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17-Alpha-Hydroxylase/17,20 Lyase Deficiency

MedGen UID:
1372371
•Concept ID:
C4329212
•
Disease or Syndrome

Definition

Decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV17-Alpha-Hydroxylase/17,20 Lyase Deficiency

Professional guidelines

PubMed

Diagnosis and management of congenital adrenal hyperplasia.
New MI
Annu Rev Med 1998;49:311-28. doi: 10.1146/annurev.med.49.1.311. PMID: 9509266

Recent clinical studies

Etiology

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.
Xia J, Liu F, Wu J, Xia Y, Zhao Z, Zhao Y, Ren H, Kong X
Endocr Pract 2021 Feb;27(2):137-145. Epub 2020 Dec 8 doi: 10.4158/EP-2020-0478. PMID: 33547012
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
Huang H, Wang C, Tian Q
Clin Endocrinol (Oxf) 2017 Apr;86(4):621-627. Epub 2016 Nov 10 doi: 10.1111/cen.13255. PMID: 27862157

Diagnosis

A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
Chen H, Chen Y, Mao H, Huang H, Lou X
Blood Press 2023 Dec;32(1):2195008. doi: 10.1080/08037051.2023.2195008. PMID: 37088984
Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.
Xia J, Liu F, Wu J, Xia Y, Zhao Z, Zhao Y, Ren H, Kong X
Endocr Pract 2021 Feb;27(2):137-145. Epub 2020 Dec 8 doi: 10.4158/EP-2020-0478. PMID: 33547012
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
Huang H, Wang C, Tian Q
Clin Endocrinol (Oxf) 2017 Apr;86(4):621-627. Epub 2016 Nov 10 doi: 10.1111/cen.13255. PMID: 27862157
An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency.
Küçükemre-Aydın B, Öğrendil-Yanar Ö, Bilge I, Baş F, Poyrazoğlu Ş, Yılmaz A, Emre S, Bundak R, Saka N, Darendeliler F
Turk J Pediatr 2015 May-Jun;57(3):277-81. PMID: 26701948
New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.
Katsumata N, Satoh M, Mikami A, Mikami S, Nagashima-Miyokawa A, Sato N, Yokoya S, Tanaka T
Horm Res 2001;55(3):141-6. doi: 10.1159/000049986. PMID: 11549876

Therapy

Case report: 17 alpha-hydroxylase/17,20-lyase deficiency: a rare cause of endocrine hypertension.
Hermans C, de Plaen JF, de Nayer P, Maiter D
Am J Med Sci 1996 Sep;312(3):126-9. doi: 10.1097/00000441-199609000-00006. PMID: 8783679

Prognosis

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.
Xia J, Liu F, Wu J, Xia Y, Zhao Z, Zhao Y, Ren H, Kong X
Endocr Pract 2021 Feb;27(2):137-145. Epub 2020 Dec 8 doi: 10.4158/EP-2020-0478. PMID: 33547012
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
Huang H, Wang C, Tian Q
Clin Endocrinol (Oxf) 2017 Apr;86(4):621-627. Epub 2016 Nov 10 doi: 10.1111/cen.13255. PMID: 27862157
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling.
Martin RM, Oliveira PS, Costa EM, Arnhold IJ, Mendonca BB
Arq Bras Endocrinol Metabol 2008 Nov;52(8):1317-20. doi: 10.1590/s0004-27302008000800018. PMID: 19169487
Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.
Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JS
Hum Genet 1989 Jun;82(3):285-6. doi: 10.1007/BF00291172. PMID: 2786493
Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.
Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR
Mol Endocrinol 1988 Jun;2(6):564-70. doi: 10.1210/mend-2-6-564. PMID: 2843762

Clinical prediction guides

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.
Xia J, Liu F, Wu J, Xia Y, Zhao Z, Zhao Y, Ren H, Kong X
Endocr Pract 2021 Feb;27(2):137-145. Epub 2020 Dec 8 doi: 10.4158/EP-2020-0478. PMID: 33547012
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
Huang H, Wang C, Tian Q
Clin Endocrinol (Oxf) 2017 Apr;86(4):621-627. Epub 2016 Nov 10 doi: 10.1111/cen.13255. PMID: 27862157
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling.
Martin RM, Oliveira PS, Costa EM, Arnhold IJ, Mendonca BB
Arq Bras Endocrinol Metabol 2008 Nov;52(8):1317-20. doi: 10.1590/s0004-27302008000800018. PMID: 19169487
Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Imai T, Globerman H, Gertner JM, Kagawa N, Waterman MR
J Biol Chem 1993 Sep 15;268(26):19681-9. PMID: 8396144
Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR
J Biol Chem 1989 Oct 25;264(30):18076-82. PMID: 2808364

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