Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome

2006 ◽  
Vol 140A (20) ◽  
pp. 2236-2240 ◽  
Author(s):  
Elizabeth A. Parker ◽  
Karine Hovanes ◽  
John Germak ◽  
Forbes Porter ◽  
Deborah P. Merke
Keyword(s):  
Klinefelter Syndrome ◽  
Chromosome 6 ◽  
Hydroxylase Deficiency ◽  
Uniparental Isodisomy ◽  
21 Hydroxylase Deficiency

21-Hydroxylase Deficiency and Klinefelter Syndrome in an Adult Man: Striking a Balance Between Androgen Excess and Insufficiency

2008 ◽  
Vol 29 (6) ◽  
pp. 605-609 ◽  
Author(s):  
A. Balestrieri ◽  
L. Zirilli ◽  
B. Madeo ◽  
E. Pignatti ◽  
G. Rossi ◽  
...  
Keyword(s):  
Klinefelter Syndrome ◽  
Hydroxylase Deficiency ◽  
Androgen Excess ◽  
21 Hydroxylase Deficiency

scholarly journals Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.

1998 ◽  
Vol 35 (12) ◽  
pp. 1014-1019 ◽  
Author(s):  
A U Lopez-Gutierrez ◽  
L Riba ◽  
M L Ordonez-Sanchez ◽  
S Ramirez-Jimenez ◽  
M Cerrillo-Hinojosa ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 6 ◽  
Hydroxylase Deficiency ◽  
Genetic Mechanisms ◽  
21 Hydroxylase Deficiency

Adrenal morphology in a large cohort of adult subjects with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2019 ◽  
Author(s):  
Claudia Oriolo ◽  
Daniela Ibarra Gasparini ◽  
Paola Altieri ◽  
Francesca Ruffilli ◽  
Francesca Corzani ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Large Cohort ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency
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