First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy

2007 ◽  
Vol 40 (18) ◽  
pp. 1435-1436
Author(s):  
Paola Concolino ◽  
Salvatore Corsello ◽  
Cinzia Carrozza ◽  
Angelo Minucci ◽  
Concetta Santonocito ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
South Italy ◽  
First Case

scholarly journals Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman

2014 ◽  
Vol 29 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Waad-Allah S. Mula-Abed ◽  
Fathima B. Pambinezhuth ◽  
Manal K. Al-Kindi ◽  
Noor B. Al-Busaidi ◽  
Hilal N. Al-Muslahi ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Lyase Deficiency ◽  
First Case

Combination of turner syndrome and congenital adrenal hyperplasia: a rare case report

2017 ◽  
Author(s):  
Ivana Sagova ◽  
Dušan Pavai ◽  
Matej Stančik ◽  
Helena Urbankova ◽  
Juliana Gregova ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Rare Case ◽  
Adrenal Hyperplasia ◽  
Rare Case Report

scholarly journals Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report

2018 ◽  
Vol 64 (4) ◽  
pp. 432-436
Author(s):  
Ivana Ságová ◽  
Matej Stančík ◽  
Dušan Pávai ◽  
Daniela Kantárová ◽  
Anton Vaňuga ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Rare Combination ◽  
21 Hydroxylase Deficiency

Non-classic congenital adrenal hyperplasia: Case report

2019 ◽  
Vol 493 ◽  
pp. S252
Author(s):  
R. LÓpez Travieso ◽  
M.D. MartÍn MartÍnez ◽  
E. Mateos RodrÍguez ◽  
J.M. Barrasa FernÁndez ◽  
A. FernÁndez Ferreiro
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Classic Congenital Adrenal Hyperplasia

scholarly journals Congenital adrenal hyperplasia in siblings - case report

2019 ◽  
Vol 9 (3) ◽  
pp. 322-325
Author(s):  
Isabel Madeira ◽  
Daniel Gilban ◽  
Ana Paula Bordallo ◽  
Clarice Medeiros ◽  
Paulo Collett-Solberg ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia

scholarly journals Congenital Adrenal Hyperplasia (Case Report)

2019 ◽  
Vol 16 (9-10) ◽  
pp. 386-90
Author(s):  
Marwoto Marwoto ◽  
Achmad Surjono
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Congenital Abnormality ◽  
Female Infant ◽  
Adrenal Hyperplasia

A case of a female infant with congenital abnormality of the urogenital apparatus, an excess of the urinary 17-ketosteroid, mild salt losing disorder, acceleration of growth ossification, described as congenital adrenal hyperplasia due to 21-hydroxylase defect has been reported.

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