الفهرس 
Introduction
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Abstract
The aim of the present work is to correlate the abnormal clinical presentations of the external genitalia at different ages and /or the secondary sexual characters in adolescent females with the sex chromosomes. The present study included 40 infants, children and adults, Their ages ranged from 2 days to 31 years, presented to the Genetic Unit of Mansoura University Children Hospital. These were enrolled into two groups: (1) 20 cases of ambiguous genitalia and (2) 20 females of primary amenorrhea. The patients were exposed to the following investigations: 1. Determination of steroidal hormones to each patient by using ELISA method. 2. Determination of type of sex chromosome. by using chromosomal culture 3. Determination of type of sex chromosome by using Fluorescent In Situ Hybridization (FISH) The results revealed that 1 Determining the type of sex chromosomes in 20 cases of ambiguous genitalia. 2 In determination of the causes of primary amenorrhea in 20 cases (adolescent females) It was found that the three most common causes of primary amenorrhea were: 1. Ovarian and/or uterine failure or E2 deficiency 2. Turner syndrome of karyotype 45,XO 3. Testicular feminization syndrome with male karyotype 46,XY. Conclusion. <U+2022> The chromosomal study is important for determination of type of sex in individuals with ambiguous genitalia and the reasons of primary amenorrhea in adolescent females <U+2022> Fluorescence in situ hybridization (FISH) analysis is highly recommended and allows accurate diagnosis in cases of ambiguous genitalia.