PURPOSE: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. MATERIALS AND METHODS: SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. RESULTS: Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%). CONCLUSION: We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.
Azoospermia ; Blood Cells ; Cytogenetic Analysis ; Disorders of Sex Development ; Gene Dosage ; Genes, sry ; Humans ; Infertility ; Male ; Polymerase Chain Reaction ; Retrospective Studies ; Sexual Development* ; X Chromosome

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)(pter-->q26.3::p11.2-->pter) by cytogenetic and molecular cytogenetic analyses including high resolution GTG- and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.
Choroid Plexus ; Chromosome Aberrations ; Chromosomes, Human, Pair 10 ; Cisterna Magna ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; Cytogenetics ; Female ; Fluorescence ; Germ Cells ; Humans ; In Situ Hybridization ; Infant, Newborn ; Jaundice, Neonatal ; Karyotype ; Korea ; Microsatellite Repeats ; Mosaicism ; Muscle Hypotonia ; Parents ; Parturition ; Polycystic Kidney Diseases ; Stomach ; Ultrasonography

OBJECTIVE: To evaluate the image characteristics of subtraction magnetic resonance venography (SMRV) from time-resolved contrast-enhanced MR angiography (TRMRA) compared with phase-contrast MR venography (PCMRV) and single-phase contrast-enhanced MR venography (CEMRV). MATERIALS AND METHODS: Twenty-one patients who underwent brain MR venography (MRV) using standard protocols (PCMRV, CEMRV, and TRMRA) were included. SMRV was made by subtracting the arterial phase data from the venous phase data in TRMRA. Co-registration and subtraction of the two volume data was done using commercially available software. Image quality and the degree of arterial contamination of the three MRVs were compared. In the three MRVs, 19 pre-defined venous structures (14 dural sinuses and 5 cerebral veins) were evaluated. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of the three MRVs were also compared. RESULTS: Single-phase contrast-enhanced MR venography showed better image quality (median score 4 in both reviewers) than did the other two MRVs (p < 0.001), whereas SMRV (median score 3 in both reviewers) and PCMRV (median score 3 in both reviewers) had similar image quality (p ≥ 0.951). SMRV (median score 0 in both reviewers) suppressed arterial signal better than did the other MRVs (median score 1 in CEMRV, median score 2 in PCMRV, both reviewers) (p < 0.001). The dural sinus score of SMRV (median and interquartile range [IQR] 48, 43-50 for reviewer 1, 47, 43-49 for reviewer 2) was significantly higher than for PCMRV (median and IQR 31, 25-34 for reviewer 1, 30, 23-32 for reviewer 2) (p < 0.01) and did not differ from that of CEMRV (median and IQR 50, 47-52 for reviewer 1, 49, 45-51 for reviewer 2) (p = 0.146 in reviewer 1 and 0.123 in reviewer 2). The SNR and CNR of SMRV (median and IQR 104.5, 83.1-121.2 and 104.1, 74.9-120.5, respectively) were between those of CEMRV (median and IQR 150.3, 111-182.6 and 148.4, 108-178.2) and PCMRV (median and IQR 59.4, 49.2-74.9 and 53.6, 43.8-69.2). CONCLUSION: Subtraction magnetic resonance venography is a promising MRV method, with acceptable image quality and good arterial suppression.
Adult ; Aged ; Cerebral Veins/radiography ; Cranial Sinuses/radiography ; Female ; Humans ; Magnetic Resonance Angiography/instrumentation/*methods ; Male ; Middle Aged ; Signal-To-Noise Ratio

PURPOSE: The aim of this study is to evaluate suitable tools for an approach to acute fecal impaction by comparison of the Leech, Barr and Blethyn scoring methods in pediatric emergency department (PED). METHODS: Children with diagnosis of fecal impaction were included in this study at PED of Seoul National University Hospital. Of them, 50 children were randomly selected and their radiographs were independently scored on two occasions at two weeks intervals using three scoring methods by nine emergency physicians and one radiologist. Inter-observer and intra-observer agreement were assessed by calculating intra-class correlation coefficient (ICC). Likert scale was used to assess the easiness and effectiveness of Leech, Barr and Blethyn scoring methods. RESULTS: (I) Inter-observer agreement: The ICC values of the Leech, Barr and Blethyn were 0.861, 0.887, and 0.821 at first trial and 0.889, 0.891, and 0.827 at second trial, respectively (p<0.001 for all). (II) Intra-observer agreement: Among researchers, the numbers who showed very confident (ICC>0.8) were 5, 6 and 2 in Leech, Barr and Blethyn, respectively. (III) Easiness and effectiveness: The mean Likert scale of the Leech, Barr and Blethyn in easiness was 4.4, 1.4, and 3.9 and in effectiveness, 3.9, 2.9, and 3.2, respectively; it showed significant differences for both attributes (p<0.001, p=0.03, respectively). In post-hoc test, the Leech was assumed to be easier and more effective than Barr (p<0.001). However, no significant differences in easiness and effectiveness were observed between Leech and Blethyn (p=0.37, p=0.14, respectively). CONCLUSION: The Leech, Barr and Blethyn have all good inter-observer agreement. The Leech has been found to carry better intra-observer agreement than the other two, and may be one of the easiest and most effective tools for the evaluation of acute fecal impaction in children in PED.
Child ; Emergencies ; Fecal Impaction ; Humans ; Observer Variation ; Radiography, Abdominal ; Research Design

PURPOSE: This study was designed to determine the frequency and echocardiographic findings of 22q11.2 deletions in fetuses with cardiac defects on fetal ultrasound or familial backgrounds of 22q11.2 deletions. MATERIALS AND METHODS: We retrospectively reviewed the medical and ultrasonographic records of 170 fetuses that underwent fluorescence in situ hybridization (FISH) analysis for chromosome 22q11.2 deletions between February 2001 and April 2013. RESULTS: Among 145 fetuses with cardiac defects, six (4.1%) had 22q11.2 deletions. Deletions of 22q11.2 were detected in 6 (5%) of the 120 fetuses with conotruncal defects: 5 (8.9%) of 56 with tetralogy of Fallot (TOF) and 1 (5.9%) of 17 with double outlet right ventricle (DORV). No deletions were found in cases of pulmonary atresia, truncus arteriosus, right aortic arch, or transposition of the great arteries. No 22q11.2 deletions were found in non-conotruncal cardiac malformations. Among 25 fetuses with familial backgrounds of 22q11.2 deletions, one (4%) had a maternally inherited 22q11.2 deletion with no cardiac findings. CONCLUSION: Knowledge of the frequency and echocardiographic findings of 22q11.2 deletions might be helpful for prenatal genetic counseling. It is advisable to perform FISH analysis for 22q11.2 deletions in pregnancies exhibiting conotruncal cardiac defects such as TOF or DORV.
Aorta, Thoracic ; Arteries ; Double Outlet Right Ventricle ; Echocardiography ; Fetus ; Fluorescence ; Genetic Counseling ; In Situ Hybridization ; Pregnancy ; Prenatal Diagnosis* ; Pulmonary Atresia ; Retrospective Studies ; Tetralogy of Fallot ; Truncus Arteriosus ; Ultrasonography

No abstract available.
Consensus ; Hyperthyroidism ; Thyroid Gland

PURPOSE: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. MATERIALS AND METHODS: We collected and reviewed records from our hospital for 2001-2010 and a genetic specialist provided-genetic counseling. RESULTS: We diagnosed 130 cases (0.71%) with SCA out of 18,376 prenatal cases from 2001 to 2010. We reviewed the records and the results of all pregnancies. We also included cases (n=84) of apparently normal anatomic fetuses to analyze the factors influencing parental decisions. We excluded 34 cases with an obvious anomaly or a presumably bad outcome and 12 cases that were not followed up. Forty-three couples (51.2%) continued their pregnancies while forty-one (48.8%) terminated them. Of 38 mosaicism cases, 21 (55.3%) were continued. Among the 20 pregnancies assisted by reproductive techniques, 15 (75%) were continued (P=0.02). More pregnancies were continued when genetic counseling was provided (61.9%) compared to cases in which it was not provided (19%) (P=0.01). CONCLUSION: Genetic counseling is important in providing appropriate information to parents. Establishing guidelines and protocols will help both obstetricians and parents to make informed decisions.
Family Characteristics ; Fetus ; Genetic Counseling ; Humans ; Mosaicism ; Parents ; Pregnancy ; Prenatal Diagnosis ; Reproductive Techniques ; Sex Chromosome Aberrations ; Sex Chromosomes ; Specialization

Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks for unbalanced karyotypes. However, various clinical phenotypes are seen due to breakpoint variation or recombination. We report a prenatally detected case of familial paracentric inversion of chromosome 18, inv(18)(q21.1q22), with normal clinical features.
Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; Karyotype ; Phenotype ; Recombination, Genetic

Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks for unbalanced karyotypes. However, various clinical phenotypes are seen due to breakpoint variation or recombination. We report a prenatally detected case of familial paracentric inversion of chromosome 18, inv(18)(q21.1q22), with normal clinical features.
Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; Karyotype ; Phenotype ; Recombination, Genetic

Structural abnormalities of the Y chromosome affect normal testicular differentiation and spermatogenesis. The present case showed a rare monocentric derivative Y chromosome with partial duplication of Yp including the SRY gene and deletion of Yq12 heterochromatin. The karyotype was 46,X,der(Y) (pter-->q11.23::p11.2-->pter).ish der(Y)(DYZ3+,DYZ1-,SRY++), confirmed through a FISH study. Even though the patient possessed an abnormal Y chromosome, testicular biopsy showed normal testicular volumes in the proband, with gonadal hormonal levels in the normal range but bilateral varicocele and hypospermatogenesis. We speculate that the abnormal Y chromosome arose from sister chromatids during Y chromosome recombination or intra chromosomal NAHR (non-allelic homologous recombination) during meiosis in the patient's father or in the very early stages of embryogenesis. The derivative Y chromosome might interfere in the meiotic stage of spermatogenesis, leading to the developmental arrest of germ cells. The present case illustrates that the infertility phenotype can have various causes. Also, it emphasizes the importance of accurate and various genetic analyses and could aid in male infertility treatment.
Azoospermia ; Biopsy ; Chromatids ; Embryonic Development ; Fathers ; Female ; Genes, sry ; Germ Cells ; Gonads ; Heterochromatin ; Humans ; Infertility ; Infertility, Male ; Karyotype ; Male ; Meiosis ; Oligospermia ; Phenotype ; Pregnancy ; Recombination, Genetic ; Reference Values ; Siblings ; Spermatogenesis ; Varicocele ; Y Chromosome