Female phenotype at birth and postnatal masculinization, during the first months of life, associated with transient 5 alpha-reductase 2 deficiency in a preterm infant. A timing defect syndrome?
Vuerich
M
M
Division of Neonatology, University of Pisa.
Ghirri
P
P
Merusi
I
I
Cuttano
A
A
Baldinotti
F
F
Simi
P
P
Migeon
C J
CJ
Boldrini
A
A
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency*; D012734:Disorders of Sex Development / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D010641:Phenotype; D013997:Time Factors
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C476567:steroid-5alpha-reductase type 2