An XXsex chromosome complement in an infant having male-type external genitals, renal agenesis, and other anomalies
Schlegel, R.J.; Aspillaga, M.J.; Neu, R.L.; Carneiro-Leão, J.; Gardner, L.I.
Journal of Pediatrics 69(5): 812-813
1966
ISSN/ISBN: 0022-3476 PMID: 5928014 Document Number: 4976
A newborn infant is reported with renal agenesis, male-type external genitals, empty scrotum, and imperforate anus. At laparotomy the infant was found to have no kidneys. The adrenal glands were apparently normal in size. No uterus could be seen, but Fallopian tubes were present as were gonads resembling ovaries. Karyotype analysis of peripheral leukocytes revealed 44 autosomes and an XX sex chromosome complement. The infant closely resembles 3 infants with renal agenesis reported by Carpentier and Potter? The possibility is suggested that these fetuses may be masculinized in utero as a result of reduced androgen excretion due to renal agenesis.
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