Amish, Mennonite, and Hutterite
Genetic Disorder Database

Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency

Disorder
OMIM #: #202110  (Click to access OMIM database)
Disorder: Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 
Also known as: ADRENAL HYPERPLASIA V, 17-ALPHA-HYDROXYLASE DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, INCLUDED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE, INCLUDED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL, INCLUDED 
Clinical
Phenotype: Impaired production of androgens, estrogen, and cortisol, elevated mineralocorticoid production, hypertension, sexual infantism in females, ambiguous genitalia in males 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: CYP17A1
Base Change: c.1435_1438dupATCC
Amino Acid Change: p.Pro480Hisfs*27
Last updated: 2017-11-03 

References
Imai T, Yanase T, Waterman MR, Simpson ER, Pratt JJ. (1992) Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency. Hum Genet Apr;89(1):95-6.
PubMed ID: 1577471 
Kagimoto K, Waterman M, Kagimoto M, Ferreira P, Simpson E, and Winter J. (1989) Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families. Hum Genet 82: 285-286.
PubMed ID: 2786493 
Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR. (1988) 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. Mol Endocrinol Jun;2(6):564-70.
PubMed ID: 2843762 

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