The significance of diagnostic laparotomy in girls with disorders of sexual development.
Chromosomal analyses were performed in 5 patients from 13 days to 16 years of age to clarify intersexual genitalia, disorders of secondary sexual development and growth retardation. Laparotomies were felt to be indicated because of discrepancies in the results of chromosoma analyses, clinical picture and endocrinologic findings. Among others, pure gonadal dysgenesis was found in a patient with karyotype 46 XX, functional ovaries in a chromosomal Turner's syndrome and a Müllerian anlage with two dysgenetic testes in a 45 X/46 XY mosaic. Since gonads with one cell line containing Y-chromosomes carry a high danger of malignant change, they should be removed as early as possible. It is known that disorders of sexual development can be caused by many and various anomalies of the sex chromosomes. Cooperation among endocrinologists, human geneticists and pediatric surgeons is essential for clarification of the diagnosis.
D000293:Adolescent; D002648:Child; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010053:Ovary / Q000601:surgery*; D012729:Sex Chromosome Aberrations / Q000175:diagnosis