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All Journal MEDIA MEDIKA INDONESIANA Journal of Nutrition and Health Rotasi JURNAL GIZI INDONESIA Jurnal Psikologi JURNAL TEKNIK MESIN Jurnal Kedokteran Diponegoro Medical Journal of Indonesia Journal of Biomedicine and Translational Research Global Medical and Health Communication The Indonesian Biomedical Journal Sari Pediatri Paediatrica Indonesiana Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML) Indonesian Journal of Global Health research Diponegoro International Medical Journal (DIMJ) Mechanical Engineering for Society and Industry

Tri Indah Winarni

Center For Biomedical Research (CEBIOR), Faculty Of Medicine, Universitas Diponegoro, Jl. Prof. Sudharto, SH, Tembalang, Semarang

Author-ID : 418216

Aerospace Engineering Automotive Engineering Biochemistry, Genetics & Molecular Biology Chemical Engineering, Chemistry & Bioengineering Control & Systems Engineering Dentistry Education Electrical & Electronics Engineering Energy Engineering Health Professions Immunology & microbiology Industrial & Manufacturing Engineering Languange, Linguistic, Communication & Media Materials Science & Nanotechnology Mechanical Engineering Medicine & Pharmacology Neuroscience Nursing Public Health Social Sciences Transportation

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ANALISIS GEN GSTM1 NULL, GSTT1 NULL, RASIO GSH/GSSG DAN KADAR LOGAM BERAT TERHADAP DERAJAT AUTISM SPEKTRUM DISORDER Hermawati, Donna; A, Mahayu Dewi; Utari, Agustini; Winarni, Tri Indah; Faradz, Sultana MH
JNH (Journal of Nutrition and Health) Vol 7, No 2 (2019): JNH (JOURNAL OF NUTRITION AND HEALTH)
Publisher : Universitas Diponegoro

Background : Autism Spectrum Disorder (ASD) is an behavioral disorder included in multifactorial disease. Several theory said that genetics factor, parental age, immunologic dysfunction, chemical induced, heavy metal intoxication and oxidative stress are related to ASD. A study about genetics and environmental factor is very important. High polymorphism of GSTM1 and GSTT1 genes were reported in autism population. The measurement of heavy metal concentration in hair specimen has been done to know excretion ability of the body. GSTM1 null and GSTT1 null polymorphism in subjects with autism, reflect individual vulnerability for environmental induced, such as heavy metal. Objectives : The objectives of this study was to know the frequency of GSTM1 null and GSTT 1null od ASD patients compare to the wildtype and the heavy metal concentration (Pb and Hg) of ASD patients Methods: Blood samples and hair specimen were collected from thirty eight autism children of Autism School in Semarang, Surakarta and Probolinggo. The Multiplex Polymerase Chain Reaction was used to analyze GSTM1 and GSTT1 gene. The GSH and GSSG concentration were done using ELISA. Heavy metal (Pb) concentration of hair specimen were done using Atomic Absorption Spectrophotometer. Results : The higher frequency of GSTM1 null & GSTT1 null were obtained in ASD children compared to the wildtype. The average of Pb concentration reached beyond the maximum standart (3,34 ppm).

PERBEDAAN PENGARUH SEPATU BERHAK WEDGE DAN NON-WEDGE TERHADAP GAIT DAN KESEIMBANGAN Permatasari, Galuh Arum; Winarni, Tri Indah
DIPONEGORO MEDICAL JOURNAL (JURNAL KEDOKTERAN DIPONEGORO) Vol 6, No 2 (2017): JURNAL KEDOKTERAN DIPONEGORO
Publisher : DIPONEGORO MEDICAL JOURNAL (JURNAL KEDOKTERAN DIPONEGORO)

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Latar Belakang : Penggunaan sepatu hak tinggi memberikan pengaruh bagi tubuh, perubahan postur, kinematika, perubahan gaya berjalan yang dapat berimplikasi pada keseimbangan tubuh. Dewasa ini muncul berbagai jenis sepatu dengan luas alas hak sepatu yang berbeda, berupa Â wedge dan non-wedge. Perbedaan luas alas hak sepatu memungkinkan pengaruh yang berbeda bagi tubuh.Tujuan : Membuktikan perbedaan pengaruh sepatu berhak wedge dan non-wedge terhadap gait dan keseimbanganMetode : Penelitian eksperimental dengan rancangan two group pre and post design. Subyek adalah wanita berusia 18-24 tahun. Enam puluh dua wanita yang bersedia mengikuti penelitian dan memenuhi kriteria inklusi dan eksklusi dibagi secara acak menjadi dua kelompok, kelompok perlakuan wedge dan non-wedge masing-masing berjumlah 31 orang. Setiap kelompok dilakukan Walk test untuk uji gait, One leg stand dan Tandem stand untuk uji keseimbangan sebelum dan setelah perlakuan menggunakan sepatu hak tinggi 7 cm.Â Hasil : Hasil penelitian ini menunjukkan terjadi perubahan gait dan keseimbangan secara signifikanÂ sebelum dan setelah perlakuan. Namun, jika dibandingkan selisih perubahan antara kelompok wedge dan non-wedge menunjukkan tidak terdapat perbedaan bermakna pada parameter gait. Parameter gait step length menunjukkan perbedaan signifikan (p=0,006), sedangkan stride length, cadence, dan gait speed tidak menunjukkan perbedaan signifikan (p=0,288; p=0,888; p=0,679). Pada uji keseimbangan, tidak menunjukkan perbedaan signifikan (p>0,050) pada selisih perubahan keseimbangan antar kelompok.Kesimpulan : tidak terdapat perbedaan pengaruh antara sepatu berhak wedge dan non-wedge terhadap gait dan keseimbangan

Are GSTM1 Null and GSTT1 Null Risk Factor of Autism Spectrum Disorder? A Preliminary Study Donna Hermawati; Sue-Mian Then; Tri Indah Winarni; Rahman Jamal; Sultana MH Faradz
MEDIA MEDIKA INDONESIANA 2012:MMI VOLUME 46 ISSUE 2 YEAR 2012
Publisher : MEDIA MEDIKA INDONESIANA

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Background: Low plasma total glutathione (tGSH) levels, elevated levels of oxidized glutathione (GSSG) and low ratios of tGSH to GSSG in autism were reported. Glutathione S-transferases (GST) are antioxidant enzymes that play important role in cellular detoxification and the excretion of environmental pollutants including heavy metals. Glutathione S-transferase mu (GSTM1) and Glutathione S-transferase theta (GSTT1) are known to be highly polymorphic. Homozygous deletions of these genes result in lack ofenzyme activity and impaired the ability to excrete metals including mercury. Combined effects of mercury (Hg) accumulation coupled with decreased levels of antioxidants (low glutathione and antioxidant enzymes) contribute to the phenotypic presentation of autism spectrum disorder (ASD). Association of GSTM1 null genotype with autism has been reported. Therefore the preliminary study was performed to investigate the role of GSTM1 null and GSTT1 null as risk factor of ASD associated with phenotype expression.Method: Fifty one ASD patients were recruited from special need & autism school and 45 controls from Semarang & Solo. Blood veins samples were collected and genomic DNA was extracted by salting-out method in CEBIOR Semarang. Genotyping for GSTM1 and GSTT1 gene was done in UMBI Malaysia. Multiplex PCR was performed and PCR products were separated on 1.2 % agarose gel, stained with ethidium bromide and visualized on UV transiluminator. GSTM1 & GSTT1 gene product is about 625 bp and 459 bp. Absence of GSTM1 and GSTT1 gene band was interpreted as GSTM1 null & GSTT1 null.Results: The frequency of GSTM1 null and GSTT1 null in ASD higher compared with control group but the difference is not statistically significant (p=0.357, OR=0.504; 95% CI 0.117-2.168 and p=0.364, OR=0.674; 95% CI 0.287-1.580). There is also no statistically different in the distribution of GSTM1 null and GSTT1 null between mild to moderately autistic and severely autistic (p=0.983, OR=0.980; 95% CI 0.158-6.095 and p=0.439, OR=1.633; 95% CI 0.471-5.656).Conclusion: GSTM1 null and GSTT1 null are not risk factor of ASD. Further investigations are needed with a bigger sample size, analyzing multiple GST genes and GST activity determination to find out the gene susceptibility of ASD and factors that contribute to the phenotype expression of ASD.Keywords: GSTM1 null, GSTT1 null, risk factor, autism spectrum disorder ABSTRAKApakah GSTM1 Null dan GSTT1 Null merupakan faktor risiko autism spectrum disorder? Studi pendahuluanLatar belakang: Pada autism ditemukan bahwa glutathion total plasma (tGSH) rendah, oxidized glutathione (GSSG) meningkat dan rasio tGSH terhadap GSSG rendah. Glutathione s-transferase (GST) merupakan enzim antioksidan yang berperan penting dalam proses detoksifikasi seluler dan ekskresi polutan lingkungan termasuk diantaranya logam berat. Polimorfisme gen GST mu (GSTM1) dan GST theta (GSTT1) cukup tinggi. Delesi homozigot gen GSTM1 dan GSTT1 yang menyebabkan berkurang sampai tidak adanya aktivitas enzim GST serta menurunnya level antioksidan berkontribusi terhadap risiko ASD. Oleh karena itu dilakukan penelitian pendahuluan untuk mengetahui hubungan antara gen GSTM1 null dan GSTT1 null sebagai faktor risiko ASD dengan ekspresi fenotip.Metode: Lima puluh satu pasien ASD dari SLB dan sekolah autis serta 45 kontrol dari Semarang dan Solo diambil darah vena, kemudian diekstraksi dengan metode salting-out diCEBIOR Semarang. Pemeriksaan genotip gen GSTM1 & GSTT1 dilakukan di UMBI Malaysia. Metode yang digunakan adalah PCR multipleks, setelah itu produk PCR dipisahkanpada 1,2% gel agarosa kemudian dicat dengan ethidium bromida dan hasilnya dilihat menggunakan transiluminator UV. Besar produk untuk GSTM1 & GSTT1 adalah 625 bp &459 bp. Tidak adanya band untuk gen GSTM1 & GSTT1 diinterpretasikan sebagai GSTM1 null & GSTT1 null.Hasil: Frekuensi gen GSTM1 null dan GSTT1 null pada ASD lebih tinggi dibandingkan kontrol tetapi tidak ditemukan perbedaan yang signifikan (p=0,357, OR=0,504; 95% CI0,117-2,168 and p=0,364, OR=0,674; 95% CI 0,287-1,580). Distribusi gen GSTM1 null dan GSTT1 null pada autis ringan sedang dan autis berat juga tidak ditemukan perbedaan yang signifikan secara statistik (p=0,983, OR=0,980; 95% CI 0,158-6,095 and p=0,439, OR=1,633; 95% CI 0,471-5,656).Simpulan: GSTM1 null dan GSTT1 null bukan merupakan faktor risiko ASD. Penelitian lebih lanjut sangat diperlukan dengan jumlah sampel yang lebih besar, analisis gen GSTmultipel dan pemeriksaan aktivitas GST untuk mendapatkan gen faktor risiko ASD dan faktor-faktor yang mempengaruhi ekspresi fenotip ASD.

The Role of SHOX Gene in Short Stature of Turner Syndrome and Its Variant Tri Indah Winarni; Farmaditya EP Mundhofir; Sultana MH Faradz
MEDIA MEDIKA INDONESIANA 2010:MMI VOLUME 44 ISSUE 2 YEAR 2010
Publisher : MEDIA MEDIKA INDONESIANA

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Background: SHOX gene is located on the edge of each short/p arm sex chromosome called the pseudoautosomal region-1 (PAR1) plays as a fundamental role on controlling chondrocyte differentiation and apoptosis in the growth plate. Longitudinal growth is determined by environmental, hormonal and genetic factors. Short stature is defined as a standing height below the third percentile according to Tanner et al. Short stature affects approximately 2% of children. Turner syndrome is the most common genetic disorder in female characterized by the absence of all or part of a normal second X chromosome, affecting 1:2500 live-born female babies. Short stature and ovarian failure is the main clinical feature. The objective of this study is to elucidate the implication of SHOX gene in short stature of Turner Syndrome and its variant.Method: Purposive sampling was performed to recruit female with short stature after informed consent agreement. Female with growth treatment history and chronic diseases was excluded from this study. Cytogenetics testing was done for all samples by G-banding method, in routine karyotyping. Result: We report 9 females with short stature which cytogenetically and clinically diagnosed as Turner Syndrome. Four cases is classic Turner syndrome with standing height is below third percentile, three cases are 45,X/46,X,i(Xq) with standing height is below third percentile, one case is 46,XX/45,X (80%) with standing height is below third percentile, and the rest is 46,XX/45,X (20%) with standing height is between 3rd–97th percentile or normal.Conclusion: SHOX gene haploinsufficiency is strongly indicated the cause of short stature in Turner Syndrome.ABSTRAKPeran gen SHOX pada perawakan pendek Sindrom Turner dan variannyaLatar belakang: Gen SHOX terdapat di ujung lengan pendek kromosom seks yang disebut pseudoautosomal regio-1 (PAR1) yang berperan penting pada pengaturan diferensiasi kondrosit and apoptosis di lempeng epifisis. Pertumbuhan memanjang ditentukan oleh faktor lingkungan, hormon, dan faktor genetik. Menurut Tanner dkk, perawakan pendek didefinisikan sebagai tinggi badan kurang dari tiga persentil dan diperkirakan terjadi pada 2% populasi anak-anak. Sindrom Turner merupakan kelainan genetik pada perempuan yang paling banyak ditemukan akibat hilangnya sebagian atau seluruh kromosom X normal yang kedua dengan gambaran klinik utama berupa short stature dan insufisiensi ovarium, dengan insidensi 1:2500 bayi lahir hidup. Tujuan penelitian ini untuk memahami peran gen SHOX pada perawakan pendek Sindrom Turner dan variannya.Metode: Subjek penelitian adalah wanita berperawakan pendek yang setuju mengikuti penelitian dengan menandatangani informed consent. Dilakukan eksklusi untuk wanita berperawakan pendek dengan riwayat pengobatan pemacu pertumbuhan dan penyakit kronik. Pemeriksaan sitogenetik dengan metode pengecatan Giemsa dilakukan pada semua preparat kromosom dilanjutkan dengan analisis kromosom rutin.Hasil: Dilaporkan sembilan (9) wanita berperawakan pendek yang secara sitogenetik dan klinis didiagnosis sebagai Sindrom Turner. Empat kasus didiagnosis sebagai Sindrom Turner klasik dengan tinggi badan di bawah tiga persentil, tiga kasus dengan 45,X/46,X,i(Xq) dengan tinggi badan di bawah tiga persentil, satu kasus dengan 46,XX/45,X (80%) dengan tinggi badan di bawah tiga persentil, dan sisanya adalah 46,XX/45,X (20%) dengan tinggi badan di bawah antara 3-97 persentil atau normal.Simpulan: Haploinsufficiency gen SHOX diduga kuat menyebabkan perawakan pendek pada Sindrom Turner.

beta-Glucan Increases IFN-gamma and IL-12 Production of Peripheral Blood Mononuclear Cells with/without Induction of Mycobacterium tuberculosis Wild-type/Mutant DNA Meira Erawati; Nyoman Suci Widyastiti; Tri Indah Winarni; Edi Dharmana
The Indonesian Biomedical Journal Vol 11, No 2 (2019)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v11i2.688

BACKGROUND: In tuberculosis infections, the immune system is weakened and cannot produce enough cytokines to against the infection. b-glucan is a potent immunomodulator that induces cytokine production in various bacterial infections. This study aimed to determine the effects of b-glucan on the production of interferon (IFN)-γ and interleukin (IL)-12 in peripheral blood mononuclear cells (PBMCs) induced by Mycobacterium tuberculosis DNA.METHODS: PBMCs were isolated from 11 healthy subjects. PBMCs were treated with/without 5 μg/mL b-glucan and M. tuberculosis rpoB wild-type or mutant DNA. The production of IFN-γ and IL-12 in the supernatant was performed with enzyme-linked immune-sorbent assay (ELISA).RESULTS: b-glucan increased significantly (p<0.05) IFN-γ of M. tuberculosis mutant DNA-induced PBMCs, M. tuberculosis wild-type DNA-induced PBMCs, and non-induced PBMCs. b-glucan also increased significantly (p<0.05) IL-12 of M. tuberculosis mutant DNA-induced PBMCs, M. tuberculosis wild-type DNA-induced PBMCs, and non-induced PBMCs. There were not any significant difference between male and female groups for IL-12 and IFN-γ in all treatment groups (p>0.05, ANOVA test).CONCLUSION: This in vitro study indicates that b-glucan increases the performance of PBMCs to produce IFN-γ and IL-12, with/without induction of M. tuberculosis wild-type/ mutant DNA.KEYWORDS: b-glucan, IFN-γ, IL-12, M. tuberculosis, rpoB

Dilemma of presymptomatic testing in children with history of late onset neurodegenerative spinocerebellar ataxia in Indonesia Nydia Rena Benita Sihombing; Tri Indah Winarni; Maria Belladonna; Annastasia Ediati; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 8, No 1 (2022): April 2022
Publisher : Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v1i1.13032

Background: Spinocerebellar ataxia (SCA) is a late onset neurodegenerative disorder in which coordination and balance are affected. Although many international guidelines have been established regarding presymptomatic testing, it is still a grey area in Indonesia. We report two large families with advanced stages of SCA who underwent presymptomatic genetic testing in children along counseling process.Case presentation: Thorough examination was performed, including pedigree construction, physical and neurological examination, gene mutation analyses for patients, and presymptomatic testing for family members, including children. SCA3/MJD1 gene mutation analysis was done in both cases, and a full penetrance CAG repeat expansion was found in both affected patients. Two different outcomes were observed in the offspring, who were both children. The risk and consequences of positive results had been explained in a counseling session to family members, who decided to keep the information until the child would have reached legally adult age.Conclusions: In developing countries such as Indonesia, problems arose due to ethical issues, knowledge of genetic diseases, and inaccessible molecular diagnostics. Culture, religion and tribe diversities may create additional challenges. These cases emphasize the need for careful consideration of presymptomatic testing in children, especially in complicated situations where psychological and ethical issues should be addressed.

Frequency of MTHFR GENE C677T Polymorphism for Non-Syndromic Autism Spectrum Disorder Patients Bremmy Laksono; Ani Melani Maskoen; Tri Indah Winarni; Syarief Taufik; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 1, No 2 (2015): December 2015
Publisher : Faculty of Medicine, Diponegoro University

Background: The folate metabolism is a pathway that may involve in the non-syndromic Autism Spectrum Disorder (ASD). Methylenetetrahydrofolate reductase enzyme has a key role in folate metabolism. The C677T polymorphism of MTHFR gene could reduce the effectiveness of the enzyme.Objectives: To evaluate the frequency of MTHFR geneC677T polymorphism for non-syndromic ASD patients.Method: Thirty-four DNA samples were taken from each group. PCR mixture was consisted of 1µL DNA, 2.5µL PCR buffer, 0.5µL dNTP, 1.5µL MgCL2, 0.125µLTaqenzyme, 0.5µLofforwardandreverseprimerandaquabidesttoreach a volume of 25 µL. The PCR profiles were initiation 95ºC for 5 min, denaturation 94ºC for 1min, annealing 55ºCfor 45 seconds, and elongation 72ºC for30 seconds. The cycles were done in 35 times an dfinal elongation was at 72ºC for 5min. The PCR product was 198bp, and then digested by the Hinfl enzyme for 16hours at 37°C, and visualized using2%agarosegeland then electrophoresed for 30 minutes at 100 volts.Result: Non-syndromic ASD samples showed none had homozygote mutant type (677TT), 3 (8.8%) samples had heterozygote (677CT)and 31 (91.2%) samples had wild type (677CC). Meanwhile, normal control showed only 1 (2.9%)sample had homozygote mutant type(677TT), 9 (26.5%) samples had heterozygote (677CT)and 24 (70.6%) samples had wild type (677CC).Conclusion: The frequency of MTHFR geneC677T polymorphism in patients with non-syndromic ASD and controls are not significantly different.

Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients Aisha Balkhar Ali; Rita Indriyati; Tri Indah Winarni; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 4, No 1 (2018): July 2018
Publisher : Faculty of Medicine, Diponegoro University

Background: Primary amenorrhea (PA) is a symptom that can be caused by different disorders such as gonadal, endocrinal, physiological and genetic disorders. Aim of study: This study provided the clinical and cytogenetic profiles of Indonesian primary amenorrhea patients and introduced clinical criteria of those patients with their karyotype results using score system. Methods: A retrospective descriptive study of 79 PA patients, whom referred to Cytogenetic and Molecular unit Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University. We made a scoring system consisted of 4 scores, all patients had been distributed to match the scores according to their clinical criterias and then confirmed with the karyotype results. Results: The karyotype results of 79 patients of PA revealed 55 (69.6%) patients with female karyotype 46,XX; 6 (7.6%) patients with male karyotype 46,XY; 8(10.1%) patients with monosomy X; 3 (3.8%) patients with 45,X/46,XX; 3 (3.8%) patients with Isochromosome 45 X/46, X,i(Xq). Mosaicism with Y constitution 45,X/46,XY was seen in 2 (2.5%) patients; marker chromosome 45,X/46,X+mar (2%) in 1 patient (1.3%); and chromosome 1 and X translocation 46,XX,t(1;X)(p34;q25) detected in 1(1.3%) patient. Scoring system results showed that all patients with normal karyotype (46,XX/46,XY) were matched with score 1 and 2 while 17 patients with chromosomal abnormalities were matched with score 3 and 4, only 1 patient with mosaic Turner syndrome 45,X(10%)/46,XX(90%) matched score 1. Conclusion: Turner syndrome was the most common cause of primary amenorrhea which attests the importance of cytogenetic analysis for diagnosis of primary amenorrhea patients. The scoring system needs further validated for measuring reliability and validity.

Factors Affecting Parents' Acceptance towards Children with Familial Intellectual Disability (ID) Elsa Gusrianti; Tri Indah Winarni; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 4, No 2 (2018): December 2018
Publisher : Faculty of Medicine, Diponegoro University

Background: Familial intellectual disability (ID) is a condition where two or more family members are affected ID, which may influence the whole family well-being. Children with intellectual disability often receive negative response from the society, which may trigger different reactions from the parents, such as denial or neglect of their child. Besides, most parents give more attention and provide the best care for their children. Factors that may influence parents’ acceptance towards children with familial ID are social support, religious coping, supporting facilities, family income, education, mothers’s age, and other significant factors.Objective: This study was aimed to analyze factors that affect parents’ acceptance towards children with familial intellectual disabilities (ID).Methods: This was an analytic observational study with cross sectional approach. Data were collected using interview with 20 mothers of familial intellectually disabled children including demographic data, pedigree construction, using Parental Rejection Questionnaire (PARQ), Brief Arab Religious Coping Scale (BARCS), Social Support Questionnaire Short Form (SSQSR) and Supporting Facilities Questionnaires. Data was analyzed using multivariate logistic regression.Results: Parents’ acceptance was significantly affect by social support (p<0.05), while religious coping, supporting facilities, family income, education, and mothers’s age did not significantly influence parents’ acceptance (p >0.05).Conclusion: Social support has influenced parent’s acceptance of their familial ID Children

Delayed Puberty in Girls with Primary Amenorrhea: A Report of Cases Fatinah Shahab; Inu Mulyantoro; Hary Tjahjanto; Tri Indah Winarni; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 7, No 2 (2021): August 2021
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v7i2.12054

Background:Female puberty starts when the pituitary hormone producing follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which will stimulate the ovaries to produce estrogen. Delayed puberty with primary amenorrhea in female is the lack of breast development followed by the absence of menses 3 years after the initiation of breast development. Sex chromosomes have an important role in determining the sex, germ cell differentiation of foetus, and reproductive functions of an offspring, thus, sex chromosomal aberrations frequently cause primary amenorrheaCase presentation: We report two delayed puberty cases with the chief complain of primary amenorrhea. Both cases showed hypoplasia of uterus and ovaries on pelvic imaging and hormonal assay showed low of FSH. The first case was gonadal dysgenesis with 46,XX karyotype and low level of estrogen and the second case was a turner syndrome with 45,X karyotype and normal level of estrogen. Conclusion:This study reported delayed puberty with primary amenorrhea cases due to different chromosomal aberration pattern which have similar clinical features. Therefore, cytogenetic examination is needed for any primary amenorrhea cases in order to accomplish the confirmatory diagnosis and for the clinicians to make a correct intervention and treatment.

Co-Authors A, Mahayu Dewi Achmad Zulfa Juniarto Afif, Ilham Afif, Ilham Yustar Agustini Utari Aisha Balkhar Ali Alifiati Fitrikasari Ammarullah, Muhammad Andria Pragholapati Ani Melani Maskoen Annastasia Ediati Atanasius Priharyoto Bayuseno Azalia, Putri Banundari Rachmawati Bremmy Laksono Budi Mulyono Cinta Cynthia Rudianto Donna Hermawati Edi Dharmana Enny Probosari Farmaditya EP Mundhofir Farmaditya EP Mundhofir Fatinah Shahab Ferdy Kurniawan Cayami Fitria Handayani Gara Samara Brajadenta Gatot Irawan Sarosa, Gatot Irawan Gunawan, I Putu Gde Fredy Hary Tjahjanto Heri Nugroho Hertanto Wahyu Subagio Husaini, Farhan Husaini, Farhan Ali Ignatius Riwanto, Ignatius Indriyati, Rita Inu Mulyantoro J. Jamari Jamari, J Jessica Juan Pramudita Lamura, M Danny Lamura, M. Danny Pratama Lestari, Esa Loyallita Lisyani B.Suromo Lisyani Budipardigdo Suromo Maria Belladonna Rahmawati Maula, Mohammad Meira Erawati Meita Hendrianingtyas Mohamad Izzur Maula Mohammad Sulchan Muhamad Bilal Mursyd, Ariq Imam Nani Maharani Nur Setiawati Dewi Nurul Ratna Mutu Manikam Nydia Rena Benita Sihombing Nyoman Suci Widyastiti Permatasari, Galuh Arum Ponco Birowo Pramudtya, Reza Rafli, Muhammad Rahman Jamal Rama, Leonardo Jalusius Rita Indriyati Selanno, Fradelino Esau Selvia Eva Sabatini Sihombing, Nydia Rena Benita Suardani, Ni Wayan Sue-Mian Then Suhartono, Suhartono Sultana MH Faradz Syarief Taufik Tithasiri Audi Audi Rahardjo Tri Nur Kristina Vynda Ulvyana Wicaksono, Hasyid Ahmad Zulfikar Ali, Zulfikar

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