A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency

[11] Miura K(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 Gynecol. Endocrinol. 36 739-742

[12] Yasuda K(2020)Atypical presentation in patients with 17 α-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature Turk. J. Pediatr. 62 851-857

[13] Yanase T(2004)The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents Pediatrics 114 555-576

[14] Yamakita N(1969)Variations in pattern of pubertal changes in girls Arch. Dis. Child 44 291-303

[15] Sasano H(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet. Med. 17 405-24

[16] Nawata H(1986)Assignment of the gene for adrenal P450c17 (steroid 17 alpha hydroxylase/17,20 lyase) to human chromosome 10 J. Clin. Endocrinol. Metab. 63 789-791

[17] Inoue M(2015)Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17a-hydroxylase deficiency Sex. Dev. 9 91-97

[18] Fukaya T(1981)Microsomal cytochrome P-450 from neonatal pig testis: two enzymatic activities (17a-hydroxylase and c17,20-lyase) associated with one protein Biochemistry 20 4037-4042

[19] Shizuta Y(2003)Familial partial 17,20-desmolase and 17alpha-hydroxylase deficiency presenting as infertility J. Assist. Reprod. Genet. 20 21-28

[20] Zhang M(2014)Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17‑hydroxylase/17,20‑lyase deficiency and isolated 17,20‑lyase deficiency Fertil. Steril. 101 317-322

[11] Miura K(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 Gynecol. Endocrinol. 36 739-742

[12] Yasuda K(2020)Atypical presentation in patients with 17 α-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature Turk. J. Pediatr. 62 851-857

[13] Yanase T(2004)The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents Pediatrics 114 555-576

[14] Yamakita N(1969)Variations in pattern of pubertal changes in girls Arch. Dis. Child 44 291-303

[15] Sasano H(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet. Med. 17 405-24

[16] Nawata H(1986)Assignment of the gene for adrenal P450c17 (steroid 17 alpha hydroxylase/17,20 lyase) to human chromosome 10 J. Clin. Endocrinol. Metab. 63 789-791

[17] Inoue M(2015)Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17a-hydroxylase deficiency Sex. Dev. 9 91-97

[18] Fukaya T(1981)Microsomal cytochrome P-450 from neonatal pig testis: two enzymatic activities (17a-hydroxylase and c17,20-lyase) associated with one protein Biochemistry 20 4037-4042

[19] Shizuta Y(2003)Familial partial 17,20-desmolase and 17alpha-hydroxylase deficiency presenting as infertility J. Assist. Reprod. Genet. 20 21-28

[20] Zhang M(2014)Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17‑hydroxylase/17,20‑lyase deficiency and isolated 17,20‑lyase deficiency Fertil. Steril. 101 317-322