Amish, Mennonite, and Hutterite
Genetic Disorder Database

Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency

Disorder
OMIM #: #201810  (Click to access OMIM database)
Disorder: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 
Also known as: 3-β-OH-steroid dehydrogenase deficiency
3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY
3-BETA-HSD DEFICIENCY (HSDB)
ADRENAL HYPERPLASIA II 
Clinical
Phenotype: adrenal hyperplasia, salt loss, hyponatremia, acute adrenal crisis, hyperkalemia, ambiguous genitalia, adrenal insufficiency, premature pubic hair development, Males have; ambiguous genitalia, hypospadias, poor virilization, gynecomastia Females present with; clitoromegaly, labial fusion, hirsutism, clitoromegaly, polycystic ovaries  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: HSD3B2
Base Change: G>A, at nucleotide 35
Amino Acid Change: gly 12 --> glu
Last updated: 2018-04-20 

References
Benkert AR, Young M, Robinson D, Hendrickson C, Lee PA, Strauss KA. (2015) Severe salt-losing 3β-hydroxysteroid dehydrogenase deficiency: treatment and outcomes of HSD3B2 c.35G>A homozygotes. J Clin Endocrinol Metab Aug;100(8):E1105-15.
PubMed ID: 26079780 
Puffenberger EG. (2003) Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet C Semin Med Genet 121(1): 18-31.
PubMed ID: 12888983 
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

Back