Abnormal external genitalia
National Institutes of Health
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2-month old boy with prenatally diagnosed Klinefelter syndrome (amniocentesis with kariotyping performed because of hypotrophia…
The aim — to analyze the cases of XX sex inversion as the cause of disorders of sex development (DSD) in children. Materials and…
Isolated female epispadias without bladder exstrophy is an extremely rare entity. It usually presents with primary urinary…
Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and…
Objective of the study was to review the anamnesis, pheno and genotype in patients with rare chromosome disorders such as 9p…
An intersex is an individual with a very rare developmental disorder in which both male and female characteristics develop. In…
An 18-month-old boy was admitted to our hospital due to the abnormal appearance of the external genitalia. The boy was born at…
Editor—In XY subjects, the testes are influenced by the activity of the sex determining region Y ( SRY ) gene and its abnormal…
THE CONGENITAL nephrotic syndrome is probably a heterologous group from which microcystic disease and membranous…