results in
isolated 17, 20-lyase deficiency, and the mutation might be used for diagnosis in other
patients with distinctive clinical symptoms.
Congenital adrenal hyperplasia (CAH); CYP17A1 gene; Ambiguous genitalia.