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ea0022p197 | Clinical case reports and clinical practice | ECE2010

Genetic pattern of sex development disorders: cases report

Andreescu Nicoleta , Belengeanu Valerica , Stoian Monica , Stoicanescu Dorina , Farcas Simona , Belengeanu Alina , Muresan Anca , Amzar Daniela

Objective: To study the spectrum of chromosomal anomalies in three cases as related to the phenotypic variability of patients with anomalies of disorder of sexual development.Female 18 years old with secondary amenorrhea, stigmata of Turner’s syndrome, Tanner stage II. Ultrasound showed streak gonads. Hormonal analysis revealed elevated levels of FSH, LH and a low plasma estradiol level. The chromosomal investigation showed gonosomal mosaicism 45,X(...