Abstract Ref Number = APCP850
Poster Presentation
46, XY DSD
Riny Fasli,Rusdi Andid Department of Child Health Syiah Kuala University Dr Zainoel Abidin Hospital Banda Aceh Indonesia
Background : A 46, XY disorder of sex development (DSD) is a condition in which an individual has one X chromosome and one Y chromosome in each cell, the pattern normally found in males, in which the genitalia is not clear male or female. DSD incidence is estimated around 1: 4500 to 1: 5500 live births. Case Presentation Summary : A girl, 6 years old with body weight 18 kg, came with the complaint of unusual form of genitals and the appearance of a male-like body. Subjectively, the child is female. In examination of external genetalia, found an enlarged clitoris resembles the tip of the penis with the urethral orifice at the end, penoscrotal hypospadias, enlargement of major labia and palpated testis in the two major labia. In laboratory findings, hemoglobin 12.9 g / dl, hematocrit 38%, leukosit 13.700 / mm3, platelet 294.000 / mm3. ?-HCG of blood <2.00 mIU / ml, LH 0.08 mIU / ml, FSH 0.93 mIU / ml. Testosterone hormone < 2,5 ng/dl. Gynecology ultrasound concluded that the uterus is not clear in visualization and the right and left testes are normal in the labia region. Chromosome analysis result shows the number of chromosomes in all cells is 46, XY. The patient is planned to undergo HCG stimulation test with pregnyl Injection (HCG) 1500 IU for 3 days. Learning Points/Discussion : People with 46,XY DSD exhibit a variety of phenotypes at birth ranging from typical female external genitalia, to ambiguous, and even underdeveloped male external genitalia including proximal or perineoscrotal hypospadias and/or bilateral cryptorchidism. Feminizing or masculinizing genitoplasty to construct genitals that appear and function in a more female or male-typical manner also occurs as part of the medical management of 46,XY DSD.
Keywords: 46 XY Disorders of sexual development gonadal dysgenesis
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