The epidemiology of disorders of sex development.

Authors: Berglund A; Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgårdsvej 21C, Aarhus N 8200, Denmark; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus 8200, Denmark. Electronic address: agnethe.berglund@clin.au.dk., Chang S; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus 8200, Denmark; Department of Molecular Medicine, Aarhus University Hospital, Brendstrupgårdsvej 21A, Aarhus 8200, Denmark. Electronic address: simon.chang@rsyd.dk., Lind-Holst M; Department of Pediatrics, H. C. Andersen Children's Hospital, Odense University Hospital, Kløvervænget 23C, Odense 5000, Denmark. Electronic address: marie.lind-holst@rsyd.dk., Stochholm K; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus 8200, Denmark; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Blvd. 82, Aarhus 8200, Denmark. Electronic address: kirstine.stochholm@rm.dk., Gravholt CH; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus 8200, Denmark; Department of Molecular Medicine, Aarhus University Hospital, Brendstrupgårdsvej 21A, Aarhus 8200, Denmark; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Blvd. 82, Aarhus 8200, Denmark. Electronic address: claus.gravholt@clin.au.dk.

Source: Best practice & research. Clinical endocrinology & metabolism [Best Pract Res Clin Endocrinol Metab] 2025 Jul; Vol. 39 (4), pp. 102002. Date of Electronic Publication: 2025 Apr 24.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101120682 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1594 (Electronic) Linking ISSN: 1521690X NLM ISO Abbreviation: Best Pract Res Clin Endocrinol Metab Subsets: MEDLINE

MeSH Terms: Disorders of Sex Development*/epidemiology , Disorders of Sex Development*/genetics, Humans ; Female ; Male ; Adrenal Hyperplasia, Congenital/epidemiology ; Prevalence ; 46, XX Disorders of Sex Development/epidemiology

Role of endocrine and genetic evaluation for infants with proximal hypospadias.

Authors: Lee VS; Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address: victoria.lee@northwestern.edu., Finlayson C; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Division of Endocrinology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. Electronic address: cfinlayson@luriechildrens.org., Hirsch J; Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. Electronic address: jahirsch@luriechildrens.org., Yerkes EB; Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address: eyerkes@luriechildrens.org., Weisman AG; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Division of Endocrinology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. Electronic address: aweisman@luriechildrens.org., Leeth EA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Division of Endocrinology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. Electronic address: eleeth@luriechildrens.org., Cheng EY; Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address: echeng@luriechildrens.org., Johnson EK; Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address: ekjohnson@luriechildrens.org.

Source: Journal of pediatric urology [J Pediatr Urol] 2025 Oct; Vol. 21 (5), pp. 1146-1153. Date of Electronic Publication: 2025 Apr 26.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101233150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4898 (Electronic) Linking ISSN: 14775131 NLM ISO Abbreviation: J Pediatr Urol Subsets: MEDLINE

MeSH Terms: Hypospadias*/genetics , Hypospadias*/diagnosis , Genetic Testing* , Disorders of Sex Development*/diagnosis , Disorders of Sex Development*/genetics, Humans ; Male ; Infant ; Retrospective Studies ; Infant, Newborn ; Phenotype ; Algorithms

[Expert consensus on genetic testing and genetic counseling for patients with disorders of sex development (2025)].

Corporate Authors: Subspecialty Group of Endocrinology, Hereditary and Metabolic Diseases, the Society of Pediatrics, Chinese Medical Association, Chinese Association for Improving Birth Outcome and Child Development, Child Growing Up and Special Food Professional Committee, Chinese Medical Doctor Association Adolescent Health and Medical Professional Committee

Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2025 Dec 02; Vol. 63 (12), pp. 1293-1298.

Publication Type: Journal Article; Review

Journal Info: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

MeSH Terms: Genetic Counseling* , Genetic Testing* , Disorders of Sex Development*/genetics , Disorders of Sex Development*/diagnosis , Disorders of Sex Development*/therapy, Humans ; Consensus ; Child ; Male ; Practice Guidelines as Topic ; Female ; Quality of Life

Identification of a novel variant in MYRF gene in a patient with 46, XX disorders of sex development.

Authors: Ding L; National Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China., Tian Q; National Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.; Center for Rare Diseases Research, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.

Source: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology [Gynecol Endocrinol] 2025 Dec; Vol. 41 (1), pp. 2546985. Date of Electronic Publication: 2025 Sep 10.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8807913 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-0766 (Electronic) Linking ISSN: 09513590 NLM ISO Abbreviation: Gynecol Endocrinol Subsets: MEDLINE

MeSH Terms: 46, XX Disorders of Sex Development*/genetics , Membrane Proteins*/genetics, Humans ; Female ; Adolescent ; Mutation ; Phenotype ; Urogenital Abnormalities/genetics

Germ cell and other tumors in individuals with differences in sex development.

Authors: Witchel SF; Division of Pediatric Endocrinology, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Reyes-Múgica M; Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA.

Source: CA: a cancer journal for clinicians [CA Cancer J Clin] 2025 Nov-Dec; Vol. 75 (6), pp. 587-601. Date of Electronic Publication: 2025 May 23.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 0370647 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1542-4863 (Electronic) Linking ISSN: 00079235 NLM ISO Abbreviation: CA Cancer J Clin Subsets: MEDLINE

MeSH Terms: Neoplasms, Germ Cell and Embryonal*/diagnosis , Neoplasms, Germ Cell and Embryonal*/etiology , Neoplasms, Germ Cell and Embryonal*/epidemiology , Neoplasms, Germ Cell and Embryonal*/therapy , Disorders of Sex Development*/complications , Disorders of Sex Development*/diagnosis, Humans ; Male ; Female ; Adolescent ; Child ; Infant

Vaginal agenesis in MRKH syndrome: integrating surgical technique with long-term psychosexual support .

Authors: Gattani P; Obstetrics and Gynaecology, DMMC, Nagpur, Maharashtra, India., Heda S; Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences-Rishikesh, Rishikesh, Uttarakhand, India sakshigattani96@gmail.com., Parate S; Obstetrics and Gynaecology, DMMC, Nagpur, Maharashtra, India., Jahagirdar S; Department of Surgery, DMMC, Nagpur, Maharashtra, India.

Source: BMJ case reports [BMJ Case Rep] 2025 Oct 31; Vol. 18 (10). Date of Electronic Publication: 2025 Oct 31.

Publication Type: Journal Article; Case Reports

Journal Info: 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

MeSH Terms: 46, XX Disorders of Sex Development*/surgery , 46, XX Disorders of Sex Development*/psychology , 46, XX Disorders of Sex Development*/diagnosis , Vagina*/abnormalities , Vagina*/surgery , Mullerian Ducts*/abnormalities , Mullerian Ducts*/surgery , Congenital Abnormalities*/surgery , Congenital Abnormalities*/psychology , Congenital Abnormalities*/diagnosis , Plastic Surgery Procedures*/methods, Humans ; Female ; Adult ; Self Concept ; Amenorrhea/etiology

SCR Disease Name: Mullerian aplasia; Vagina, absence of

Condylomata acuminata in the neovagina and vulva with HPV6/18 infection in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome after sheares' vaginoplasty: a case report and systematic review.

Authors: You S; Department of Gynecology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200433, China.; Shanghai Key Lab of Reproduction and Development, Shanghai, 200433, China.; Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, Shanghai, 200433, China., Zhang H; Department of Gynecology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200433, China.; Shanghai Key Lab of Reproduction and Development, Shanghai, 200433, China.; Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, Shanghai, 200433, China., Tang X; Department of Gynecology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200433, China.; Shanghai Key Lab of Reproduction and Development, Shanghai, 200433, China.; Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, Shanghai, 200433, China., Cheng LC; Department of Gynecology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200433, China.; Shanghai Key Lab of Reproduction and Development, Shanghai, 200433, China.; Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, Shanghai, 200433, China., Qiu J; Department of Gynecology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200433, China. qiujunjun1113@163.com.; Shanghai Key Lab of Reproduction and Development, Shanghai, 200433, China. qiujunjun1113@163.com.; Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, Shanghai, 200433, China. qiujunjun1113@163.com., Hua K; Department of Gynecology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200433, China. huakeqin@fudan.edu.cn.; Shanghai Key Lab of Reproduction and Development, Shanghai, 200433, China. huakeqin@fudan.edu.cn.; Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, Shanghai, 200433, China. huakeqin@fudan.edu.cn.

Source: BMC women's health [BMC Womens Health] 2025 Oct 29; Vol. 25 (1), pp. 523. Date of Electronic Publication: 2025 Oct 29.

Publication Type: Journal Article; Case Reports; Systematic Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101088690 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6874 (Electronic) Linking ISSN: 14726874 NLM ISO Abbreviation: BMC Womens Health Subsets: MEDLINE

MeSH Terms: Condylomata Acuminata*/virology , Condylomata Acuminata*/surgery , Condylomata Acuminata*/pathology , 46, XX Disorders of Sex Development*/surgery , 46, XX Disorders of Sex Development*/complications , Mullerian Ducts*/abnormalities , Mullerian Ducts*/surgery , Vagina*/surgery , Vagina*/abnormalities , Congenital Abnormalities*/surgery , Papillomavirus Infections*/complications, Humans ; Female ; Young Adult ; Vulva/pathology ; Vulva/virology ; Vulva/surgery ; Human papillomavirus 6/isolation & purification ; Human papillomavirus 18/isolation & purification

SCR Disease Name: Mullerian aplasia

Mayer-Rokitansky-Küster-Hauser Syndrome: Where Does Gynaecological Pathology End and Renal Disease Begin? The Value of a Comprehensive View. Two Case Reports with Adult Onset Kidney Disease and A Review of the Literature.

Authors: Catania M; Vita Salute San Raffaele University, 20132 Milan, Italy., Petrone M; O.U. Obstetric and Gynecology, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Tunesi F; Vita Salute San Raffaele University, 20132 Milan, Italy., Joli G; Vita Salute San Raffaele University, 20132 Milan, Italy., Bucci R; Vita Salute San Raffaele University, 20132 Milan, Italy., Rivera R; O.U. Nephrology and Dialysis, Ospedale Pio XI, ASST Brianza., De Rosa LI; Vita Salute San Raffaele University, 20132 Milan, Italy., Kola K; Vita Salute San Raffaele University, 20132 Milan, Italy., Vespa M; Vita Salute San Raffaele University, 20132 Milan, Italy., Grecchi G; O.U. Obstetric and Gynecology, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Salvatore S; O.U. Obstetric and Gynecology, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Candiani M; O.U. Obstetric and Gynecology, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Manunta P; Vita Salute San Raffaele University, 20132 Milan, Italy., Vezzoli G; Vita Salute San Raffaele University, 20132 Milan, Italy., Sciarrone Alibrandi MT; Vita Salute San Raffaele University, 20132 Milan, Italy.

Source: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia [G Ital Nefrol] 2025 Oct 24; Vol. 42 (5). Date of Electronic Publication: 2025 Oct 24.

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: Società Italiana di Nefrologia Country of Publication: Italy NLM ID: 9426434 Publication Model: Electronic Cited Medium: Internet ISSN: 1724-5990 (Electronic) Linking ISSN: 03935590 NLM ISO Abbreviation: G Ital Nefrol Subsets: MEDLINE

MeSH Terms: 46, XX Disorders of Sex Development*/complications , 46, XX Disorders of Sex Development*/diagnosis , 46, XX Disorders of Sex Development*/pathology , Mullerian Ducts*/abnormalities , Congenital Abnormalities*/diagnosis , Congenital Abnormalities*/pathology , Kidney*/abnormalities , Kidney Failure, Chronic*/etiology , Kidney Diseases*/etiology, Humans ; Female ; Adult ; Adolescent

SCR Disease Name: Mullerian aplasia

Approach to the Patient With a Difference of Sexual Development.

Authors: Syryn H; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., De Baere E; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Cools M; Department of Internal Medicine and Pediatrics, Ghent University, 9000 Ghent, Belgium.; Division of Pediatric Endocrinology, Department of Pediatrics, Ghent University Hospital, Ghent 9000, Belgium.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2025 Oct 16; Vol. 110 (11), pp. 3264-3277.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

MeSH Terms: Disorders of Sex Development*/therapy , Disorders of Sex Development*/diagnosis , Disorders of Sex Development*/psychology , Disorders of Sex Development*/genetics, Female ; Humans ; Male ; Pregnancy ; Adolescent

Rare X;13 translocation with NR0B1 duplication in partial gonadal dysgenesis: A novel karyotype in DSD cases.

Authors: Kiraz A; Faculty of Medicine, Department of Medical Genetics, Erciyes University, Kayseri, Türkiye., Mammadova N; Faculty of Medicine, Department of Medical Genetics, Erciyes University, Kayseri, Türkiye., Balta B; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Türkiye., Demirci E; Faculty of Medicine, Department of Child and Adolescent Psychiatry, Erciyes University, Kayseri, Türkiye., Demirci D; Faculty of Medicine, Department of Pediatric Urology, Erciyes University, Kayseri, Türkiye., Karadağ A; Faculty of Medicine, Department of Pediatric Endocrinology, Erciyes University, Kayseri, Türkiye., Hatipoğlu N; Faculty of Medicine, Department of Medical Genetics, Erciyes University, Kayseri, Türkiye. nihalhatipoglu@yahoo.com.; Faculty of Medicine, Department of Pediatric Endocrinology, Erciyes University, Kayseri, Türkiye. nihalhatipoglu@yahoo.com., Dündar M; Faculty of Medicine, Department of Medical Genetics, Erciyes University, Kayseri, Türkiye.

Source: Molecular biology reports [Mol Biol Rep] 2025 Oct 06; Vol. 52 (1), pp. 986. Date of Electronic Publication: 2025 Oct 06.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

MeSH Terms: DAX-1 Orphan Nuclear Receptor*/genetics , Gonadal Dysgenesis*/genetics , Disorders of Sex Development*/genetics , Translocation, Genetic*/genetics, Humans ; Female ; Gene Duplication ; Infant ; Chromosomes, Human, X/genetics ; Male ; Karyotype ; Karyotyping

Differences in sex development: Taking inventory of function and anatomy to empower self care.

Authors: Heller K; Division of Pediatric Surgery, Phoenix Children's Hospital, Phoenix, AZ 85048, USA., Brierley S; Division of Pediatric Surgery, Phoenix Children's Hospital, Phoenix, AZ 85048, USA., Foreman N; University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Weidler EM; Division of Pediatric Surgery, Phoenix Children's Hospital, Phoenix, AZ 85048, USA., van Leeuwen K; Division of Pediatric Surgery, Phoenix Children's Hospital, Phoenix, AZ 85048, USA. Electronic address: kvan@phoenixchildrens.com.

Source: Seminars in pediatric surgery [Semin Pediatr Surg] 2025 Oct; Vol. 37, pp. 151537. Date of Electronic Publication: 2025 Sep 08.

Publication Type: Journal Article; Review

Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 9216162 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-9453 (Electronic) Linking ISSN: 10558586 NLM ISO Abbreviation: Semin Pediatr Surg Subsets: MEDLINE

MeSH Terms: Disorders of Sex Development*/therapy , Disorders of Sex Development*/diagnosis , Disorders of Sex Development*/psychology , Disorders of Sex Development*/physiopathology , Self Care*, Humans ; Female ; Male ; Child

Human Sexual Polymorphism and Predicted Ranges of Morphological Variation in Human Skeletal Sex Indicators.

Authors: Astorino CM; Anthropology Department, CUNY Graduate Center, New York, New York, USA.; New York Consortium in Evolutionary Primatology (NYCEP), New York, New York, USA.

Source: American journal of biological anthropology [Am J Biol Anthropol] 2025 Oct; Vol. 188 (2), pp. e70135.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Inc Country of Publication: United States NLM ID: 101770171 Publication Model: Print Cited Medium: Internet ISSN: 2692-7691 (Electronic) Linking ISSN: 26927691 NLM ISO Abbreviation: Am J Biol Anthropol Subsets: MEDLINE

MeSH Terms: Sex Characteristics* , Disorders of Sex Development*/pathology , Disorders of Sex Development*/genetics , Bone and Bones*/anatomy & histology, Humans ; Male ; Female

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.

Authors: Yavas Abalı Z; Department of Pediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Istanbul, Türkiye., Guran T; Department of Pediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Istanbul, Türkiye.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 May 15; Vol. 15, pp. 1354759. Date of Electronic Publication: 2024 May 15 (Print Publication: 2024).

Publication Type: Journal Article; Review

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

MeSH Terms: Adrenal Hyperplasia, Congenital*/genetics , Adrenal Hyperplasia, Congenital*/diagnosis , Adrenal Hyperplasia, Congenital*/therapy , 46, XX Disorders of Sex Development*/genetics , 46, XX Disorders of Sex Development*/diagnosis, Humans ; Female ; Male ; Disorders of Sex Development/genetics ; Disorders of Sex Development/diagnosis

SCR Disease Name: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

A simultaneous hermaphrodite dwarf common carp (Cyprinus carpio carpio morpha hungaricus) from a natural thermal lake, Lake Hévíz, Hungary.

Authors: Lefler KK; Department of Aquaculture, Institute of Aquaculture and Environmental Safety, Hungarian University of Agricultural and Life Sciences, 2100, Gödöllő, Hungary., Varga Á; Department of Freshwater Fish Ecology, Institute of Aquaculture and Environmental Safety, Hungarian University of Agricultural and Life Sciences, 2100, Gödöllő, Hungary., Specziár A; HUN-REN Balaton Limnological Research Institute, 8237, Tihany, Hungary., Horváth J; Department of Freshwater Fish Ecology, Institute of Aquaculture and Environmental Safety, Hungarian University of Agricultural and Life Sciences, 2100, Gödöllő, Hungary., Tóth A; Department of Freshwater Fish Ecology, Institute of Aquaculture and Environmental Safety, Hungarian University of Agricultural and Life Sciences, 2100, Gödöllő, Hungary., Urbányi B; Department of Aquaculture, Institute of Aquaculture and Environmental Safety, Hungarian University of Agricultural and Life Sciences, 2100, Gödöllő, Hungary., Kaszab E; Department of Environmental Safety, Institute of Aquaculture and Environmental Safety, Hungarian University of Agricultural and Life Sciences, 2100, Gödöllő, Hungary., Quyến NN; Faculty of Fisheries, Nong Lam University, Block 33, Linh Xuan Ward, Thủ Đức City, Ho Chi Minh City, Vietnam., Matsubara H; Noto Center for Fisheries Science and Technology, Kanazawa University, 11-4-1 Ossaka, Noto-Cho, Ishikawa, 927-0552, Japan., Müller T; Department of Freshwater Fish Ecology, Institute of Aquaculture and Environmental Safety, Hungarian University of Agricultural and Life Sciences, 2100, Gödöllő, Hungary. muller.tamas@uni-mate.hu.

Source: Biologia futura [Biol Futur] 2025 Dec; Vol. 76 (4), pp. 535-540. Date of Electronic Publication: 2025 Aug 12.

Publication Type: Journal Article

Journal Info: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101738236 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2676-8607 (Electronic) Linking ISSN: 26768607 NLM ISO Abbreviation: Biol Futur Subsets: MEDLINE

MeSH Terms: Carps*/physiology , Lakes* , Disorders of Sex Development*/veterinary, Animals ; Hungary ; Female ; Male

The relationship between sexual dimorphism and intersex correlation: do models support intuition?

Authors: Puixeu G; Institute of Science and Technology Austria, Klosterneuburg 3400, Austria., Hayward LK; Institute of Science and Technology Austria, Klosterneuburg 3400, Austria.

Source: Genetics [Genetics] 2025 Nov 12; Vol. 231 (3).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

MeSH Terms: Sex Characteristics* , Models, Genetic* , Disorders of Sex Development*/genetics, Female ; Male ; Selection, Genetic ; Humans ; Genetic Drift ; Animals ; Mutation ; Sexual Selection

Validation of a parent-reported outcome measure for young boys with a condition affecting sex development (PRO-CSD).

Authors: Tseretopoulou X; Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK.; Office for Rare Conditions, University of Glasgow, Glasgow, UK., Ali SR; Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK.; Office for Rare Conditions, University of Glasgow, Glasgow, UK., Gardner M; Susan B.Meister Child Health Evaluation and Research (CHEAR) Center, Department of Pediatrics, University of Michigan Medical School, Michigan, Michigan, USA., Flett M; Department of Paediatric Surgery and Urology, Royal Hospital for Children, Glasgow, UK., Lee B; Department of Paediatric Surgery and Urology, Royal Hospital for Children, Glasgow, UK., O'Toole S; Department of Paediatric Surgery and Urology, Royal Hospital for Children, Glasgow, UK., Steven M; Department of Paediatric Surgery and Urology, Royal Hospital for Children, Glasgow, UK., Sandberg DE; Susan B.Meister Child Health Evaluation and Research (CHEAR) Center, Department of Pediatrics, University of Michigan Medical School, Michigan, Michigan, USA., Ahmed SF; Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK faisal.ahmed@glasgow.ac.uk.; Office for Rare Conditions, University of Glasgow, Glasgow, UK.

Source: Archives of disease in childhood [Arch Dis Child] 2025 Oct 17; Vol. 110 (11), pp. 892-898. Date of Electronic Publication: 2025 Oct 17.

Publication Type: Journal Article; Validation Study

Journal Info: Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE

MeSH Terms: Parents*/psychology , Disorders of Sex Development*/psychology, Humans ; Male ; Cross-Sectional Studies ; Child, Preschool ; Reproducibility of Results ; Surveys and Questionnaires/standards ; Self Report ; Child ; Psychometrics ; Infant ; Quality of Life

Delayed gonadal development of estrogen-induced ZZ females in Chinese soft-shelled turtles†.

Authors: Huang A; College of Fisheries and Life Sciences, Shanghai Ocean University, No. 999, Huchenghuan Rd, Nanhui New City, Shanghai 201306, China., Tang J; College of Fisheries and Life Sciences, Shanghai Ocean University, No. 999, Huchenghuan Rd, Nanhui New City, Shanghai 201306, China., Wang J; Institute of Animal Sex and Development, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China.; College of Biological and Environmental Sciences, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China., Chen Q; Institute of Animal Sex and Development, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China.; College of Biological and Environmental Sciences, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China., Sun W; Institute of Animal Sex and Development, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China.; College of Biological and Environmental Sciences, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China., Xiao L; Institute of Animal Sex and Development, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China.; College of Biological and Environmental Sciences, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China., Qian G; College of Biological and Environmental Sciences, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China., Guo Y; Institute of Animal Sex and Development, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China.; College of Biological and Environmental Sciences, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China., Ge C; Institute of Animal Sex and Development, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China.; College of Biological and Environmental Sciences, Zhejiang Wanli University, No. 8, Qianhu South Road, Yinzhou District, Ningbo 315100, China.

Source: Biology of reproduction [Biol Reprod] 2025 Oct 14; Vol. 113 (4), pp. 811-819.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0207224 Publication Model: Print Cited Medium: Internet ISSN: 1529-7268 (Electronic) Linking ISSN: 00063363 NLM ISO Abbreviation: Biol Reprod Subsets: MEDLINE

MeSH Terms: Turtles*/physiology , Estrogens*/pharmacology , Ovary*/drug effects , Ovary*/growth & development , Estradiol*/pharmacology , Gonads*/growth & development , Gonads*/drug effects , Disorders of Sex Development*/chemically induced, Animals ; Female ; Male ; SOX9 Transcription Factor/genetics ; SOX9 Transcription Factor/metabolism ; Gene Expression Regulation, Developmental/drug effects ; Aromatase/metabolism ; Aromatase/genetics ; Sex Determination Processes/drug effects

What is the access to NHS fertility treatments for women with Mayer-Rokitansky-Küster-Hauser syndrome across England? A freedom of information study.

Authors: Milford K; Department of Gynaecology, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Melo P; University of Oxford Nuffield Department of Women's and Reproductive Health, Oxford, UK., Suleman M; University of Oxford Nuffield Department of Population Health, Oxford, UK., Crouch N; Department of Gynaecology, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Mair I; Royal Navy, London, UK., Armstrong SC; Department of Gynaecology, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK sarah.armstrong@uhbw.nhs.uk.

Source: BMJ open [BMJ Open] 2025 Oct 09; Vol. 15 (10), pp. e102664. Date of Electronic Publication: 2025 Oct 09.

Publication Type: Journal Article

Journal Info: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

MeSH Terms: 46, XX Disorders of Sex Development*/therapy , Fertilization in Vitro*/economics , Fertilization in Vitro*/ethics , Congenital Abnormalities*/therapy , State Medicine*/economics , Mullerian Ducts*/abnormalities , Health Services Accessibility*/ethics , Infertility, Female*/therapy , Infertility, Female*/etiology, Humans ; Female ; England

SCR Disease Name: Mullerian aplasia

First case of parthenogenesis in an intersexual zebra shark (Stegostoma tigrinum) having incomplete claspers.

Authors: Momota K; Osaka Aquarium NIFREL, Osaka, Japan.; Osaka Aquarium KAIYUKAN, Osaka, Japan., Kiyatake I; Osaka Aquarium KAIYUKAN, Osaka, Japan., Izawa T; Laboratory of Veterinary Pathology, Osaka Metropolitan University, Osaka, Japan., Aihara H; Biotechnological Research Support Division, FASMAC Co., Ltd., Atsugi, Japan., Kuraku S; Molecular Life History Laboratory, Department of Genomics and Evolutionary Biology, National Institute of Genetics, Mishima, Japan., Nishida K; Osaka Aquarium KAIYUKAN, Osaka, Japan.

Source: Journal of fish biology [J Fish Biol] 2025 Oct; Vol. 107 (4), pp. 1248-1255. Date of Electronic Publication: 2025 Jun 18.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0214055 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-8649 (Electronic) Linking ISSN: 00221112 NLM ISO Abbreviation: J Fish Biol Subsets: MEDLINE

MeSH Terms: Parthenogenesis* , Sharks*/physiology , Sharks*/genetics , Disorders of Sex Development*/veterinary, Animals ; Female ; Male ; Microsatellite Repeats

Stenosis of Sigmoid Neovagina with Subsequent Pelvic Infection and Surgical Excision.

Authors: King T; Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia. Electronic address: Taking3@emory.edu., Abam C; Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia., Trautner E; Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia., Trieu E; Division of Minimally Invasive Gynecologic Surgery, Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia., Ramirez-Caban L; Division of Minimally Invasive Gynecologic Surgery, Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia.

Source: Journal of pediatric and adolescent gynecology [J Pediatr Adolesc Gynecol] 2025 Oct; Vol. 38 (5), pp. 640-643. Date of Electronic Publication: 2025 Apr 30.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 9610774 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4332 (Electronic) Linking ISSN: 10833188 NLM ISO Abbreviation: J Pediatr Adolesc Gynecol Subsets: MEDLINE

MeSH Terms: Vagina*/surgery , Vagina*/abnormalities , Mullerian Ducts*/abnormalities , Mullerian Ducts*/surgery , 46, XX Disorders of Sex Development*/surgery , Congenital Abnormalities*/surgery , Colon, Sigmoid*/surgery , Pelvic Infection*/etiology , Pelvic Infection*/surgery , Plastic Surgery Procedures*/adverse effects , Postoperative Complications*/surgery , Surgically-Created Structures*, Humans ; Female ; Adult ; Constriction, Pathologic/surgery

SCR Disease Name: Mullerian aplasia