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: Adke S; Radiology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India., Khot CI; Radiology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India chandrakhot@gmail.com., Thakkar H; Radiology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India.

المصدر: BMJ case reports [BMJ Case Rep] 2024 Jul 23; Vol. 17 (7). Date of Electronic Publication: 2024 Jul 23.

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: Hernia, Inguinal*/surgery , Hernia, Inguinal*/complications , Hernia, Inguinal*/diagnosis , Cryptorchidism*/surgery , Cryptorchidism*/diagnosis , Cryptorchidism*/complications , Disorder of Sex Development, 46,XY*/surgery , Disorder of Sex Development, 46,XY*/diagnosis , Disorder of Sex Development, 46,XY*/complications, Humans ; Male ; Orchiopexy/methods ; Mullerian Ducts/abnormalities ; Mullerian Ducts/surgery

SCR Disease Name: Persistent Mullerian duct syndrome

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: Fu D; Department of Endocrinology, Genetics and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China. haiyanwei2009@163.com., Chen Y, Huang A, Wu X, Wang H, Wei H

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Aug 10; Vol. 41 (8), pp. 909-915.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Disorder of Sex Development, 46,XY*/genetics , Steroidogenic Factor 1*/genetics, Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Exome Sequencing ; Mutation ; Phenotype ; Retrospective Studies

المؤلفون: Khorashad BS; Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research Center, Michigan Medicine, University of Michigan Medical School, 2800 Plymouth Road, Ann Arbor, MI, 48109-2600, USA., Gardner M; Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research Center, Michigan Medicine, University of Michigan Medical School, 2800 Plymouth Road, Ann Arbor, MI, 48109-2600, USA., Lee PA; Department of Pediatrics, Penn State College of Medicine, Hershey, PA, USA., Kogan BA; Department of Urology, Albany Medical College, Albany, NY, USA., Sandberg DE; Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research Center, Michigan Medicine, University of Michigan Medical School, 2800 Plymouth Road, Ann Arbor, MI, 48109-2600, USA. dsandber@med.umich.edu.; Division of Pediatric Psychology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA. dsandber@med.umich.edu.

المصدر: Archives of sexual behavior [Arch Sex Behav] 2024 Aug; Vol. 53 (8), pp. 2939-2956. Date of Electronic Publication: 2024 Jul 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 1273516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2800 (Electronic) Linking ISSN: 00040002 NLM ISO Abbreviation: Arch Sex Behav Subsets: MEDLINE

مواضيع طبية MeSH: Disorder of Sex Development, 46,XY*, Humans ; Male ; Female ; Endocrinologists ; Urologists ; North America ; Infant, Newborn ; Clinical Decision-Making ; Adult ; Practice Patterns, Physicians'/statistics & numerical data ; Surveys and Questionnaires ; Child

المؤلفون: Altinkilic EM; Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Department of BioMedical Research, University of Bern, Bern, Switzerland., Augsburger P; Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Department of BioMedical Research, University of Bern, Bern, Switzerland.; Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland., Pandey AV; Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Department of BioMedical Research, University of Bern, Bern, Switzerland., Flück CE; Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Department of BioMedical Research, University of Bern, Bern, Switzerland.

المصدر: The Journal of endocrinology [J Endocrinol] 2024 Jul 18; Vol. 262 (3). Date of Electronic Publication: 2024 Jul 18 (Print Publication: 2024).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: BioScientifica Country of Publication: England NLM ID: 0375363 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1479-6805 (Electronic) Linking ISSN: 00220795 NLM ISO Abbreviation: J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Phosphoproteins*/genetics , Phosphoproteins*/metabolism , Adrenal Hyperplasia, Congenital*/genetics , Adrenal Hyperplasia, Congenital*/metabolism , Disorder of Sex Development, 46,XY*/genetics , Genetic Association Studies*, Humans ; Adrenal Insufficiency/genetics ; Adrenal Insufficiency/metabolism ; Mutation ; Cholesterol/metabolism ; Phenotype

SCR Disease Name: Lipoid congenital adrenal hyperplasia

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: 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