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    Ovotestis in Adolescence: Two Case Reports.
    Urology 2017 Apr 13. Epub 2017 Apr 13.
    Children's Hospital of Philadelphia, Division of Urology, Philadelphia, PA. Electronic address:
    We present two patients found to have ovotesticular disorder of sexual differentiation (otDSD) in late adolescence. Two 15-year-old phenotypically male patients presented to a large pediatric hospital with different complaints: one with concern for testicular rupture after a straddle injury; the other with gynecomastia. Further work-up, including imaging and lab tests, was performed before surgical exploration. Read More

    The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience.
    Horm Res Paediatr 2017 Apr 3. Epub 2017 Apr 3.
    Objective: To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD).

    Study Design: This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD.

    Results: All subjects were South African; 97% (n = 62) were African and 92% (n = 59) were of Zulu ethnicity. Read More

    Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series.
    BMC Urol 2017 Mar 28;17(1):21. Epub 2017 Mar 28.
    Department of Pediatric Surgery of Children's Medical Center, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China.
    Background: The aim of this study is to review and present the clinical features and process of evaluation and treatment for OT-DSD in a single center in recent years in China.

    Methods: Sixteen patients with OT-DSD during the past 4 years underwent the evaluation and treatment in a single center. The clinical characteristics and outcomes of surgery were analyzed. Read More

    Estrogenic Effects in Feral Male Common Carp (Cyprinus carpio) from Laguna de Bay, Philippines.
    Bull Environ Contam Toxicol 2017 May 13;98(5):638-642. Epub 2017 Mar 13.
    Department of Veterinary Paraclinical Sciences, College of Veterinary Medicine, University of the Philippines Los Baños, Los Baños, 4031, Laguna, Philippines.
    This study was conducted to measure 17β-estradiol (E2) levels in Laguna de Bay, Philippines and to examine feral male common carp for evidence of exposure to estrogenic pollutants. Analysis of water samples revealed E2 concentrations of 630 and 550 ng/L from the east and west bay of the lake, respectively. Plasma vitellogenin (VTG) in captured fish ranged from 506 to 4083 ng/mL. Read More

    Potential autofertility in true hermaphrodites.
    J Matern Fetal Neonatal Med 2017 Feb 28:1-6. Epub 2017 Feb 28.
    a Department of Urology, School of Medicine , Istanbul , Turkey.
    This article examines the studies on the pregnancies of true hermaphrodites and self-fertilization in hermaphrodite mammals that have been published in the last 40 years. The number of hermaphrodite pregnants reported in the literature since 1975 was 14, the number of pregnancies was 26 and the number of healthy born babies was 20. All of the babies that were born were male. Read More

    The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)
    Horm Res Paediatr 2017 2;87(3):205-212. Epub 2017 Mar 2.
    Aims: To evaluate gonadal function in a newborn with suspected ovotesticular disorder of sex development (DSD).

    Methods: Gonadal function was evaluated at baseline and after gonadotropin-releasing hormone agonist (GnRHag) stimulation testing.

    Results: A full-term 46,XX neonate with genital ambiguity produced serum testosterone and anti-Müllerian hormone (AMH) levels appropriate for males within days, while serum estradiol remained prepubertal, both spontaneously and in response to GnRHag stimulation testing. Read More

    Comparative Morphology of the Penis and Clitoris in Four Species of Moles (Talpidae).
    J Exp Zool B Mol Dev Evol 2017 May 2;328(3):275-294. Epub 2017 Mar 2.
    Department of Urology, University of California San Francisco, San Francisco, California.
    The penile and clitoral anatomy of four species of Talpid moles (broad-footed, star-nosed, hairy-tailed, and Japanese shrew moles) were investigated to define penile and clitoral anatomy and to examine the relationship of the clitoral anatomy with the presence or absence of ovotestes. The ovotestis contains ovarian tissue and glandular tissue resembling fetal testicular tissue and can produce androgens. The ovotestis is present in star-nosed and hairy-tailed moles, but not in broad-footed and Japanese shrew moles. Read More

    Neuroendocrine carcinoma of the ovotestis: A case report and review of literatures.
    Int J Reprod Biomed (Yazd) 2016 Dec;14(12):783-786
    Department of Obstetrics and Gynecology, Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran.
    Background: Neuroendocine carcinoma of the gynecologic tract is rare and poses a significant clinical challenge because of tumor heterogeneity and lack of standardized guidelines for treatment. Ovotestis refers to the histology of a gonad that contains both ovarian follicles and testicular tubular elements. Ovotesticular disorder of sexual development occurs in fewer than 10% of all disorders of sexual development. Read More

    Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
    Birth Defects Res C Embryo Today 2016 12;108(4):309-320
    Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz-de-Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laboratório de Hormônios e Genética Molecular (LIM/42), Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brasil.
    Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). Read More

    408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.
    Int J Endocrinol 2016 28;2016:4963574. Epub 2016 Nov 28.
    Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Department of Pediatrics, FCM, UNICAMP, Campinas, SP, Brazil; Growth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, SP, Brazil.
    Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Read More

    Long-term 2007-2013 monitoring of reproductive disturbance in the dun sentinel Assiminea grayana with regard to polymeric materials pollution at the coast of Lower Saxony, North Sea, Germany.
    Environ Sci Pollut Res Int 2017 Feb 18;24(4):3352-3362. Epub 2016 Nov 18.
    LimnoMar, Bei der Neuen Münze 11, 22145, Hamburg, Germany.
    During biological effect monitoring studies of endocrine active compounds with the snail Assiminea grayana in 2007-2013, reproductive disorders including atresia, transformation of capsule/albumen glands into prostates in females and ovotestis, transformation of prostates to capsule/albumen glands, disruption of spermatogenesis, and calcification of tubules in males, were encountered in several years. The search of sources of endocrine active substances was first directed to antifouling biocides from paint particles and extended to leaching compounds from polymeric materials. In contrast to the reference sites, most of the observed disorders occurred at a station near harbors and dockyards polluted with residues from antifouling paints and polymeric materials. Read More

    Fertility in disorders of sex development: A review.
    J Pediatr Urol 2016 Dec 3;12(6):418-425. Epub 2016 Nov 3.
    Department of Urology (Surgery), Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
    Introduction: Disorders of sex development (DSD) are a heterogeneous group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts on internal and external genitalia,these conditions can affect fertility potentialto various degrees. In this review we discuss fertility issues including gonadalpreservation and reproductive outcomes based on specific DSD conditions. Read More

    A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.
    Horm Res Paediatr 2017 18;87(3):191-195. Epub 2016 Nov 18.
    Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
    Background: A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. Read More

    Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation.
    J Urol 2017 Mar 10;197(3 Pt 2):937-943. Epub 2016 Nov 10.
    Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
    Purpose: We sought to determine the presence of germ cells in the gonads of patients with disorders of sex development to establish whether preservation of germ cells for future fertility potential is possible. We hypothesized that germ cells are present but vary by age and diagnosis.

    Materials And Methods: We reviewed histology from patients with disorders of sex development who underwent gonadectomy/biopsy from 2002 to 2014 at a single institution for pathological classification of the gonad, composition of gonadal stroma and germ cell presence. Read More

    [Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome].
    Zhonghua Er Ke Za Zhi 2016 Nov;54(11):840-843
    Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China.
    Objective: To explore the clinical manifestations and molecular features of 46, XX male syndrome. Method: The clinical and molecular data of five 46, XX male syndrome cases treated in the Department of Pediatrics of Shanghai Ruijin Hospital form August 2010 to August 2014 were retrospectively analyzed. Result: The five patients were all sociopsychologically males and came to hospital respectively for short stature, ambiguous genitalia or gynecomastia. Read More

    Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis.
    Int J Pediatr Endocrinol 2016 28;2016:20. Epub 2016 Oct 28.
    Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina ; Departamento de Biología Celular, Histología, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.
    In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Read More

    Foxl3, a Target of miR-9, Stimulates Spermatogenesis in Spermatogonia During Natural Sex Change in Monopterus albus.
    Endocrinology 2016 Nov 1;157(11):4388-4399. Epub 2016 Sep 1.
    College of Fisheries (Y.G., D.L.), Huazhong Agricultural University, Wuhan 430070, China; College of Animal Science and Technology (Y.G., D.J., Q.H.), Yunnan Agricultural University, Kunming 650201, China; Freshwater Aquaculture Collaborative Innovation Center of Hubei Province (Y.G., D.L.), Wuhan 430070, China; Engineering Laboratory of Pond Aquaculture in Hubei Province (Y.G., D.L.), Wuhan 430070, China; Key Laboratory of Freshwater Animal Breeding (D.L.), Ministry of Agriculture, Wuhan 430070, China; Collaborative Innovation Center for Efficient and Health Production of Fisheries in Hunan Province (D.L.), Key Laboratory of Health Aquaculture and Product Processing in Dongting Lake Area of Hunan Province, Hunan University of Arts and Science, Changde 415000, China.
    Two foxl2 paralogs, foxl2 (also named foxl2a) and foxl3 (also named foxl2b), were considered as fish-specific duplicates. Both belong to the Forkhead box family of transcription factors, which play important roles in regulating reproduction involved in sexual differentiation and regulation of primordial germ cell and gonadal somatic cell development. We isolated the complete foxl3 cDNA from the rice field eel (Monopterus albus), which undergoes a natural female-to-male sex change via an intersex stage during its life cycle. Read More

    Recent findings on the genetics of disorders of sex development.
    Curr Opin Urol 2017 Jan;27(1):1-6
    Division of Endocrinology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
    Purpose Of Review: Disorders of sex development (DSD) are a diverse group of conditions affecting gonadal development, sexual differentiation, or chromosomal sex. In this review, we will discuss recent literature on the genetic causes of DSD, with a focus on novel genetic sequencing technologies, new phenotypes associated with known DSD genes, and increasing recognition of the role of genetic regulatory elements in DSD.

    Recent Findings: We performed a comprehensive search of PubMed through August 2016 to identify important peer-reviewed publications from 2015 to 2016 on the topic of DSD genetics. Read More

    A Threshold Dosage of Testosterone for Female-to-Male Sex Reversal in Rana rugosa Frogs.
    J Exp Zool A Ecol Genet Physiol 2016 Oct 28;325(8):532-538. Epub 2016 Sep 28.
    Department of Biology, Faculty of Education and Integrated Arts and Sciences, Waseda University, Shinjuku-ku, Tokyo, 162-8480, Japan.
    Androgens play a critical role in testicular differentiation in many species of vertebrates. While female-to-male sex reversal can be induced by testosterone (T) in some species of amphibians, the mechanism still remains largely unknown even at the histological level. In this study, we determined a threshold dosage of T to induce female-to-male sex reversal in the Japanese frog Rana (R. Read More

    A novel morphological approach to gonads in disorders of sex development.
    Mod Pathol 2016 Nov 29;29(11):1399-1414. Epub 2016 Jul 29.
    Service d'Anatomie Pathologique, Centre de Biologie et de Pathologie Est, Bron, France.
    Disorders of sex development are defined as congenital conditions with discordance between the phenotype, the genotype, the karyotype, and the hormonal profile. The disorders of sex development consensus classification established in 2005 are mainly based on chromosomal and biological data. However, histological anomalies are not considered. Read More

    Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre.
    J Pediatr Endocrinol Metab 2017 Jan;30(1):11-18
    Background: The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre.

    Methods: This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014.

    Results: A total of 416 children (15. Read More

    Histopathology of brown bullhead (Ameiurus nebulosus), smallmouth bass (Micropterus dolomieu), and yellow perch (Perca flavescens) in relation to polychlorinated biphenyl (PCB) contamination in the Hudson River.
    Sci Total Environ 2017 Jan 15;575:1325-1338. Epub 2016 Oct 15.
    Rutter Statistical Consulting, 2150 Cemetery Road, North East, PA 16428, USA.
    From the 1940s through 1977, at least 590,000kg of polychlorinated biphenyls (PCBs) were released into the Hudson River from General Electric manufacturing plants located in Hudson Falls and Fort Edward, New York. In 1984, the U.S. Read More

    The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development.
    Sex Dev 2016 21;10(4):185-190. Epub 2016 Sep 21.
    Molecular and Developmental Pathology Research Group, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
    Individuals with a 46,XX/46,XY karyotype are categorized as ovotesticular disorder of sexual development (ODSD) and have gonads with either an ovary on one side and a testis on the other side or a mixed ovotestis. To examine the distribution of 46,XX and 46,XY cells in gonads of 3 patients with ODSD, FISH for X and Y chromosomes and immunohistochemistry for SOX9 and FOXL2 were carried out. FISH analysis showed that XX signals were present in Sertoli cells in the seminiferous tubules, while cells containing Y signals were seen in epithelia of ovarian follicles. Read More

    Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.
    Hum Mutat 2017 Jan 21;38(1):39-42. Epub 2016 Sep 21.
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
    The role of monogenic mutations in the development of 46,XX testicular/ovotesticular disorders of sex development (DSD) remains speculative. Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. Here, we identified identical NR5A1 mutations in two unrelated Japanese patients with 46,XX testicular/ovotesticular DSD. Read More

    Gonado-histopathological changes, intersex and endocrine disruptor responses in relation to contaminant burden in Tilapia species from Ogun River, Nigeria.
    Chemosphere 2016 Dec 31;164:248-262. Epub 2016 Aug 31.
    Department of Biology, Norwegian University of Science and Technology (NTNU), Høgskoleringen 5, N-7491, Trondheim, Norway. Electronic address:
    In the present study, we investigated the occurrence of intersex condition, histopathological changes in the gonad and endocrine disruptor biomarker responses in Tilapia species (Tilaipia guineensis, Sarotherodon galileaus and Oreochromis niloticus) along the Ogun River, Nigeria. The study sites covered a length of 320 km and a total of 1074 tilapias were collected from three sampling sites (Abeokuta, Isheri and Ikorodu) with different degrees of anthropogenic contamination. Samples were also collected from an upstream putative control site (Igboho) along the Ogun River. Read More

    Stochastic anomaly of methylome but persistent SRY hypermethylation in disorder of sex development in canine somatic cell nuclear transfer.
    Sci Rep 2016 Aug 9;6:31088. Epub 2016 Aug 9.
    BGI-Shenzhen, Shenzhen, China.
    Somatic cell nuclear transfer (SCNT) provides an excellent model for studying epigenomic reprogramming during mammalian development. We mapped the whole genome and whole methylome for potential anomalies of mutations or epimutations in SCNT-generated dogs with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disorder of sex development (DSD). Whole genome sequencing revealed no potential genomic variations that could explain the pathogenesis of DSD. Read More

    NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
    Genet Med 2017 Apr 4;19(4):367-376. Epub 2016 Aug 4.
    Department of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital and Ghent University, Ghent, Belgium.
    Purpose: We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD).

    Methods: Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. Read More

    Functional Authentication of a Novel Gastropod Gonadotropin-Releasing Hormone Receptor Reveals Unusual Features and Evolutionary Insight.
    PLoS One 2016 28;11(7):e0160292. Epub 2016 Jul 28.
    Department of Integrative Physiology and Center for Neuroscience, University of Colorado, Boulder, Colorado, United States of America.
    A gonadotropin-releasing hormone (GnRH)-like molecule was previously identified in a gastropod, Aplysia californica, and named ap-GnRH. In this study, we cloned the full-length cDNA of a putative ap-GnRH receptor (ap-GnRHR) and functionally authenticated this receptor as a bona fide ap-GnRHR. This receptor contains two potential translation start sites, each accompanied by a Kozak sequence, suggesting the translation of a long and a short form of the receptor is possible. Read More

    Effects of anti-androgens cyproterone acetate, linuron, vinclozolin, and p,p'-DDE on the reproductive organs of the copepod Acartia tonsa.
    J Environ Sci Health A Tox Hazard Subst Environ Eng 2016 Nov 15;51(13):1111-20. Epub 2016 Jul 15.
    d Department of Environmental Engineering , Technical University of Denmark , Kgs. Lyngby , Denmark.
    The study was performed to detect the effects of anti-androgenic compounds on the reproduction. In this paper alterations observed in the marine calanoid copepod Acartia tonsa exposed to environmental concentrations of cyproterone acetate (CPA), linuron (LIN), vinclozolin (VIN), and 1,1-dichloro-2,2-bis(p-chlorophenyl)ethylene (p,p'-DDE) for 21 days covering a full life cycle are described. Histological alterations were studied with a focus on reproductive organs, gonad and accessory sexual glands. Read More

    Gonad morphology of Susan's dwarfgoby Eviota susanae.
    J Fish Biol 2016 Sep 8;89(3):1839-44. Epub 2016 Jun 8.
    University of Hawai'i Manoa, Biology Department, 2538 McCarthy Mall, Edmondson Hall 216, Honolulu, HI, 96822, U.S.A.
    The gonad morphology of a dwarfgoby Eviota susanae was described and compared with other species within the genus. Eviota susanae was found to have a persistent integrated ovotestis form of gonad in which both spermatogenic and oogenic tissue were found interspersed throughout the gonad. This is consistent with previously described species of Eviota, suggesting that gonad morphology is conserved across the genus. Read More

    Rediscovering hermaphroditism in Grammatidae with the description of the testicular gland in Brazilian Basslet Gramma brasiliensis.
    Braz J Biol 2016 Apr;76(3):743-9
    Department of Biology, University of Hawai'i at Manoa, Honolulu HI , USA, Department of Biology, University of Hawai'i at Manoa, Room EDM 416, 2538 McCarthy Mall, Edmondson Hall 216, Honolulu, HI 96822, USA.
    Many aspects of sex change in reef fishes have been studied, including behavior and social organization. However, gonad histology remains the most robust way to identify sexual patterns in fishes. Some uncommon tissues remain poorly described, such as the accessory gonadal structures found in species from the Gobiidae family, which are rare in other bony fishes. Read More

    Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development.
    J Clin Res Pediatr Endocrinol 2016 Sep 18;8(3):351-5. Epub 2016 Apr 18.
    Osmangazi University Faculty of Medicine, Departments of Pediatric Endocrinology, Eskişehir, Turkey, Phone: +90505 496 23 02 E-mail:
    Ovotesticular disorder of sexual development (DSD), formerly known as true hermaphroditism, is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side. The diagnosis of ovotesticular DSD is based solely on the presence of ovarian and testicular tissue in the gonad and not on the characteristics of the internal and external genitalia, even if ambiguous. Herein, we report two patients with ovotesticular DSD-one presenting with ambiguous genitalia on the third day after birth and the other with short stature and primary amenorrhea in adolescence. Read More

    Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects.
    Sex Dev 2016 8;10(1):1-11. Epub 2016 Apr 8.
    Centro de Investigaciones Endocrinolx00F3;gicas x2018;Dr. Cx00E9;sar Bergadx00E1;' (CEDIE), CONICET-FEI-Divisix00F3;n de Endocrinologx00ED;a, Hospital de Nix00F1;os Ricardo Gutix00E9;rrez, Buenos Aires, Argentina.
    Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known as 46,XX ovotesticular DSD. Testicular tissue differentiation may be due to the translocation of SRY to the X chromosome or an autosome. Read More

    Genetic Analyses Reveal Functions for MAP2K3 and MAP2K6 in Mouse Testis Determination.
    Biol Reprod 2016 May 23;94(5):103. Epub 2016 Mar 23.
    Mammalian Genetics Unit, Medical Research Council, Harwell, Oxfordshire, United Kingdom
    Testis determination in mammals is initiated by expression of SRY in somatic cells of the embryonic gonad. Genetic analyses in the mouse have revealed a requirement for mitogen-activated protein kinase (MAPK) signaling in testis determination: targeted loss of the kinases MAP3K4 and p38 MAPK causes complete XY embryonic gonadal sex reversal. These kinases occupy positions at the top and bottom level, respectively, in the canonical three-tier MAPK-signaling cascade: MAP3K, MAP2K, MAPK. Read More

    Structure and Function of the Reproductive System of Aplysia kurodai.
    Dev Reprod 2015 Dec;19(4):197-207
    Marine Science Institute, Jeju National University, Jeju 695-965, Korea.
    This study investigated structure and function of the reproductive system in Aplysia kurodai by means of anatomical, histological, and histochemical observation. Reproductive system of this species is consisted of ovotestis, small hermaphroditic duct, ampulla, accessory genital mass and large hermaphroditic duct. The ovotestis is composed of a large number of follicles, and both oocytes and spermatocytes matured in the same follicle. Read More

    Ambiguous genitalia: A rare case report.
    Indian J Pathol Microbiol 2016 Jan-Mar;59(1):72-4
    Department of Pathology, Vivekananda Polyclinic and Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
    Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development (DSD). A seven-year-old child with vagina and an elongated clitoris looking like a penile part of male external genitalia, presented in the Paediatric Surgery Department. Ultrasound of pelvis revealed a streak ovary on the right side and ovotestis on the left side. Read More

    A Genetic Map for the Only Self-Fertilizing Vertebrate.
    G3 (Bethesda) 2016 Apr 7;6(4):1095-106. Epub 2016 Apr 7.
    Graduate School of Fisheries Science and Environmental Studies, Nagasaki University, 852-8521, Japan
    The mangrove killifish Kryptolebias marmoratus, and its close relative Kryptolebias hermaphroditus, are the only vertebrate species known to reproduce by self-fertilization due to functional ovotestis development. To improve our understanding of their genomes, we constructed a genetic map. First, a single F1 fish was made by artificial fertilization between K. Read More

    A Simultaneous Genetic Screen for Zygotic and Sterile Mutants in a Hermaphroditic Vertebrate (Kryptolebias marmoratus).
    G3 (Bethesda) 2016 Apr 7;6(4):1107-19. Epub 2016 Apr 7.
    Department of Biology, Valdosta State University, Georgia 31698
    The mangrove killifish, Kryptolebias marmoratus, is unique among vertebrates due to its self-fertilizing mode of reproduction involving an ovotestis. As a result, it constitutes a simplistic and desirable vertebrate model for developmental genetics as it is easily maintained, reaches sexual maturity in about 100 days, and provides a manageable number of relatively clear embryos. After the establishment and characterization of an initial mutagenesis pilot screen using N-ethyl-N-nitrosourea, a three-generation genetic screen was performed to confirm zygotic mutant allele heritability and simultaneously score for homozygous recessive mutant sterile F2 fish. Read More

    Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype.
    Urol Case Rep 2016 Mar 8;5:13-6. Epub 2016 Jan 8.
    The James Buchanan Brady Urological Institute, Johns Hopkins University, 601 N. Caroline St., Baltimore, MD 21287, USA.
    Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development. This is likely due in part to the high prevalence of a normal 46,XX karyotype in these patients. However, disorders of sex development represent a broad phenotypic spectrum, and often patients cannot be neatly categorized with a single diagnosis. Read More

    Cloning and pattern of gsdf mRNA during gonadal development in the protogynous Epinephelus akaara.
    Anim Reprod Sci 2016 Feb 17;165:46-55. Epub 2015 Dec 17.
    State Key Laboratory of Marine Environmental Science, Xiamen University, Xiamen 361102, China; College of Ocean and Earth Sciences, Xiamen University, Xiamen 361102, China; Fujian Engineering Laboratory of Marine Bioproducts and Technology, Xiamen University, Xiamen 361102, China; Fujian Collaborative Innovation Center for Exploitation and Utilization of Marine Biological Resources, Xiamen 361102, China. Electronic address:
    Gonadal soma-derived factor (gsdf) is a teleost- and gonad-specific growth factor involved in early germ cell development. The red spotted grouper, Epinephelus akaara, as a protogynous hermaphrodite, provides a novel model for understanding the mechanisms of sex determination and differentiation in teleosts. In the present study, a 2307-bp long gsdf gene was cloned from E. Read More

    Cloning and transcriptional expression of a novel gene during sex inversion of the rice field eel (Monopterus albus).
    Springerplus 2015 1;4:745. Epub 2015 Dec 1.
    College of Fisheries and Life Sciences, Shanghai Ocean University, Shanghai, 201306 China.
    We performed annealing control primer (ACP)-based differential-display reverse transcription-polymerase chain reaction (DDRT-PCR) to isolate differentially expressed genes (DEGs) from the stage IV ovary and ovotestis of the rice field eel, Monopterus albus. Using 20 arbitrary ACP primers, 14 DEG expressed-sequence tags were identified and sequenced. The transcriptional expression of one DEG, G2, was significantly greater in the ovotestis than the stage IV ovary. Read More

    Management of a 3-year-old child with ambiguous genitalia.
    Urol Ann 2015 Oct-Dec;7(4):537-40
    Department of Surgery, Nalanda Medical College and Hospital, Patna, Bihar, India.
    True hermaphrodites have characteristics tissue both sex in the form of presence of vagina uterus, fallopian tubes and ovaries as in female and presence of testis seminiferous tubules but penis as in penoscrotal hypospadias and bifid scrotal sac confuses as well developed labia majora. Determination of sex as per parents view in our social set up. The case was provisionally diagnosed as intersex. Read More

    [Diagnosis and treatment of ovotesticular disorder of sex development: A report of 2 cases].
    Zhonghua Nan Ke Xue 2015 Oct;21(10):917-20
    Objective: To investigate the characteristics, diagnosis, and treatment of ovotesticular disorder of sex development (OT-DSD).

    Methods: We retrospectively analyzed 2 cases of OT-DSD treated in our hospital. The patients were 19 and 15 years old, respectively, and both received systematic physical examination and examinations of the karyotype, sex hormone, adrenocorticotropic hormone (ACTH), color Doppler ultrasonography, urethrocystoscopy, and human chorionic gonadotropin (HCG) test. Read More

    Molecular cloning and characterization of amh and dax1 genes and their expression during sex inversion in rice-field eel Monopterus albus.
    Sci Rep 2015 Nov 18;5:16667. Epub 2015 Nov 18.
    College of Fisheries, Huazhong Agricultural University, Wuhan 430070, China.
    The full-length cDNAs of amh and dax1 in the hermaphrodite, rice-field eel (Monopterus albus), were cloned and characterized in this study. Multiple sequence alignment revealed Dax1 was well conserved among vertebrates, whereas Amh had a low degree of similarity between different vertebrates. Their expression profiles in gonads during the course of sex inversion and tissues were investigated. Read More

    Fertility Issues in Disorders of Sex Development.
    Endocrinol Metab Clin North Am 2015 Dec 3;44(4):867-81. Epub 2015 Sep 3.
    CONICET - FEI - División de Endocrinología, Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), Hospital de Niños Ricardo Gutiérrez, Gallo 1330, Buenos Aires C1425EFD, Argentina; Departamento de Histología, Biología Celular, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, Paraguay 2155, Buenos Aires C1121ABG, Argentina. Electronic address:
    Fertility potential should be considered by the multidisciplinary team when addressing gender assignment, surgical management, and patient and family counselling of individuals with disorders of sex development. In 46,XY individuals, defects of gonadal differentiation or androgen or anti-Müllerian hormone synthesis or action result in incomplete or absent masculinization. In severe forms, raised as females, motherhood is possible with oocyte donation if Müllerian ducts have developed. Read More

    Human sex-determination and disorders of sex-development (DSD).
    Semin Cell Dev Biol 2015 Sep 23;45:77-83. Epub 2015 Oct 23.
    Human Developmental Genetics, Institut Pasteur, Paris, France. Electronic address:
    Several new genes and pathways have been identified in recent years associated with human errors of sex-determination or DSD. SOX family gene mutations, as well as mutations involving GATA4, FOG2 and genes involved in MAP kinase signaling have been associated with virilization in 46,XX individuals or with 46,XY gonadal dysgenesis. Furthermore, mutations involving another key gene in sex-determination, NR5A1, are now known to be an important cause spermatogenic failure in the male and ovarian insufficiency in the female. Read More

    Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).
    Sci Rep 2015 Oct 1;5:14696. Epub 2015 Oct 1.
    Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
    Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Read More

    Histopathological pattern of gonads in cases of sex abnormalities in dogs: An attempt of morphological evaluation involving potential for neoplasia.
    Pathol Res Pract 2015 Oct 17;211(10):772-5. Epub 2015 Jul 17.
    Department of Pathology, Faculty of Veterinary Medicine, Wroclaw University of Environmental and Life Sciences, Poland.
    Disturbances in sex differentiation (DSD - disorder of sexual development) may result from disturbances in sex chromosomes or a disturbed development of gonads, or from genotypic disturbances. The objective of this article is to describe the histological structure of gonads in dogs showing sexual disturbances and a case of a cancer resembling gonadoblastoma in one of the animals. Among the 10 examined dogs with disturbances of sex development only a single case of a gonadoblastoma was observed. Read More

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