A5079851927- Sexual Differentiation and Disorders
- Urological Disorders and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Neurodegenerative Diseases
- Reproductive Biology and Fertility
- Dermatoglyphics and Human Traits
- Bee Products Chemical Analysis
- RNA Research and Splicing
- Hormonal and reproductive studies
- Urologic and reproductive health conditions
- Ovarian function and disorders
- Assisted Reproductive Technology and Twin Pregnancy
- Renal and related cancers
- Advanced Drug Delivery Systems
- Hedgehog Signaling Pathway Studies
- Congenital Diaphragmatic Hernia Studies
- Hypothalamic control of reproductive hormones
- Birth, Development, and Health
- BRCA gene mutations in cancer
- Demographic Trends and Gender Preferences
- Testicular diseases and treatments
- Reproductive Health and Technologies
- Muscle Physiology and Disorders
- Genetics and Physical Performance
- Molecular Biology Techniques and Applications
Diponegoro University
2012-2024
Murdoch Children's Research Institute
2021
Universitas 17 Agustus 1945 Semarang
2017
Variants in the NR5A1 gene encoding SF1 have been described a diverse spectrum of disorders sex development (DSD). Recently, we reported use targeted panel for DSD where identified 15 individuals with variant NR5A1, nine which are novel. Here, examine functional effect these changes relation to patient phenotype. All novel variants tested had reduced trans-activational activity, while several altered protein level, localization, or conformation. In addition, found evidence new roles domains...
Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many which play a role in development function GnRH neurons, have been implicated these disorders. Clinically, CHH KS heterogeneous; however, 46,XY patients, they can be characterised under-virilisation...
Background: Complete androgen insensitivity syndrome (CAIS) is a congenital condition caused by genetic defects in the receptor (AR) gene located on X chromosome, which lead to phenotypical female individual with 46, XY karyotype. Early diagnosis of CAIS essential for proper clinical management, allows assessment familial risk and contributes healthcare decisions. However, can be overlooked girls inguinal hernia, resulting inappropriate management. Methods: Five patients from three unrelated...
Background Desert hedgehog ( DHH ) gene variants are known to cause 46,XY differences/disorders of sex development (DSD). We have identified six patients with DSD seven novel variants. Many these were classified as uncertain significance due their heterozygosity or associated milder phenotype. To assess variant pathogenicity and refine the spectrum DSDs this gene, we carried out first reported functional testing activity. Methods A cell co-culture method was used induction Hedgehog...
Background: Plaque is the main cause of caries and periodontal disease. Caries disease can be prevented by inhibiting dental plaque formation. To inhibit formation plaque, teeth must brushed with toothpaste. According to previous studies, propolis contains apigenin tt-farnesol classified as flavonoid that glucosyltransferase enzym membrane integrity Streptococcus mutans. Purpose: The aim this study was determine effect toothpaste containing on plaque. Methods: Post test only control group...
<b><i>Background:</i></b> Our multidisciplinary team (MDT) is a large specialized based in Semarang, Indonesia, that cares for wide variety of pediatric and adult individuals with differences sex development (DSD) from across Indonesia. Here, we describe our work over the last 17 years. <b><i>Methods:</i></b> We analyzed phenotypic, hormonal, genetic findings clinical records all patients referred to MDT during period 2004–2020....
Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality life. A standardized protocol for in Indonesia is not yet available resulting infrequently received a proper diagnosis. This study reported multidisciplinary DSD based on minimal diagnostic facilities and expertise developing country.Objectives The purpose the review relates providing appropriate gender assignment improving life.Methodology We analyzed records patient admitted division...
Abstract Background Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization 46, XY individuals. The aim this study was investigate frequency pathogenic AR a cohort undermasculinized individuals from Indonesia who were suspected having insensitivity syndrome (AIS). All patients with DSD referred our center between 1994 and 2019 collected clinical database. without prior molecular diagnosis an external...
Variants in bone morphogenetic protein 7 (BMP7) have been reported patients with hypospadias. Here we report and analyze two variants the BMP7 prodomain monozygotic twins hypospadias.Patients hypospadias were prospectively recruited. After informed consent was obtained, DNA extracted from blood. The coding regions of 1034 genes [including 64 known diagnostic candidate for disorder/difference sex development (DSD)] sequenced using a targeted capture approach (HaloPlex, Agilent, Santa Clara,...
Background: Disorders of sex development (DSD) are congenital conditions that present with atypical chromosomal, gonadal, or anatomical sex, while in clinical practice this term means any abnormality the external genitalia. Management DSD is challenging especially if identified at later age, creating complexities problems within families.
Background: Infertility has been a critical clinical problem, which affects 8–12% of couples worldwide. Failure reproductive system might be result both genetic and environmental factor. Fifteen percent male infertility cases are attributed to factors. The most important part spermatogenesis presents on specific region known as azoospermia factor (AZF) in Yq chromosome. Microdeletion the loci is one causes idiopathic infertile males. AZFa microdeletion associated with sertoli cell syndrome,...
Background: Spinocerebellar ataxia (SCA) is neurodegenerative disorders with autosomal dominant inheritance, characterized by progressive ataxia. More than 30 types of SCA are known caused various causative genes. SCA3 (MJD1 gene) the most common form SCA. We present an family complicated genetic counseling issue. Methods: A 44-year-old female was referred to our service for consultation. Pedigree construction, physical examination, and gene mutation analyses were performed on specimens from...
ABSTRACTBackground: Limb girdle muscular dystrophy (LGMD) is a neuromuscular abnormality with clinical heterogeneity and various severity, where over 30 subtypes have been identified. Meanwhile, molecular diagnosis of LGMD not commonly carried out in Indonesia. We present large pedigree familial LGMD, 14 years follow-up.Case Presentation: A 12-year old female patient came muscle weakness. She had toe walking since age 6, followed by calf hypertrophy for three years. Family history revealed...
Background:Chromosomal mosaicism is characterized by the presence of two or more distinct cell lines in an individual. Mosaicism sex chromosome a major component Disorders Sex Development (DSD) results large clinical spectrum genital ambiguity. Case Presentation:We report long term follow-up 15-year-old male who was evaluated for ambiguous genitalia with karyotype 46,XY (85%) / 46,XX (15%). He presented abnormal urethral opening (hypospadias) and left sided undescended testis since birth....
BACKGROUND Trinucleotide repeat expansion (TRE) diseases are genetic caused by an increase in the number of CAG, CGG, and CTG codons. CAG exon 1 androgen receptor (AR) gene is known to be associated with disorders sex development (DSD) spinal bulbar muscular atrophy (SBMA). Because traditional Southern blot for laborious time-consuming, this study was aimed use high-resolution melting (HRM) analysis screen length AR Indonesian patients DSD. METHODS In total, 30 male DSD (46, XY), one patient...
ABSTRACT Background:Primary amenorrhea may result from congenital abnormalities in the development of gonads, genital tract, or external genitalia a disturbance within hypothalamic-pituitary-ovarian axis. Gonadal dysgenesis is disorder sex which diagnosis based on histology gonads and main cause primary amenorrhea. Optimal protocol management for phenotypic female with 46, XY gonadal involves prophylactic gonadectomy at diagnosis.Case Presentation: The patient was referred to our hospital...
Background: The sex determination process requires distinct signaling pathways to generate either testis or ovaries from the same precursor structures, primordial gonad. Deviations of this mechanism may result in disorders/differences development (DSD). 46, XX testicular DSD is a rare genetic condition identified by discrepancy between and phenotypic caused reversal syndrome. Case Presentation: We describe case 5 years-old boy with ambiguous genitalia. On physical examination he had severe...