ORCID Profile
0000-0002-5466-7690
Current Organisation
Universitas Diponegoro Fakultas Kedokteran
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Publisher: Springer Science and Business Media LLC
Date: 18-02-2021
DOI: 10.1186/S43042-021-00134-3
Abstract: Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization in 46, XY in iduals. The aim of this study was to investigate the frequency of pathogenic variants in the AR gene in a cohort of 46, XY undermasculinized in iduals from Indonesia who were suspected of having androgen insensitivity syndrome (AIS). All patients with 46, XY DSD referred to our center between 1994 and 2019 were collected from our clinical database. All 46, XY DSD patients without a prior molecular diagnosis with an external masculinization score (EMS) ≤ 9 were included in this study. All exons and intron–exon boundaries of AR gene were analyzed using Sanger sequencing to identify pathogenic variants of the AR gene. A cohort of 75 undermasculinized patients were selected for the study. Direct Sanger sequencing of all eight exons of the AR gene led to a genetic diagnosis in 11 patients (14.67%). All of the variants identified (p.Arg841His p.Ile604Asn p.Val731Met p.Pro672Ser p.Gln739Arg p.Ser302Glufs*3) have been previously reported in patients with AIS. This is the first study in Indonesia that highlights the significance of molecular analysis in providing a definitive diagnosis of AIS for patients with 46, XY DSD undermasculinization. This is an uncommon finding in the Indonesian population presenting with 46, XY DSD undermasculinization. A genetic diagnosis allows optimal clinical management and genetic counseling for patients and their families. As 46, XY DSD can be caused by pathogenic variants in other genes involved in gonadal development and differentiation, further genetic analysis, such as whole exome sequencing, should be carried out on those patients that did not carry an AR variant.
Publisher: Springer Science and Business Media LLC
Date: 16-02-2017
Publisher: Wiley
Date: 04-04-2016
DOI: 10.1111/CEN.13051
Abstract: The objective of this study was to determine the aetiological spectrum of disorders of sex development (DSD) in a large cohort of underprivileged and undiagnosed patients from Indonesia. A total of 286 patients with atypical external and/or internal genitalia were evaluated using clinical, hormonal, molecular genetic and histological parameters. The age (years) at presentation was 0-0·5 in 41 (14·3%), >0·5-12 in 181 (63·3%) and >12 in 64 cases (22·4%). 46,XY DSD was most common (68·2%, n = 195), 46,XX DSD was found in 23·4% (n = 67) and sex chromosomal DSD in 8·4% (n = 24). In 61·2% of 46,XX DSD patients, 17·9% of 46,XY DSD patients and all sex chromosome DSD patients (29·4% in total), a final diagnosis was reached based on genetic or histological gonadal tissue evaluation. 17-hydroxyprogesterone and androstenedione levels were the most distinctive parameters in 46,XX DSD patients. In 46,XY DSD, diagnostic groups were identified based on the external masculinization score: androgen action disorder (AAD), unknown male undermasculinization (UMU), and gonadal dysgenesis (GD). LH, FSH and testosterone levels were most informative especially in the older age group. HCG tests were of no additional value as no patients with androgen synthesis disorders were found. Hormonal profiles of patients with sex chromosome DSD and a Y-chromosome sequence containing karyotype showed high levels of LH and FSH, and low levels of AMH, inhibin B and testosterone compared with the normal male range. Gene mutations were found in all patients with CAH, but in only 24·5% and 1·8% of patients with AAD and UMU. In 32% of 46,XY GD patients, copy number variants of different genes were found. A stepwise diagnostic approach led to a molecularly or histologically proven final diagnosis in 29·4% of the patients. The most informative parameters were serum levels of 17-hydroxyprogesterone and androstenedione in 46,XX DSD patients, and serum LH, FSH and testosterone levels in 46,XY DSD patients.
Publisher: Informa UK Limited
Date: 23-04-2019
Publisher: Faculty of Medicine, Universitas Indonesia
Date: 02-07-2020
Abstract: [This corrects the article DOI: 10.13181/mji.v28i2.3008]
Publisher: S. Karger AG
Date: 12-2018
DOI: 10.1159/000494896
Abstract: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder of sex development which affects 1 in 4,500 females and is characterized by agenesis of müllerian structures, including the uterus, cervix, and upper vagina. It can occur in isolation (type 1) or in conjunction with various anomalies (type 2), with a subset of these comprising müllerian, renal, and cervicothoracic abnormalities (MURCS) association. The genetic causes of MRKH have been investigated previously yielding limited results, with massive parallel sequencing becoming increasingly utilized. We sought to identify genetic contributions to MRKH using a combination of microarray and whole exome sequencing (WES) on a cohort of 8 unrelated women with MRKH and MURCS. WES data were analysed using a candidate gene approach to identify potential contributing variants. Microarray analysis identified a 0.6-Mb deletion in the previously implicated 16p11.2 region in a patient with MRKH type 2. WES revealed 16 rare nonsynonymous variants in MRKH candidate genes across the cohort. These included variants in several genes, such as i LRP10 /i and i DOCK4, /i associated with disorders with müllerian anomalies. Further functional studies of these variants will help to delineate their biological significance and expand the genotypic spectrum of MRKH.
Publisher: Enviro Research Publishers
Date: 28-12-2020
Abstract: The antioxidant activity of Nothopanax scutellarius (Burm. f.) Merr, an edible plant, can prevent oxidative stress in metabolic syndrome (MetS). Thus, our research aimed to study the effect of dietary inclusion of fresh or boiled N. scutellarius on body weight and biochemical markers of Wistar rats with MetS. Twenty-four male Wistar rats were ided randomly into four groups, i.e., normal control group, high-fat-high-fructose diet (HFFD) group, fresh N. scutellarius (FNs) group, and boiled N. scutellarius (BNs) group. The normal control group was fed only a standard diet during the entire experiment. High-fat and high-fructose (HFHFr) diet accompanied with 20% fructose in drinking water to induce MetS was given to the HFFD, FNs, and BNs groups for 29 days. This was followed by a 29-day intervention diet in which standard normal diet, fresh N. scutellarius-containing standard diet, and boiled N. scutellarius-containing standard diet were given to the HFFD, FNs, and BNs groups, respectively. HFHFr diet significantly (p .05) raised fasting blood glucose (FBG), serum triglyceride, total cholesterol, LDL-cholesterol, and malondialdehyde (MDA), and significantly (p .05) reduced HDL-cholesterol. After 29 days on the intervention diet, serum triglycerides, total cholesterol, and LDL-cholesterol levels were found to decrease, and HDL-cholesterol levels were found to increase significantly (p .05). Thus, it can be concluded that dietary intake of N. scutellarius for 29 days can improve MetS components, i.e., FBG, serum lipid profile, and MDA, similar to those seen in rats on a normal control diet.
Publisher: Springer Science and Business Media LLC
Date: 29-11-2016
Publisher: Bentham Science Publishers Ltd.
Date: 11-08-2021
DOI: 10.2174/1573401316666201208101359
Abstract: Etlingera elatior (Ee) contains phytochemical compounds that are rich in antioxidants, which may reduce several biochemical markers of metabolic syndrome (MetS). We aimed to study the effect of fresh Etlingera elatior (FEe) and steamed Etlingera elatior (SEe) as a part of rat diet on body weight, serum lipid, and malondialdehyde (MDA) level in Wistar rats with MetS induced by a high-fat, high-fructose diet. Our research was a true experimental randomized control group design with pre- and post-test. A total of 24 male Wistar rats were ided randomly into the following four groups: 1) Control, fed standard rat diet during the whole duration of the study, 2) HFFr-Sd, fed high-fat high- -fructose (HFFr) diet for 29 days, followed by 29 days of the standard diet, 3) HFFr-FEe, fed HFFr diet for 29 days, followed by 29 days of a standard diet containing 33.3% FEe, and 4) HFFr-SEe, fed HFFr diet for 29 days, followed by 29 days of a standard diet containing 33.3% SEe. The HFFr diet was given at 15 g/day along with fructose drink (20% pure fructose) at 100 ml/day. The diets in each group after the MetS induction period are referred to as intervention diets. Data at the end of HFFr (pre) and intervention diets (post) were analyzed by paired t-test. The data among groups were analyzed by one-way analysis of variance followed by post hoc test. HFFr diet for 29 days induced MetS in Wistar rats fulfilling the criteria of obesity (Lee Index), hypertriglyceridemia, and decreased high-density lipoprotein cholesterol (HDL-C). Also, there was a significant increase in serum total cholesterol, low-density lipoprotein cholesterol (LDL-C), and MDA level (p 0.05). Feeding a diet containing FEe or SEe can significantly reduce body weight, serum triglyceride, total cholesterol, LDL-C, and MDA, and increase HDL-C levels (p 0.05). The effect of FEe was more pronounced in ameliorating body weight and lipid profile than SEe. Fresh Ee and Steamed Ee can ameliorate obesity, dyslipidemia, and oxidative stress in MetS Wistar rats induced by a high-fat, high-fructose diet. It suggests that dietary Ee accounting for one-third of daily standard diet can assist in normalizing some MetS markers in rats.
No related grants have been discovered for Achmad Zulfa Juniarto.