Urogenital anomalies

Sterol-A -isomerase deficiency, known as Conradi-HUnermann syndrome (CDPX2), is an X-linked dominant disorder. Clinical manifestations of this disorder include skeletal abnormalities, chondrodysplasia punctata, craniofacial anomalies, cataracts, and skin abnormalities. The 7-dehydrocholesterol reductase deficiency, known as Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder occurring in about 1 in 20,000 births. Clinical manifestations of affected individuals include craniofacial abnormalities, microcephaly, congenital heart disease, malformation of the limbs, psychomotor retardation, cerebral maldevelopment, and urogenital anomalies. Measurement of 7-dehydrocholesterol in amniotic fluid during second trimester or in neonatal blood specimen has been useful in the identification of the disorder. The sterol-A " -reductase deficiency causes a developmental phenotype similar to SLO syndrome and is associated with accumulation of desmosterol. The inability of de novo fetal synthesis of cholesterol combined with its inadequate transport from the mother to the fetus appears... 

The entire spectrum of imaging investigations and functional studies is necessary to detect urogenital anomalies in anorectal malformations. 

There is also the awareness that sensitivity to environmental insult, and subsequent expression of that insult, does not cease with birth. The mammal at term is not a miniature adult a partial list of systems still undergoing differentiation include the nervous, endocrine, urogenital, digestive and immune systems. Expression of an insult incurred utero may not develop until after birth, in the human up to ten years of age for most detected anomalies, but with a latency of 15-30 years for carcinogenic events. 

Kaufmann-McKusick syndrome Hydrometrocolpos, transverse vaginal membrane, vaginal septum, postaxial polydactyly, cardiac anomalies, hypospadias Hydroureter, ureteral duplication, ectopic urethra, urogenital sinus, posterior urethral valves AR (236700), mutations in Bardet-Biedl type 6 BBS6 gene... 

Lower Urinary Tract Anomalies of Urogenital Sinus 152... 

Pediatric radiologists will commonly come across mUllerian duct anomalies at two different stages of a girl s life. In neonates diagnostic requests encompass evaluation of a palpable abdominal mass and delineation of associated genital malformation in urogenital sinus anomalies. In adolescent girls delay in puberty or primary amenorrhea as well as pelvic... 

Structural as well as functional anomalies are reported commonly in babies with anorectal malformations. Therefore, a careful evaluation of the urogenital tract is essential in these cases. 

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