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Tytuł:
A rare variant of mullerian agenesis: a case report and review of the literature.
Autorzy:
Tayade SD; Intern, RAK Medical and Health Sciences University, Ras Al Khaimah, UAE.
Mehdi N; Emirates Health Service, Dubai, UAE.
Dube R; Obstetrics and Gynecology, RAK Medical and Health Sciences University, Ras Al Khaimah, UAE. .
Bose V; Intern, RAK Medical and Health Sciences University, Ras Al Khaimah, UAE.
Ameer A; Intern, RAK Medical and Health Sciences University, Ras Al Khaimah, UAE.
Hakim ZT; Obstetrics and Gynecology, Specialist in Minimally Invasive Surgery, Latifa Women and Children Hospital, Dubai, UAE.
Wattiez A; Gynecology and Minimally Invasive Surgery, Department of Gynecology, Latifa Women and Children Hospital, Dubai, UAE.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2024 Mar 25; Vol. 18 (1), pp. 126. Date of Electronic Publication: 2024 Mar 25.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
46, XX Disorders of Sex Development*/complications
46, XX Disorders of Sex Development*/diagnosis
Congenital Abnormalities*/diagnosis
Mullerian Ducts/*abnormalities
Female ; Humans ; Adult ; Amenorrhea/complications ; Vagina/diagnostic imaging ; Vagina/abnormalities
SCR Disease Name:
Mullerian aplasia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Aromatase deficiency in transplanted bone marrow cells improves vertebral trabecular bone quantity, connectivity, and mineralization and decreases cortical porosity in murine bone marrow transplant recipients.
Autorzy:
Rubitschung K; Department of Radiology, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America.
Sherwood A; Department of Radiology, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America.
Kapadia R; Scanco USA Incorporated, Wayne, Pennsylvania, United States of America.
Xi Y; Department of Radiology, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America.
Hajibeigi A; Department of Radiology, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America.
Rubinow KB; Division of Metabolism, Endocrinology, and Nutrition, University of Washington Medicine Diabetes Institute, Seattle, Washington, United States of America.
Zerwekh JE; Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, UT Southwestern Medical Center, Dallas, Texas, United States of America.
Öz OK; Department of Radiology, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America.; Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, UT Southwestern Medical Center, Dallas, Texas, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Feb 05; Vol. 19 (2), pp. e0296390. Date of Electronic Publication: 2024 Feb 05 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Aromatase*/genetics
Aromatase*/metabolism
Bone Marrow Transplantation*
Gynecomastia*
Infertility, Male*
Metabolism, Inborn Errors*
46, XX Disorders of Sex Development*
Mice ; Animals ; Male ; Cancellous Bone/diagnostic imaging ; Cancellous Bone/metabolism ; Porosity ; Mice, Inbred C57BL ; Estrogens ; Estradiol ; Bone Marrow Cells/metabolism ; Spine/metabolism ; Mice, Knockout
SCR Disease Name:
Aromatase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Association of Y chromosome AZF region microdeletions with recurrent miscarriage in Iranian couples: A case-control study.
Autorzy:
Pazoki N; Department of Genetics, Faculty of Biological Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Salehi M; Department of Biology, Faculty of Biological Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Angaji SA; Department of Cell and Molecular Biology, School of Biological Sciences, Kharazmi University, Tehran, Iran.
Abdollahpour-Alitappeh M; Cellular and Molecular Biology Research Center, Larestan University of Medical Sciences, Larestan, Iran.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2392.
Typ publikacji:
Journal Article
MeSH Terms:
Semen*
Abortion, Habitual*/genetics
Sex Chromosome Aberrations*
Sex Chromosome Disorders of Sex Development*
Chromosome Deletion*
Infertility, Male*
Female ; Pregnancy ; Male ; Humans ; Iran ; Case-Control Studies ; Sperm Motility ; Y Chromosome ; Chromosomes, Human, Y
SCR Disease Name:
Male sterility due to Y-chromosome deletions
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Sperm function is required for suppressing locomotor activity of C. elegans hermaphrodites.
Autorzy:
Suo S; Department of Pharmacology, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
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Źródło:
PloS one [PLoS One] 2024 Jan 25; Vol. 19 (1), pp. e0297802. Date of Electronic Publication: 2024 Jan 25 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Nematoda*
Disorders of Sex Development*/genetics
Animals ; Female ; Male ; Caenorhabditis elegans/genetics ; Semen ; Spermatozoa/physiology ; Fertilization
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han population.
Autorzy:
Su K; The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Municipal Key Clinical Specialty, Shanghai, China.
Liu H; The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Municipal Key Clinical Specialty, Shanghai, China.
Ye X; Women's Hospital, School of Medicine, Zhejiang University, Zhejiang, China.
Jin H; Women's Hospital, School of Medicine, Zhejiang University, Zhejiang, China.
Xie Z; Women's Hospital, School of Medicine, Zhejiang University, Zhejiang, China.
Yang C; Women's Hospital, School of Medicine, Zhejiang University, Zhejiang, China.
Zhou D; Bio-X Institutes of Shanghai Jiao Tong University, Shanghai, China.
Huang H; The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China.; Research Units of Embryo Original Diseases, Chinese Academy of Medical Sciences (No. 2019RU056), Shanghai, China.
Wu Y; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China.; Research Units of Embryo Original Diseases, Chinese Academy of Medical Sciences (No. 2019RU056), Shanghai, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2280. Date of Electronic Publication: 2023 Oct 03.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
46, XX Disorders of Sex Development*/genetics
Congenital Abnormalities*
Mullerian Ducts/*abnormalities
Humans ; Female ; Retrospective Studies ; Comparative Genomic Hybridization ; T-Box Domain Proteins/genetics
SCR Disease Name:
Mullerian aplasia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.
Autorzy:
Dube R; Department of Obstetrics and Gynaecology, RAK College of Medical Sciences, RAK Medical & Health Sciences University, Ras al Khaimah P.O. Box 11172, United Arab Emirates.
Kar SS; Department of Paediatrics and Neonatology, RAK College of Medical Sciences, RAK Medical & Health Sciences University, Ras al Khaimah P.O. Box 11172, United Arab Emirates.
Jhancy M; Department of Paediatrics and Neonatology, RAK College of Medical Sciences, RAK Medical & Health Sciences University, Ras al Khaimah P.O. Box 11172, United Arab Emirates.
George BT; Department of General Surgery, RAK College of Medical Sciences, RAK Medical & Health Sciences University, Ras al Khaimah P.O. Box 11172, United Arab Emirates.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 21; Vol. 25 (1). Date of Electronic Publication: 2023 Dec 21.
Typ publikacji:
Systematic Review; Journal Article; Review
MeSH Terms:
Infertility*
46, XX Disorders of Sex Development*/genetics
Congenital Abnormalities*
Humans ; Female ; Mullerian Ducts ; Mosaicism
SCR Disease Name:
Mullerian aplasia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature.
Autorzy:
Bbs K; Department of Pathological Anatomy, Teaching Hospital of Treichville, Treichville, Côte d'Ivoire.
Ad A; Department of Pathological Anatomy, Teaching Hospital of Treichville, Treichville, Côte d'Ivoire.
Djiwa T; Department of Pathological Anatomy, Teaching Hospital of Lomé, University of Lomé, Lomé, BP 1515, Togo. .
B T; Department of Pathological Anatomy, Teaching Hospital of Treichville, Treichville, Côte d'Ivoire.
M K; Department of Pathological Anatomy, Teaching Hospital of Treichville, Treichville, Côte d'Ivoire.
Ke K; Department of Pathological Anatomy, Teaching Hospital of Treichville, Treichville, Côte d'Ivoire.
Na A; Department of Pathological Anatomy, Teaching Hospital of Bouaké, Bouaké, Côte d'Ivoire.
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Źródło:
BMC women's health [BMC Womens Health] 2023 Oct 24; Vol. 23 (1), pp. 549. Date of Electronic Publication: 2023 Oct 24.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Ovotesticular Disorders of Sex Development*/complications
Ovotesticular Disorders of Sex Development*/diagnosis
Ovotesticular Disorders of Sex Development*/genetics
Adolescent ; Female ; Humans ; Male ; Karyotype ; Ovary/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A clue to the etiology of disorders of sex development from identity-by-descent analysis in dogs with cryptic relatedness.
Autorzy:
Szydlowski M; Department of Genetics and Animal Breeding, Poznań University of Life Sciences, Poznań, Poland.
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Źródło:
Animal genetics [Anim Genet] 2023 Apr; Vol. 54 (2), pp. 166-176. Date of Electronic Publication: 2022 Nov 28.
Typ publikacji:
Journal Article
MeSH Terms:
Ovotesticular Disorders of Sex Development*/genetics
Ovotesticular Disorders of Sex Development*/veterinary
Disorders of Sex Development*/genetics
Disorders of Sex Development*/veterinary
Dog Diseases*/genetics
Male ; Dogs ; Animals ; Testis ; Sex Chromosomes
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
Autorzy:
Martinez de Lapiscina I; Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland.; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.; Endo-ERN, Amsterdam, The Netherlands.
Kouri C; Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland.; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland.
Aurrekoetxea J; Biocruces Bizkaia Health Research Institute, Research Group of Medical Oncology, Cruces University Hospital, Barakaldo, Spain.; University of the Basque Country (UPV-EHU), Leioa, Spain.
Sanchez M; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.
Naamneh Elzenaty R; Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland.; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland.
Sauter KS; Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland.; Department for BioMedical Research, University of Bern, Bern, Switzerland.
Camats N; Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.; Vall d'Hebron Research Institute (VHIR), Growth and Development group, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Grau G; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Endo-ERN, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain.
Rica I; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.; Endo-ERN, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain.
Rodriguez A; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain.
Vela A; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.; Endo-ERN, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain.
Cortazar A; Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Endocrinology Department, Cruces University Hospital, Barakaldo, Spain.
Alonso-Cerezo MC; La Princesa University Hospital, Madrid, Spain.
Bahillo P; Department of Pediatrics, Pediatric Endocrinology Unit, x Clinic University Hospital of Valladolid, Valladolid, Spain.
Bertholt L; Pediatric Endocrinology Department, Marques de Valdecilla University Hospital, Santander, Spain.
Esteva I; Endocrinology Section, Gender Identity Unit, Regional University Hospital of Malaga, Malaga, Spain.
Castaño L; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.; Endo-ERN, Amsterdam, The Netherlands.; University of the Basque Country (UPV-EHU), Leioa, Spain.; Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain.
Flück CE; Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland.; Department for BioMedical Research, University of Bern, Bern, Switzerland.
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Źródło:
PloS one [PLoS One] 2023 Jul 11; Vol. 18 (7), pp. e0287515. Date of Electronic Publication: 2023 Jul 11 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cryptorchidism*
Disorders of Sex Development*/genetics
Humans ; Male ; Sexual Development ; Algorithms ; Causality ; Steroidogenic Factor 1/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Lesbian, gay, bisexual, transgender, intersex, and its legalisation in Africa: Insights from tertiary-level students in Ghana.
Autorzy:
Acquah F; Department of Health Administration and Education, Faculty of Science Education, University of Education, Winneba, Central Region, Ghana.
Botchwey CO; Department of Health Administration and Education, Faculty of Science Education, University of Education, Winneba, Central Region, Ghana.
Adoma PO; Department of Health Administration and Education, Faculty of Science Education, University of Education, Winneba, Central Region, Ghana.
Kumah E; Department of Health Administration and Education, Faculty of Science Education, University of Education, Winneba, Central Region, Ghana.
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Źródło:
PloS one [PLoS One] 2023 Jul 07; Vol. 18 (7), pp. e0287726. Date of Electronic Publication: 2023 Jul 07 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Transgender Persons*
Sexual and Gender Minorities*
Disorders of Sex Development*
Female ; Infant, Newborn ; Humans ; Ghana ; Cross-Sectional Studies ; Students
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Successful in Vitro Fertilization Pregnancy and Delivery by an Infertile Woman with Ovotesticular Disorder of Sex Development: A Case Report.
Autorzy:
Matsuda S; Department of Obstetrics and Gynecology, Nippon Medical School Hospital.
Kuwabara Y; Department of Obstetrics and Gynecology, Nippon Medical School Hospital.
Kato R; Department of Obstetrics and Gynecology, Nippon Medical School Hospital.
Nakao K; Department of Obstetrics and Gynecology, Nippon Medical School Hospital.
Yonezawa M; Department of Obstetrics and Gynecology, Nippon Medical School Hospital.
Ono S; Department of Obstetrics and Gynecology, Nippon Medical School Hospital.
Ichikawa T; Department of Obstetrics and Gynecology, Nippon Medical School Hospital.
Akira S; Department of Obstetrics and Gynecology, Nippon Medical School Hospital.
Takeshita T; Department of Obstetrics and Gynecology, Nippon Medical School Hospital.
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Źródło:
Journal of Nippon Medical School = Nippon Ika Daigaku zasshi [J Nippon Med Sch] 2023 May 30; Vol. 90 (2), pp. 240-244. Date of Electronic Publication: 2022 Jan 25.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Ovotesticular Disorders of Sex Development*/diagnosis
Dyspareunia*
Pregnancy ; Humans ; Male ; Female ; Cesarean Section ; Coitus ; Fertilization in Vitro
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Management of Gender Determination of Newborns and Children with Disorders of Sex Development Using a Multidisciplinary Approach: An Exploratory Study of Islamic Perspective in Malaysia.
Autorzy:
Mohamed MS; Department of Science and Technology Studies, Faculty of Science, Universiti Malaya, 50603, Kuala Lumpur, Malaysia. .
Halim ZA; Department of Science and Technology Studies, Faculty of Science, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.
Azizan SA; Department of Science and Technology Studies, Faculty of Science, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.
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Źródło:
Journal of religion and health [J Relig Health] 2023 Apr; Vol. 62 (2), pp. 797-818. Date of Electronic Publication: 2022 Sep 07.
Typ publikacji:
Journal Article
MeSH Terms:
Disorders of Sex Development*/psychology
Disorders of Sex Development*/surgery
Humans ; Child ; Infant, Newborn ; Malaysia ; Reproducibility of Results ; Bioethical Issues ; Islam ; Religion and Medicine
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.
Autorzy:
Hattori A; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya, Tokyo 157-8535, Japan.; Division of Diversity Research, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya, Tokyo 157-8535, Japan.
Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya, Tokyo 157-8535, Japan.; Division of Diversity Research, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya, Tokyo 157-8535, Japan.
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Źródło:
Biomolecules [Biomolecules] 2023 Apr 19; Vol. 13 (4). Date of Electronic Publication: 2023 Apr 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Disorder of Sex Development, 46,XY*/genetics
Ovotesticular Disorders of Sex Development*/genetics
Receptors, Cytoplasmic and Nuclear*/genetics
Humans ; Male ; Mutation ; Phenotype ; Sexual Development ; Testis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mayer-Rokitansky-Küster-Hauser Syndrome with Situs Inversus Totalis: A Rare Case Report.
Autorzy:
Soekersi H; Department of Radiology, Faculty of Medicine Universitas Padjadjaran, Bandung, West Java, Indonesia.
Hernowo RPA; Department of Radiology, Faculty of Medicine Universitas Padjadjaran, Bandung, West Java, Indonesia.
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Źródło:
The American journal of case reports [Am J Case Rep] 2023 Feb 11; Vol. 24, pp. e939011. Date of Electronic Publication: 2023 Feb 11.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
46, XX Disorders of Sex Development*/diagnosis
46, XX Disorders of Sex Development*/diagnostic imaging
Dextrocardia*
Female ; Humans ; Uterus/diagnostic imaging ; Uterus/abnormalities ; Vagina/diagnostic imaging ; Vagina/abnormalities
SCR Disease Name:
Mullerian aplasia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.
Autorzy:
Kirino S; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Yogi A; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Adachi E; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Nakatani H; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Gau M; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Iemura R; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Yamano H; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Kanamori T; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Mori T; Department of Nephrology, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Sohara E; Department of Nephrology, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Uchida S; Department of Nephrology, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Okamoto K; Department of Pediatric Surgery, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Udagawa T; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Takasawa K; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Morio T; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Kashimada K; Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
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Źródło:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2023; Vol. 17 (1), pp. 51-55. Date of Electronic Publication: 2023 Feb 16.
Typ publikacji:
Case Reports; News
MeSH Terms:
46, XX Disorders of Sex Development*/genetics
46, XX Disorders of Sex Development*/pathology
Disorders of Sex Development*/genetics
Humans ; Male ; Female ; Adolescent ; Zinc Fingers/genetics ; Virilism ; Genitalia ; Biological Variation, Population ; WT1 Proteins
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
True hermaphroditism with sex cord tumor with annular tubules (SCTAT): a rare case report and review of the literature.
Autorzy:
Shi S; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Wannan Medical College, No. 2 Zheshan West Road, Wuhu, 241000, China.
Tang M; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Wannan Medical College, No. 2 Zheshan West Road, Wuhu, 241000, China.
Li W; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Wannan Medical College, No. 2 Zheshan West Road, Wuhu, 241000, China.
Wu H; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Wannan Medical College, No. 2 Zheshan West Road, Wuhu, 241000, China.
Liu Y; Department of Pathology, The First Affiliated Hospital of Wannan Medical College, Wuhu, China.
Luo Y; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Wannan Medical College, No. 2 Zheshan West Road, Wuhu, 241000, China.
Ding H; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Wannan Medical College, No. 2 Zheshan West Road, Wuhu, 241000, China. .
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Źródło:
BMC women's health [BMC Womens Health] 2022 Dec 27; Vol. 22 (1), pp. 551. Date of Electronic Publication: 2022 Dec 27.
Typ publikacji:
Review; Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Ovarian Neoplasms*/complications
Ovarian Neoplasms*/diagnosis
Ovarian Neoplasms*/surgery
Ovotesticular Disorders of Sex Development*/complications
Ovotesticular Disorders of Sex Development*/diagnosis
Ovotesticular Disorders of Sex Development*/surgery
Sex Cord-Gonadal Stromal Tumors*/complications
Sex Cord-Gonadal Stromal Tumors*/diagnosis
Sex Cord-Gonadal Stromal Tumors*/surgery
Male ; Female ; Humans ; Adolescent ; Prognosis
Czasopismo naukowe
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Tytuł:
Copy number variation of horse Y chromosome genes in normal equine populations and in horses with abnormal sex development and subfertility: relationship of copy number variations with Y haplogroups.
Autorzy:
Castaneda C; Department of Veterinary Integrative Biosciences, School of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 7784-4458, USA.
Radović L; Department of Biomedical Sciences, Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Vienna 1210, Austria.; Vienna Graduate School of Population Genetics, University of Veterinary Medicine Vienna, Vienna 1210, Austria.
Felkel S; Department of Biomedical Sciences, Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Vienna 1210, Austria.; Vienna Graduate School of Population Genetics, University of Veterinary Medicine Vienna, Vienna 1210, Austria.; Department of Biotechnology, Institute of Computational Biology, BOKU University of Life Sciences and Natural Resources, Vienna 1190, Austria.
Juras R; Department of Veterinary Integrative Biosciences, School of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 7784-4458, USA.
Davis BW; Department of Veterinary Integrative Biosciences, School of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 7784-4458, USA.
Cothran EG; Department of Veterinary Integrative Biosciences, School of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 7784-4458, USA.
Wallner B; Department of Biomedical Sciences, Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Vienna 1210, Austria.
Raudsepp T; Department of Veterinary Integrative Biosciences, School of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 7784-4458, USA.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2022 Dec 01; Vol. 12 (12).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Disorders of Sex Development*/genetics
Horses*/genetics
Infertility, Male*/genetics
Infertility, Male*/veterinary
Animals ; Male ; DNA Copy Number Variations/genetics ; Genes, Y-Linked/genetics ; Mammals/genetics ; Sexual Development ; Y Chromosome/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Autorzy:
Capron C; Département de Génétique, CHI de Poissy St Germain en Laye, Poissy, 78300, France.
Januel L; Service de Génétique, Hospices Civils de Lyon, Lyon, 69000, France.
Vieville G; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble Cedex, 38000, France.; INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Université Grenoble Alpes, Grenoble, 38000, France.
Jaillard S; Cytogénétique et Biologie cellulaire, CHU de Rennes, Rennes, 35000, France.; IRSET - INSERM UMR1085 - Equipe Physiologie et physiopathologie du tractus uro-génital, Faculté de Médecine, Université de Rennes 1, Rennes, 35000, France.
Kuentz P; Oncobiologie Génétique Bioinformatique, PCBio, CHU Besançon, Besançon, 25000, France.
Salaun G; CHU Clermont-Ferrand, Cytogénétique Médicale, Clermont-Ferrand, 63000, France.
Nadeau G; Laboratoire de Cytogénétique, CH de Chambéry, Chambéry, 73000, France.
Clement P; Laboratoire Clément, Le Blanc Mesnil, Mesnil, 93110, France.
Brechard MP; Laboratoire, Hôpital Saint Joseph, Marseille, 13285, France.
Herve B; Département de Génétique, CHI de Poissy St Germain en Laye, Poissy, 78300, France.
Dupont JM; APHP Centre Université de Paris - site Cochin, Paris, 75014, France.
Gruchy N; Service de Génétique - CHU de Caen - Site Clémenceau, Caen, 14000, France.; EA7450, Université Caen Normandie, Caen, 14000, France.
Chambon P; UNIROUEN, Inserm U1245, Université de Normandie, Rouen, 76000, France.; Département de Génétique, CHU Rouen, Rouen, 76000, France.
Abdelhedi F; Service de Génétique Médicale, CHU Hédi Chaker, Sfax, 3000, Tunisie.; Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Sfax, 3000, Tunisie.
Dahlen E; Oncobiologie Génétique Bioinformatique, PCBio, CHU Besançon, Besançon, 25000, France.
Vago P; CHU Clermont-Ferrand, Cytogénétique Médicale, Clermont-Ferrand, 63000, France.
Harbuz R; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble Cedex, 38000, France.
Plotton I; Service de Médecine de la Reproduction, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, 69500, France.; Laboratoire d'hormonologie et endocrinologie Moléculaire, Hospices Civils de Lyon, Bron, France.; Unité INSERM 1208, Université Lyon 1, Lyon, 69500, France.
Coutton C; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble Cedex, 38000, France.; INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Université Grenoble Alpes, Grenoble, 38000, France.
Belaud-Rotureau MA; Cytogénétique et Biologie cellulaire, CHU de Rennes, Rennes, 35000, France.; IRSET - INSERM UMR1085 - Equipe Physiologie et physiopathologie du tractus uro-génital, Faculté de Médecine, Université de Rennes 1, Rennes, 35000, France.
Schluth-Bolard C; Service de Génétique, Hospices Civils de Lyon, Lyon, 69000, France.; Institut Neuromyogène, Equipe Métabolisme Énergétique et Développement Neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, 69000, France.
Vialard F; Département de Génétique, CHI de Poissy St Germain en Laye, Poissy, 78300, France.; UMR-BREED, INRAE, ENVA, UVSQ, UFR SVS, Montigny le Bretonneux, 78180, France.
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Źródło:
Andrology [Andrology] 2022 Nov; Vol. 10 (8), pp. 1625-1631. Date of Electronic Publication: 2022 Sep 07.
Typ publikacji:
Journal Article
MeSH Terms:
46, XX Testicular Disorders of Sex Development*/genetics
Arylsulfatases*/genetics
Testicular Diseases*
Humans ; Male ; Protein Kinases ; Translocation, Genetic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report
Autorzy:
Mengen E; Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Kayhan G; Gazi University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey
Kocaay P; Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Uçaktürk SA; Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2020 Sep 02; Vol. 12 (3), pp. 308-314. Date of Electronic Publication: 2019 Sep 03.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Genes, sry*
46, XX Disorders of Sex Development/*genetics
Ovotesticular Disorders of Sex Development/*genetics
SOX9 Transcription Factor/*genetics
46, XX Disorders of Sex Development/pathology ; Child, Preschool ; Disorders of Sex Development/genetics ; Female ; Gene Deletion ; Gene Duplication ; Humans ; Male ; Ovotesticular Disorders of Sex Development/pathology ; Promoter Regions, Genetic/genetics ; Turkey
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development.
Autorzy:
Wei J; Department of Urology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Wu J; Department of Gastroenterology, The Affiliated Hospital of Hangzhou Normal University, Hangzhou, China.
Ru W; Department of Urology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Chen G; Department of Urology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Gao L; Department of Urology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Tang D; Department of Urology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2022 Aug 15; Vol. 15 (1), pp. 178. Date of Electronic Publication: 2022 Aug 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disorder of Sex Development, 46,XY*/genetics
Disorders of Sex Development*
Hedgehog Proteins*/genetics
Adolescent ; Female ; Hormones ; Humans ; Infant ; Male ; Mutation ; Siblings
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 2335

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