A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 ?-hydroxylase deficiency due to a novel variant in CYP17A1 gene
Yükleniyor...
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Taylor & Francis Group
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Aims: 17α-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAH) which is inherited autosomal recessive. It occurs result of a mutations in gene cytochrome (CYP)17A1, which encodes both 17α-hydroxylase and 17,20-lyase enzymes. The main clinical findings of the disease are delayed puberty, primary amenorrhea in females, and disorders of sex development (DSD) in males. Also, hypertension and hypokalemia can be seen in both sexes. In this paper, we describe the clinical and genetic changes of two patients with 46,XY and 46,XX karyotypes from two different families who were diagnosed with complete 17α-hydroxylase enzyme deficiency.Methods: In this study various methods including clinical, hormonal, radiological and genetic analyzes were used. Blood samples were obtained for genetic tests. Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of the CYP17 gene were assessed by polymerase chain reaction and direct sequencing analysis.Results: 17α-hydroxylase deficiency was diagnosed in 2 patients with 46,XX and 46,XY karyotype who presented with hypertension and delayed puberty. The pQ80 * (c.238C > T) mutation detected in both cases was evaluated as a novel variant.
Açıklama
Anahtar Kelimeler
17α-hydroxylase, CYP17A1 gene, Delayed puberty, Hypertension, Primary amenorrhea
Kaynak
Gynecological Endocrinology
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
36
Sayı
8
Künye
Ünal, E., Yıldırım, R., Taş, F. F., Tekin, S., Ceylaner, S., Haspolat, Y. K. ve diğerleri. (2020). A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene. Gynecological Endocrinology, 36(8), 739-742.
