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[HTML] The right sided syndrome, congenital absence of kidney and testis

[HTML] from sjkdt.orgKH Kumar, BS Rao, S Shiradhonkar, R Jha… - Saudi Journal of Kidney …, 2011 - sjkdt.org
Unilateral renal agenesis (URA) is a developmental defect associated with ano衫alies of the
genitourinary system. The associations vary from absence of testis alone to high anorectal anomalies
in other patients. We present two interesting patients with URA, encountered recently. Our ...
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46, XX SRY-Positive Male Syndrome Presenting with Primary Hypogonadism in the Setting of Scleroderma

G Velasco, V Savarese, N Sandorfi, SA Jimenez… - Endocrine Practice, 2011 - AACE
... Typically, Klinefelter syndrome is characterized by abnormal sexual development
at puberty, with small testes, gynecoid body habitus, absent secondary sexual
characteristics, gyneco- mastia, impotence, and sterility. However ...
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Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?

C Anderson, JH Davies, L Lamont… - American Journal of …, 2011 - Wiley Online Library
... The term testicular regression refers to the finding of bilateral absent testes in a 46,XY individual
with evidence of ambiguous genitalia. This implies the loss of testicular function during sexual
differentiation [Marcantonio et al., 1994]. The term vanishing testis syndrome refers to ...
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[HTML] Clinical, Biological and Genetic Analysis of Anorchia in 26 Boys

[HTML] from plos.orgR Brauner, M Neve, S Allali, C Trivin, H Lottmann… - PloS one, 2011 - dx.plos.org
... Anorchia, or embryonic testicular regression (vanishing testis syndrome), is defined as the
absence of testes in a 46,XY individual with a male phenotype [1]–[3]. It affects one in 20,000
male births [4] and occurs in 1/177 cases of cryptorchidism [5]. Although some patients with ...
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Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome

A Mégarbané, E Chouery… - American Journal of …, 2011 - Wiley Online Library
... Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct
MCA/MR syndrome. Am J Med Genet Part A 9999:1–5. © 2011 Wiley-Liss, Inc. 1 ... A: Note the
resemblance to his affected brother. B: Note the small penis and absent testes bilaterally. ...
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