• Title/Summary/Keyword: Disorders of sex development.

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Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature

  • Lee, Bom Yi;Lee, Shin Young;Lee, Yeon Woo;Kim, Shin Young;Kim, Jin Woo;Ryu, Hyun Mee;Lee, Joong Shik;Park, So Yeon;Seo, Ju Tae
    • Journal of Genetic Medicine
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    • v.13 no.2
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    • pp.78-88
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    • 2016
  • 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.

The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant in NR5A1

  • Lia Kim;Hwa Young Kim;Jung Min Ko
    • Journal of Genetic Medicine
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    • v.19 no.2
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    • pp.115-119
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    • 2022
  • The 46,XX testicular disorder of sex development (DSD) is a rare condition in which 46,XX individuals develop testicular differentiation and virilization. Translocation of the sex-determining region Y (SRY) onto the X chromosome is the main cause of 46,XX testicular DSD, whereas dysregulation between pro-testis and pro-ovarian genes can induce SRY-negative 46,XX testicular DSD. Nuclear receptor subfamily 5 group A member 1 (NR5A1), a nuclear receptor transcription factor, plays an essential role in gonadal development in XY and XX embryos. Herein, we report the first Korean case of SRY-negative 46,XX testicular DSD with a heterozygous NR5A1 p.Arg92Trp variant. The patient presented with a small penis, bifid scrotum, and bilateral undescended testes. Whole exome sequencing revealed a heterozygous missense variant (c.274C>T) of NR5A1. Our case highlights that NR5A1 gene variants need to be considered important causative factors of SRY-negative non-syndromic 46,XX testicular DSD.

A Study on the Speech Rates of 5- to 7-Year-old Children Depending upon their Tasks (과업에 따른 학령전기($5{\sim}7$세) 아동의 구어속도에 관한 연구)

  • Shin, Myung-Sun;Ahn, Jong-Bok
    • Phonetics and Speech Sciences
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    • v.1 no.3
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    • pp.163-168
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    • 2009
  • This study investigated the determination of speech rates, words per minute (WPM) and syllables per minute (SPM), of $5{\sim}7$ year-old normal children to understand if there are any differences in the rates according to the children's age and sex. All participants were required to conduct story retelling tasks (SRT) and picture description tasks (PDT). In SRT, there was a significant difference between the groups of 5 year-old and 7 year-old children on WPM. However, there was no significant difference between the groups of ages regarding SPM. In addition, there was no significant difference between the groups according to sex on WPM and SPM. In PDT, there was no significant difference between the groups according to their ages and sex on WPM and SPM. The current research found that the speech rates of the preschool children might be somewhat different in their utterance abilities according to their age, but there was no obvious difference according to their sex. The findings can advance development of a clinical tool to screen children with fluency disorders and to determine the steps in establishing speech rates of children in the language development period.

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Prevalence and Treatment Patterns of Sleep Disorders in the Under 20 Population: analysis using a national health insurance claims database

  • Lee, Jang Won;Hwang, Jinseub;Hyun, Min Kyung
    • Journal of Pharmacopuncture
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    • v.25 no.3
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    • pp.276-289
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    • 2022
  • Objectives: Child and adolescent sleep is an important factor for brain and physical development. Therefore, it is necessary to investigate the prevalence of sleep disorders and nonorganic sleep disorders in children and adolescents and determine the type of utilization of medical institutions. This study analyzed the prevalence and type of medical institutions in Korean children and adolescents with sleep disorders and nonorganic sleep disorders. Methods: This study used data recorded in the Health Insurance Review and Assessment-National Patient Sample (HIRA-NPS) database from 2010 to 2017. Details of medical institution type and patient's sex, age, and treatment type were extracted for patients younger than 20 years with sleep disorders and nonorganic sleep disorders. Results: Among 2,536,478 patients under age 20, we identified 3,772 patients with sleep disorders or nonorganic sleep disorders. From 2010 to 2017, the prevalence of sleep disorders in children and adolescents was 0.07% to 0.09%. The utilization rate of Korean medical institutions was 30.47%. The prevalence of nonorganic sleep disorders and the utilization rate of Korean medical institutions were 0.06% to 0.08% and 45.99%, respectively. Conclusion: The prevalence of sleep disorders and nonorganic sleep disorders in the under-20 population was 0.14% to 0.16%. More than 70% of patients with nonorganic sleep disorder who were younger than 9 years used Korean medical institutions.

Association between assisted reproductive technology and autism spectrum disorders in Iran: a case-control study

  • Jenabi, Ensiyeh;Seyedi, Mahdieh;Hamzehei, Ronak;Bashirian, Saeid;Rezaei, Mohammad;Razjouyan, Katayoon;Khazaei, Salman
    • Clinical and Experimental Pediatrics
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    • v.63 no.9
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    • pp.368-372
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    • 2020
  • Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by impairments in social interaction and verbal and nonverbal communication. Purpose: Determine the association between use of assisted reproduction technology (ART) and the risk of ASD among children. Methods: This case-control study included 300 participants (100 cases, 200 controls). The control group included women with a child aged 2-10 years without ASD, while the cases were women with a child aged 2-10 years with ASD. We used a researcher-made questionnaire. Data were analyzed using Stata ver. 14 at the 0.05 significance level. Results: In the univariate analysis, there was significant association between child sex, delivery mode, history of preterm delivery, history of using ART, and maternal age at child's birth and the risk of ASD. After the adjustment for other variables, this association was significant for male sex (2.66; 95% confidence interval [CI], 1.11-4.31; P=0.001) and history of using ART (4.03; 95% CI, 1.76-9.21; P=0.001). Therefore, after the adjustment for confounder variables, there was no significant association between ART and the risk of ASD among children (4.98; 95% CI, 0.91-27.30; P=0.065). Conclusion: After the adjustment for other variables, risk factors for ASD were male sex and history preterm delivery. Thus, there was no significant association between ART and the risk of ASD among children.

The Research of Job Stress and MSDs Symptoms of Small Plants with Agricultural Products (소규모 농산물 가공사업장 작업자의 직무스트레스 평가 및 근골격계부담작업 유해요인 조사)

  • Koo, Hye-Ran;Shin, Yong-Seok;Chae, Hye-Seon;Lee, Kyung-Suk
    • Journal of Agricultural Extension & Community Development
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    • v.18 no.4
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    • pp.861-877
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    • 2011
  • The purpose of this study is to survey job stress and Musculoskeletal Disorder(MSDs) of workers in small plants with agricultural products. The subjects were comprised of 69 workers participated in "Helping the rural women to get the small businesses" project. The questionnaire surveys were Korean Occupational Stress Scale(KOSS), and Legal Risk Assessment of Musculoskeletal Disorders(KOSHA CODE H-30-2003). As a result of the survey, scores of KOSS 8 sub-items except for job demand were similar to that of Korea workers. Prevalence of MSDs symptoms of small plants workers was high percent (44.9%). And the rate according to kinds of product was significant difference at neck (p<0.01), lumbar (p<0.01), and leg (p<0.01). There was no significant difference between view person sign of MSDs and non MSDs according to sex, year, the number of workers, working years, working time per one day, rest time per one day, and subjective working intensity, but there were significant difference between high stress group and low stress group about MSDs at interpersonal conflict(p<0.05). Job stress and MSDs were important factor to workers of small plants producted agricultural products. Therefore, starting a business with small plats, workers consider interpersonal conflict and body part showing MSDs.

Knowledge, Satisfaction, and Education Needs in Sexual Rehabilitation of Male Patients with Spinal Cord-Injury (척수장애 남자 환자의 성재활 지식, 성생활 만족 및 성재활 교육 요구)

  • Kim, Sun-Joung;Lim, Ji-Young;Cho, In-Sook;Ham, Ok-Kyung
    • Journal of Korean Academic Society of Home Health Care Nursing
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    • v.15 no.2
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    • pp.91-98
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    • 2008
  • Purpose: We measured the knowledge, satisfaction, and education needs in sexual rehabilitation of male patients diagnosed with a spinal cord injury. Methods: We recruited 104 patients from a general rehabilitation hospital. Data were collected between April 4 and May 9, 2008. Knowledge of sexual rehabilitation, satisfaction, and educational needs were measured using self-report questionnaires. Results: Points for knowledge of sexual rehabilitation were 6.75 out of 20, sexual satisfaction was 3.02 out of 5, and demand for sexual rehabilitation education were 3.54 out of 5. Most (93.27%) of the patients wanted to have a sex life, and many (75%)were willing to participate in sexual rehabilitation education. There were no differences in knowledge or satisfaction based on general characteristics. However, sexual satisfaction of the university graduates was higher than the lower education group. Conclusion: Male patients with spinal cord disorders are interested in a sex life and demand sexual rehabilitation education. These findings should support the development of sexual rehabilitation programs.

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A study on stress in Children (소아(小兒) stress에 관한 문헌적(文獻的) 고찰(考察))

  • Kim, Ki-Bong;Kim, Jang-Hyun
    • The Journal of Pediatrics of Korean Medicine
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    • v.16 no.1
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    • pp.105-124
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    • 2002
  • With the progress of civilization, the disorders due to the stress, which derived from the social-structural complexity and diversity, are on an increasing trend in our times. Accordingly, the accurate diagnosis and appropriate treatment for them are required. Especially in the current years, children's disorders delivered by the emotional problems keep increasing. In this research, the researcher tried to figure out the cause of the children's stress and its treatment, studied the theories of the stress in the modem medicine and the sever emotions in oriental medicine, and came to the conclusion as follows: 1. The stress can be defined as the combination of the reaction to noxious stimuli and its defense mechanism of the body, In oriental medicine, it is considered as pathological notions which includes seven emotions as the internal factor, six evils as the external factor and other foods, expectoration, ecchymoma as the non-internal/external factors. 2. Children usually get stressed by various reasons in a growth process such as schooling, relationship with friends, the opposite sex of family, or change of surroundings, and these can cause the various disorders. 3. In the study of the children's stress symptoms, it is found that the silent reaction is uncommon. It usually appeared in both reactions: firs, physical reactions such as stomachache, vomiting, headache, neural frequent urination, bronchial asthma or excessive respiration and/or, second, behavioral reactions such as a decline of performance, alimentary disorder, e.g. anorexia nervosa or bulimia, sleep disorder, e.g. nightmare or panic in sleep, anthrophobia, refusal to a school attendance or hyperactiveness. Besides, the peculiar mental disorder such as paroxysm of anger, tic, autism, nocturnal enuresis, lack of attentiveness, impediment in linguistic development, learning difficulty, intellectual decline, etc. can be appeared, and the heavy stress during the babyhood can cause the regression of behavior or the immaturity of formation of character. 4. The appropriate treatments for the children's stress are Osteopathy, Manpulation, Aroma Therapy, Alexander Technique, Autonomic Never Control Treatment, Biofeedback, Chiropractic, Dance Therapy, Feldenkrasis Technique, Gravity Therapy, Homepathy, Aquatherapy, Hypnotherapy, Naturopathy and Meditation.

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Effects of Testosterone on White Adipose and Liver Tissues in Male Castrated C57BL/6J Mice

  • Jeong, Sun-Hyo;Yoon, Mi-Chung
    • Biomedical Science Letters
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    • v.13 no.2
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    • pp.91-97
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    • 2007
  • Obesity is defined as increased mass of adipose tissue, conferring a higher risk of cardiovascular and metabolic disorders such as diabetes, hyperlipidemia, and coronary heart disease. To get a better understanding of the role of a male sex hormone testosterone on obesity, we thus measured the effects of testosterone on white adipose tissue (WAT) mass, adipocyte histology and hepatic lipid accumulation in male castrated (CAST) C57BL/6J mice. Compared to male CAST control mice, testosterone-treated mice had the decreased WAT mass and the increased the number of adipocytes. Especially, histological data showed that the adipocyte size was reduced in a dose-dependent manner and was most effective at dose 150 $\mu$g per mouse for testosterone. In addition, the administration of testosterone resulted in the inhibition of hepatic lipid accumulation compared with control mice. Our results suggest that testosterone regulates adipocytes development and hepatic lipid metabolism, resulting in the prevention of obesity in male CAST mice.

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Artificial gametes from stem cells

  • Moreno, Inmaculada;Miguez-Forjan, Jose Manuel;Simon, Carlos
    • Clinical and Experimental Reproductive Medicine
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    • v.42 no.2
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    • pp.33-44
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    • 2015
  • The generation of artificial gametes is a real challenge for the scientific community today. In vitro development of human eggs and sperm will pave the way for the understanding of the complex process of human gametogenesis and will provide with human gametes for the study of infertility and the onset of some inherited disorders. However, the great promise of artificial gametes resides in their future application on reproductive treatments for all these people wishing to have genetically related children and for which gamete donation is now their unique option of parenthood. This is the case of infertile patients devoid of suitable gametes, same sex couples, singles and those fertile couples in a high risk of transmitting serious diseases to their progeny. In the search of the best method to obtain artificial gametes, many researchers have successfully obtained human germ cell-like cells from stem cells at different stages of differentiation. In the near future, this field will evolve to new methods providing not only viable but also functional and safe artificial germ cells. These artificial sperm and eggs should be able to recapitulate all the genetic and epigenetic processes needed for the correct gametogenesis, fertilization and embryogenesis leading to the birth of a healthy and fertile newborn.