المؤلفون: Hassan HA; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt. heba.amin@yahoo.com., Mazen I; Department of Clinical Genetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Elaidy A; Department of Clinical Genetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Kamel AK; Department of Human Cytogenetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Eissa NR; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt., Essawi ML; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt.

المصدر: Hormones (Athens, Greece) [Hormones (Athens)] 2024 Jun; Vol. 23 (2), pp. 305-312. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101142469 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2520-8721 (Electronic) Linking ISSN: 11093099 NLM ISO Abbreviation: Hormones (Athens) Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Receptors, LH*/genetics , Disorder of Sex Development, 46,XY*/genetics , Disorder of Sex Development, 46,XY*/diagnosis, Humans ; Male ; Exome Sequencing ; Protein Sorting Signals/genetics ; Mutation, Missense ; Steroid Metabolism, Inborn Errors/genetics ; Alleles ; Testis/abnormalities

SCR Disease Name: Leydig Cell Hypoplasia

المؤلفون: Jiang W; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China., Yu J; Meishan Women and Children's Hospital, Alliance Hospital of West China Second University Hospital, Sichuan University, Meishan, China., Mao Y; Department of Pediatric Surgery, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China., Tang Y; Department of Pediatric Surgery, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China., Cao L; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China., Du Q; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China., Li J; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China., Yang J; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 May; Vol. 12 (5), pp. e2453.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Disorder of Sex Development, 46,XY*/genetics , Disorder of Sex Development, 46,XY*/pathology , DEAD-box RNA Helicases*/genetics , DEAD-box RNA Helicases*/metabolism, Humans ; Male ; Female ; HEK293 Cells

المؤلفون: Yu T; Department of Gynecology and Obstetrics, West China Xiamen Hospital of Sichuan University, Xiamen, China., Liu L; Department of Emergency, The First Affiliated Hospital of Jiamusi University, Jiamusi, Heilongjiang, China.

المصدر: Medicine [Medicine (Baltimore)] 2024 Jun 21; Vol. 103 (25), pp. e38297.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

مواضيع طبية MeSH: Androgen-Insensitivity Syndrome*/genetics , Androgen-Insensitivity Syndrome*/diagnosis , Androgen-Insensitivity Syndrome*/complications , Gonadal Dysgenesis, 46,XY*/genetics , Gonadal Dysgenesis, 46,XY*/diagnosis, Humans ; Male ; Female ; Gonadoblastoma/genetics ; Gonadoblastoma/diagnosis ; Gonadoblastoma/surgery

المؤلفون: Raafat S; Department of Pediatric Endocrinology, Alexandria Faculty of Medicine, Alexandria, Egypt., Abdelmeguid Y; Department of Pediatric Endocrinology, Alexandria Faculty of Medicine, Alexandria, Egypt., Kotb M; Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, Egypt. Correspondence to: Dr. Mostafa Kotb, Lecturer, Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, Egypt 21615 mostafa.rashad@alexmed.edu.eg., Oshiba A; Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, Egypt.

المصدر: Indian pediatrics [Indian Pediatr] 2024 Jun 15; Vol. 61 (6), pp. 551-557. Date of Electronic Publication: 2024 Apr 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0974-7559 (Electronic) Linking ISSN: 00196061 NLM ISO Abbreviation: Indian Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Disorder of Sex Development, 46,XY*/diagnosis , Disorder of Sex Development, 46,XY*/genetics , Disorder of Sex Development, 46,XY*/epidemiology, Humans ; Male ; Female ; Retrospective Studies ; Child ; Infant ; Child, Preschool ; Egypt/epidemiology ; Adolescent ; Infant, Newborn ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/epidemiology

المؤلفون: Upadhyay AK; Medical Oncology, Tata Main Hospital, Jamshedpur, Jharkhand, India dramit1111@gmail.com., Pradhan S; Surgery, Steel City Clinic And Research Centre, Jamshedpur, Jharkhand, India., Shekhar S; Medical Oncology, Meherbai Tata Memorial Hospital, Jamshedpur, Jharkhand, India., Jakka SD; Department of Pathology, Tata Main Hospital, Jamshedpur, Jharkhand, India., Kumar A; Department of Nuclear Medicine, Tata Main Hospital, Jamshedpur, Jharkhand, India., Rana F; Department of Pathology, Tata Main Hospital, Jamshedpur, Jharkhand, India.

المصدر: BMJ case reports [BMJ Case Rep] 2024 May 28; Vol. 17 (5). Date of Electronic Publication: 2024 May 28.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Testicular Neoplasms*/surgery , Testicular Neoplasms*/diagnosis , Testicular Neoplasms*/complications , Testicular Neoplasms*/diagnostic imaging , Neoplasms, Germ Cell and Embryonal*/surgery , Neoplasms, Germ Cell and Embryonal*/complications , Neoplasms, Germ Cell and Embryonal*/diagnosis , Neoplasms, Germ Cell and Embryonal*/diagnostic imaging , Testis*/abnormalities , Testis*/surgery , Testis*/diagnostic imaging , Disorder of Sex Development, 46,XY*/diagnosis , Disorder of Sex Development, 46,XY*/surgery , Disorder of Sex Development, 46,XY*/complications, Humans ; Male ; Adult ; Choristoma/surgery ; Choristoma/diagnosis ; Choristoma/complications ; Choristoma/diagnostic imaging

SCR Disease Name: Persistent Mullerian duct syndrome; Testicular Germ Cell Tumor

المؤلفون: Barki D; Bangalore Baptist Hospital, India., Manayath N; Bangalore Baptist Hospital, India., Vatsa BS; Bangalore Baptist Hospital, India., Venkatanarasimhan N S; Bangalore Baptist Hospital, India., Vishnuvardhana G V; Bangalore Baptist Hospital, India., Achar S; Bangalore Baptist Hospital, India., Bhat B; Bangalore Baptist Hospital, India.

المصدر: Annals of the Royal College of Surgeons of England [Ann R Coll Surg Engl] 2024 May; Vol. 106 (5), pp. 466-470. Date of Electronic Publication: 2023 Dec 01.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Royal College of Surgeons of England Country of Publication: England NLM ID: 7506860 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1478-7083 (Electronic) Linking ISSN: 00358843 NLM ISO Abbreviation: Ann R Coll Surg Engl Subsets: MEDLINE

مواضيع طبية MeSH: Testicular Neoplasms*/diagnosis , Testicular Neoplasms*/pathology , Testicular Neoplasms*/surgery , Testicular Neoplasms*/complications , Disorder of Sex Development, 46,XY*/diagnosis , Disorder of Sex Development, 46,XY*/complications , Testis*/abnormalities , Testis*/pathology , Testis*/surgery , Testis*/diagnostic imaging, Humans ; Male ; Middle Aged ; Cryptorchidism/diagnosis ; Cryptorchidism/surgery ; Cryptorchidism/complications ; Hernia, Inguinal/diagnosis ; Hernia, Inguinal/surgery ; Tomography, X-Ray Computed ; Choristoma/diagnosis ; Choristoma/complications ; Choristoma/pathology ; Seminoma/diagnosis ; Seminoma/surgery ; Seminoma/complications ; Seminoma/pathology

SCR Disease Name: Persistent Mullerian duct syndrome

المؤلفون: Phadte A; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Dhole C; Department of Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, India., Hegishte S; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Sarathi V; Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India., Lila A; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Gada JV; Department of Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, India., Memon SS; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Arya S; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Karlekar M; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Patil V; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Varthakavi PK; Department of Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, India., Shah N; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Bhagwat NM; Department of Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, India., Bandgar T; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.

المصدر: Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 May; Vol. 100 (5), pp. 431-440. Date of Electronic Publication: 2024 Feb 18.

نوع المنشور: Systematic Review; Journal Article

بيانات الدورية: Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2265 (Electronic) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital*/diagnosis , Disorder of Sex Development, 46,XY*, Adolescent ; Humans ; Male ; Female ; Mutation/genetics ; Phosphoproteins/genetics ; Phosphoproteins/metabolism ; Phenotype ; Genotype

SCR Disease Name: Lipoid congenital adrenal hyperplasia

المؤلفون: Del Gobbo GF; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Wang X; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada., Mackay L; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada., Goldsmith C; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada., Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Liang Y; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada., Lambert C; PacBio of California, Inc, Menlo Park, California, USA., Zhang S; PacBio of California, Inc, Menlo Park, California, USA., Dhillon H; PacBio of California, Inc, Menlo Park, California, USA., Fanslow C; PacBio of California, Inc, Menlo Park, California, USA., Rowell WJ; PacBio of California, Inc, Menlo Park, California, USA., Marshall CR; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Newborn Screening Ontario, Ottawa, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

مؤلفون مشاركون: Care4Rare Canada Consortium; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63522. Date of Electronic Publication: 2023 Dec 22.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Retroelements*/genetics , Disorder of Sex Development, 46,XY*/genetics, Humans ; Mutation ; Introns/genetics ; Rare Diseases/genetics ; Sexual Development ; Steroidogenic Factor 1/genetics

المؤلفون: Hannema SE; Erasmus MC, Sophia Children's Hospital, University Medical Center Rotterdam, DSD-Expert Center, Rotterdam, the Netherlands.; Department of Pediatric Endocrinology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.; Department of Paediatric Endocrinology, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Wolffenbuttel KP; Erasmus MC, Sophia Children's Hospital, University Medical Center Rotterdam, DSD-Expert Center, Rotterdam, the Netherlands.; Department of Urology and Pediatric Urology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., van Bever Y; Erasmus MC, Sophia Children's Hospital, University Medical Center Rotterdam, DSD-Expert Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Bruggenwirth HT; Erasmus MC, Sophia Children's Hospital, University Medical Center Rotterdam, DSD-Expert Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Hersmus R; Erasmus MC, Sophia Children's Hospital, University Medical Center Rotterdam, DSD-Expert Center, Rotterdam, the Netherlands.; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Oosterhuis JW; Erasmus MC, Sophia Children's Hospital, University Medical Center Rotterdam, DSD-Expert Center, Rotterdam, the Netherlands.; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Department of Pathology, Princess Máxima Center for Pediatric Oncology, University Medical Center Utrecht, Utrecht, The Netherlands., Looijenga LHJ; Erasmus MC, Sophia Children's Hospital, University Medical Center Rotterdam, DSD-Expert Center, Rotterdam, the Netherlands.; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Department of Pathology, Princess Máxima Center for Pediatric Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.

المصدر: Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 May; Vol. 100 (5), pp. 466-467. Date of Electronic Publication: 2024 Mar 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2265 (Electronic) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE

مواضيع طبية MeSH: Gonadal Dysgenesis, 46,XY*/diagnosis , Neoplasms*, Testis/*abnormalities, Male ; Humans ; Testis/pathology

SCR Disease Name: Anorchia

المؤلفون: Kırkgöz T; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Gürsoy S; Deparment of Paediatric Genetics, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Acar S; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Köprülü Ö; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Özkaya B; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Arslan G; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Nalbantoğlu Ö; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Hazan F; Department of Medical Genetics, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Özkan B; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye.

المصدر: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Apr 23; Vol. 37 (6), pp. 575-579. Date of Electronic Publication: 2024 Apr 23 (Print Publication: 2024).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Steroidogenic Factor 1*/genetics , Disorder of Sex Development, 46,XY*/genetics , Homozygote*, Humans ; Female ; Male ; Infant ; Mutation ; Prognosis