Clinical Profile and Management of 1-Year-Old Child with 46 XY DSD
Journal: International Journal of Science and Research (IJSR) (Vol.8, No. 12)Publication Date: 2019-12-05
Authors : Siska Sinardja; I Wayan Bikin Suryawan; Made Arimbawa;
Page : 565-567
Keywords : Genes; Gonad development; Sex development;
Abstract
Background: Gender determination of a child is an important aspect which associated with individuals psychosocial function. The newborn infant with ambiguous external genitalia presents a problem of sex assignment and is frequently described as a clinical emergent situation that is distressing to the parents. Gonad development disorder or defect in androgen synthesis or function may cause ambiguous genitalia in 46 XY disorders of sexual development (DSD). Aim: To cover clinical profile, evaluation, and management of a patient with 46 XY DSD, with an aim to provide better understanding for clinician with similar case findings. Case: A 1-year-old child with male phenotype was presented with imperfect scrotum and impalpable bilateral cryptorchidism. Patients chromosomal analysis showed 46 XY DSD. Testicular ultrasound (USG) found a suspicion of left testicle in left pelvic region, and right testicle in right inguinal region. Anti-Mullerian hormone test result showed more than 46.000 ng/mL. Testosterone hormone examination after serial human chorionic gonadotropin (hCG) injection showed more than 186-fold increase in level of testosterone hormone compared to baseline. Surgical treatment with diagnostic laparoscopic approach and orchidopexy may be performed to prevent infertility in this patient. Conclusion: Individuals with 46 XY DSD may have testicular development disorder and impaired androgen synthesis or action which may cause ambiguous genitalia. Comprehensive management through multidisciplinary approach is needed in these cases.
Other Latest Articles
- Challenges and Opportunities of Plants and Animals Medicine as Primary Health Care among the Oromo, Ethiopia: The Case of Gidda Kumbi Village of Nedjo District in Western Ethiopia
- The Experiment on Atomic Ring Theory on the Basis on Particle, Dark Matter and Particle-Wave Effect
- Answering to a Question - Is Deja Vu a Time Lapse?
- A Study on Quality and Quantity of Sleep Disturbances Associated with their Quality of Life in Psychiatric Patients
- Information Needs and Access to Information: A Study of Members of Zila Panchayat in Nainital District of Uttarakhand
Last modified: 2021-06-28 18:33:10