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Nurin Aisyiyah Listyasari
Faculty of Medicine, Diponegoro University
Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology

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SRY-negative in 46, XX Male Testicular DSD: a case report Nurin Aisyiyah Listyasari; Ardy Santosa; Achmad Zulfa Juniarto
Journal of Biomedicine and Translational Research Vol 6, No 3 (2020): December2020
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v6i3.9088

Abstract

Background: The sex determination process requires distinct signaling pathways to generate either testis or ovaries from the same precursor structures, the primordial gonad. Deviations of this signaling mechanism may result in disorders/differences of sex development (DSD). The 46, XX testicular DSD is a rare genetic condition identified by a discrepancy between genetic and phenotypic sex caused sex reversal syndrome. Case Presentation: We describe the case of a 5 years-old 46, XX boy with ambiguous genitalia. On physical examination he had severe hypospadias, bifid scrotum, micropenis and palpable bilateral testes. Cytogenetic analysis of patient reveals a 46, XX karyotype. Hormonal assay showed low level of FSH, LH and Testosterone and there was no evidence of Mullerian structures based on pelvic imaging. The histopathology of gonadal tissue showed a Leydig cell hyperplasia which gives the impression of Sertoli cell nodule. Polymerase chain reaction (PCR) analysis failed to identify the presence of SRY gene, therefore a diagnosis of 46, XX Testicular DSD with SRY-negative was established. Conclusion: This report presents a rare case of SRY-negative 46, XX Testicular DSD in a boy with ambiguous genitalia. A comprehensive management including clinical, cytogenetic and molecular analyses have indicated that undiscovered genetic or environmental factors needs to be elucidated. It is important to carry out further molecular testing to establish precise diagnosis of DSD and to provide appropriate genetic counseling for patients and their family.
A long-term follow-up of Sex Chromosomal Mosaicism Disorders of Sex Development Nurin Aisyiyah Listyasari; Iit Fitrianingrum; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 5, No 1 (2019): July 2019
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (318.3 KB) | DOI: 10.14710/jbtr.v5i1.4703

Abstract

Background:Chromosomal mosaicism is characterized by the presence of two or more distinct cell lines in an individual. Mosaicism in sex chromosome is a major component of Disorders of Sex Development (DSD) results in a large clinical spectrum of genital ambiguity.                        Case Presentation:We report long term follow-up of a 15-year-old male who was evaluated for ambiguous genitalia with a karyotype of 46,XY (85%) / 46,XX (15%). He presented with abnormal urethral opening (hypospadias) and left sided undescended testis since birth. Work-up was done for cytogenetic analysis, hormonal assays, imaging, exploratory laparotomy, and hypospadias repair. For more than 15 years he was reared as a boy, with no further complaints, until he reached puberty. He then developed gynecomastia and monthly painful hematuria. MRI evaluation revealed a left adnexal cystic mass and anteflexed uterus with loculated fluid collection posterior to urinary bladder suggesting hematometra. We discuss the genetics, diagnostics, as well as genetic counseling of this patient.Conclusion: This case is reported in view of the interesting clinical presentation of this rare mosaicism. A strong emphasis on a multidisciplinary approach and close follow-up is important to ensure both physical and psychological well-being of DSD patients.
Co-Authors Achmad Zulfa Juniarto Ardy Santosa Sultana MH Faradz