scholarly journals Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency

HORMONES ◽  
2016 ◽  
Vol 15 (2) ◽  
pp. 277-282 ◽  
Author(s):  
Vasiliki Koika ◽  
Anastasia Armeni ◽  
Neoklis Georgopoulos
Keyword(s):  
Delayed Diagnosis ◽  
Disorder Of Sex Development ◽  
P450 Oxidoreductase ◽  
Sex Development ◽  
Por Deficiency

scholarly journals Disorder of sex development as a diagnostic clue in the first Spanish known newborn with P450 oxidoreductase deficiency

2013 ◽  
Vol 2013 (jul22 1) ◽  
pp. bcr2013010251-bcr2013010251 ◽  
Author(s):  
D. Sanchez-Garvin ◽  
S. Albaladejo ◽  
B. Ezquieta ◽  
R. Corripio
Keyword(s):  
Disorder Of Sex Development ◽  
P450 Oxidoreductase ◽  
Sex Development ◽  
Diagnostic Clue

scholarly journals Electron transfer by human wild-type and A287P mutant P450 oxidoreductase assessed by transient kinetics: functional basis of P450 oxidoreductase deficiency

2015 ◽  
Vol 468 (1) ◽  
pp. 25-31 ◽  
Author(s):  
Yi Jin ◽  
Mo Chen ◽  
Trevor M. Penning ◽  
Walter L. Miller
Keyword(s):  
Electron Transfer ◽  
European Ancestry ◽  
Wild Type ◽  
Transient Kinetics ◽  
Skeletal Malformation ◽  
P450 Oxidoreductase ◽  
Sex Development ◽  
Cytochrome P450 Oxidoreductase ◽  
Flavin Binding ◽  
Human Wild Type

We show that the cytochrome P450 oxidoreductase (POR) A287P variant, which can lead to skeletal malformation and disordered sex development, found in 40% of patients of European ancestry is characterized by deficient flavin binding and impaired electron transfer from NADPH.

Very late presentation of a disorder of sex development

Andrologia ◽  
2017 ◽  
Vol 49 (10) ◽  
pp. e12831 ◽  
Author(s):  
J. M. Martins ◽  
M. Fraga ◽  
J. Miguens ◽  
F. Tortosa ◽  
B. Marques ◽  
...  
Keyword(s):  
Late Presentation ◽  
Disorder Of Sex Development ◽  
Sex Development

scholarly journals Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

2012 ◽  
Vol 59 (1) ◽  
pp. 42-47 ◽  
Author(s):  
Sezgin Gunes ◽  
Ramazan Asci ◽  
Gülsen Okten ◽  
Fatih Atac ◽  
Onur E. Onat ◽  
...  
Keyword(s):  
Disorder Of Sex Development ◽  
Sex Development

Psychological Problem in Pediatric Disorder of Sex Development Patient and Relatives

2021 ◽  
Vol 1 (2) ◽  
pp. 24-27
Author(s):  
Erlangga Danu Saputro
Keyword(s):  
Sexual Development ◽  
Psychosocial Problems ◽  
Psychological Problem ◽  
Systematic Search ◽  
Basic Data ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Disorder Of Sexual Development ◽  
Counselling Program

Disorder of sexual development (DSD) is one of challenging disorder that has to be done clinically and physiologically. The patients and relatives may experience various psychosocial problems that have an impact on their live. The aim of this study is to look at psychological problem in children with DSD and their relatives. A systematic search was conducted in PubMed for articles representing information on psychological problem to the patient and their relatives. Relevant data were extracted and narratively reviewed. The result of this review can be used as basic data in the development of counselling program for the patients and their relatives.

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