Abnormal external genitalia

 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1984-2017
012319842017

Papers overview

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2014
2014
CONTEXT Steroid 5α-reductase type 2 deficiency (5α-RD2) is a male-limited, autosomal recessive inherited disease. Affected 46, XY… (More)
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2012
2012
CONTEXT Gender assignment followed by surgery and hormonal therapy is a difficult decision in the management of 45,X/46,XY… (More)
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2011
2011
Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly… (More)
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Review
2011
Review
2011
OBJECTIVE To present prenatal diagnosis of chromosome 1p32-p31 deletion syndrome with NFIA haploinsufficiency, ventriculomegaly… (More)
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2009
2009
We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at… (More)
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2007
2007
We report two sibling cases of Addison's disease without any evidence of sexual precocity, adrenal hyperplasia, or autoimmune… (More)
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2003
2003
OBJECTIVE To report the first case of a 46XX female infant with Smith-Lemli-Opitz syndrome (SLOS), adrenal insufficiency and… (More)
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1996
1996
A 1-year-old boy was referred to us because of abnormal external genitalia; that is, his penis was kinked toward the perineal… (More)
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1990
1990
We have studied nine patients aged 1 month to 16 years with 46, XX karyotypes and testicular tissue. Some of these patients were… (More)
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1984
1984
Although trisomy 16 is well recognised in spontaneous abortuses, it is infrequent in livebirths and there is little information… (More)
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