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17,20-lyase deficiency, isolated

MedGen UID:
479479
•Concept ID:
C3277849
•
Disease or Syndrome
Synonyms: 17,20-Lyase Deficiency, Isolated; 17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Complete; 17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Partial
 
Monarch Initiative: MONDO:0800378
OMIM®: 202110; 609300

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

Diagnosis

CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency.
Wang YP, Zhao YJ, Zhou GY, He B
Gynecol Endocrinol 2014 Jun;30(6):456-60. Epub 2014 Mar 6 doi: 10.3109/09513590.2014.895980. PMID: 24597476

Prognosis

A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
Guo X, Wang H, Xiang Y, Ren X, Jiang S
Gynecol Endocrinol 2021 Jan;37(1):97-100. Epub 2020 Sep 18 doi: 10.1080/09513590.2020.1822799. PMID: 32945709

Clinical prediction guides

A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
Guo X, Wang H, Xiang Y, Ren X, Jiang S
Gynecol Endocrinol 2021 Jan;37(1):97-100. Epub 2020 Sep 18 doi: 10.1080/09513590.2020.1822799. PMID: 32945709

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