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All Journal SAINS MEDIKA : JURNAL KEDOKTERAN DAN KESEHATAN MEDIA MEDIKA INDONESIANA Indonesian Journal of Urology Journal of Biomedicine and Translational Research JNKI (Jurnal Ners dan Kebidanan Indonesia) (Indonesian Journal of Nursing and Midwifery) AcTion: Aceh Nutrition Journal Media Keperawatan Indonesia Jurnal Ilmu Keperawatan Maternitas The Shine Cahaya Dunia Ners Journal of Telenursing (JOTING) Jurnal Aisyah : Jurnal Ilmu Kesehatan Jurnal Pasopati : Pengabdian Masyarakat dan Inovasi Pengembangan Teknologi The Shine Cahaya Dunia Ners

Achmad Zulfa Juniarto

Departemen Kedokteran, Fakultas Kedokteran, Universitas Diponegoro

Author-ID : 293828

Aerospace Engineering Automotive Engineering Biochemistry, Genetics & Molecular Biology Chemical Engineering, Chemistry & Bioengineering Civil Engineering, Building, Construction & Architecture Earth & Planetary Sciences Electrical & Electronics Engineering Environmental Science Health Professions Immunology & microbiology Industrial & Manufacturing Engineering Medicine & Pharmacology Nursing Public Health Veterinary Other

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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

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.

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country Nurin Aisyiyah Listyasari; Ardy Santosa; Achmad Zulfa Juniarto; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 3, No 1 (2017): July 2017
Publisher : Faculty of Medicine, Diponegoro University

Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis. This study reported a multidisciplinary management DSD in Indonesia based on minimal diagnostic facilities and expertise in developing country.Objectives : The purpose of the study is to review the management of DSD patients in Indonesia relates to providing appropriate gender assignment and to improving patients quality of life.Methodology : We analyzed the records of DSD patient admitted to the division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University, Semarang, Indonesia from May 2004 - December 2015. Data were collected and analyzed for physical examination, family pedigree karyotyping, hormonal assays and psychosocial. Other examination such as ultrasonography, Xray and Cytoscopy were also recorded for selected cases. Bimonthly, Sexual Adjustment Team (SAT) meeting was recorded.Results : From the total 617 DSD cases we found 426 cases (69,04 %) with 46, XY DSD, 117 cases (18,96%) with 46,XX DSD and 74 cases (12%) with sex chromosome DSD. Most of the patients in the group of 46, XY DSD are Unknown Male Undervirilization (UMU) with 256 cases (60.09%). As the majority cases of 46, XX DSD was Congenital Adrenal Hyperplasia with 81 cases (69.23%). The remaining cases were Androgen Action Disorder (AAD) with 140 cases (32.86%), 46, XY DSD Gonadal Dysgenesis with 30 cases (7.04%), Androgen Excess Disorders with 3 cases (2.56%), Defect of Mullerian Development with 19 cases (16,24%), 3 cases (2.56%) of Androgen Excess and 3 cases (2.56%) of 46, XX Gonadal Dysgenesis.Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of DSD team is the only team in Indonesia that can be used as a model for other center in Indonesia as well as other developing countries with minimal diagnostic facilities.

Profile of Hypospadias Cases in Central Java, Indonesia Ziske Maritska; Ardy Santosa; Mahayu Dewi Ariani; Achmad Zulfa Juniarto; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 1, No 1 (2015): April 2015
Publisher : Faculty of Medicine, Diponegoro University

Background: Hypospadia is believed to be a multifactorial disease. The risk factors that may induce the formation of hypospadias are environmental factors, endocrine disruptors, and genetic factors. The aim of this study was to describe the profile of hypospadias patients who visited the Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.Methods: This study is an observational study, using patients’ medical record in CEBIOR from 2010 to 2012. The hypospadias cases were classified into syndromic, isolated and severe hypospadias based on their phenotype. The history of pregnancy, birth characteristics, and family history of the patients were described.Results: There were 120 cases of hypospadias, consisted of 48.33% severe hypospadias, 41.67% mild isolated hypospadias and 10% syndromic hypospadias. There were 38.33% hypospadias cases whose mothers were being exposed to repellant usage and 39.17% cases whose fathers were smoking. Forty (33.33%) probands’ mothers were aged above 35 years old when they gave birth to their affected son.Conclusion: Majority of hypospadias cases were severe and mild isolated. Environtmental factors including maternal age more than 35 years old, use of repellant, and smoking fathers were found in this study.

Co-Authors - Anggorowati Al-Baarri, Ahmad Ni’matullah Amala, Nur Anang M Legowo Andrew Johan Ardy Santosa Ardy Santosa Ardy Santosa Chandra Bagus Ropyanto Denis Mulanita Pratiwi Denis Mulanita Pratiwi DEWI WIJAYANTI Dhega Anindita Wibowo, Dhega Anindita Dimas Sindhu Wibisono Djuara P Lubis Etika Ratna Noer Ilham Saptia Nugraha Indah Saraswati Kusmiyati Tjahjono Lara Ayu Lestari Legowo, Anang M Lintang Dian Saraswati M. Sulchan Mahayu Dewi Ariani Muh Firman Yudiatma Mulyono, Yehezkiel Andrew Nana Rochana Nurin Aisyiyah Listyasari Nurin Aisyiyah Listyasari Pratiwi, Riska Yulia Prihasna, Septika Nuri R Rokhmat RANIDA ARSI Sri Rejeki Sri Rejeki Sri Rejeki Sultana MH Faradz Surtania Surtania Untung Sujianto Vikawati, Nura Eky Vivi Endar Herawati Ziske Maritska

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