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    Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson-Golabi-Behmel Syndrome: Expansion of the Clinical Spectrum.
    Pediatr Dev Pathol 2018 Jan 1:1093526618770327. Epub 2018 Jan 1.
    1 Department of Pathology, Women and Infants Hospital, Providence, Rhode Island.
    Simpson-Golabi-Behmel syndrome type I (SGBS, OMIM312870), caused by defects of the GPC3 and GPC4 genes on chromosome Xq26, is an X-linked recessive macrosomia/multiple congenital anomaly disorder characterized by somatic overgrowth, coarse facial features, variable congenital anomalies, increased tumor risk, and mild-to-moderate neurodevelopmental anomalies. We report the postmortem findings in 3 second-trimester male siblings with SGBS who displayed ambiguous genitalia (in all 3) and gonadal dysgenesis (ovotestis) (in 1), thus expanding the SGBS spectrum to include these disorders of sex development. Read More

    Identification of ectopic ovotestis in a dog with XX ovotesticular, SRY-negative, disorder of sexual development.
    Reprod Domest Anim 2018 Mar 24. Epub 2018 Mar 24.
    Department of Population Medicine, Ontario Veterinary College, University of Guelph, Guelph, ON, Canada.
    A 1-year-old, previously spayed phenotypic female Poodle/Soft-coated Wheaten Terrier (Whoodle) cross was presented for a suspected ovarian remnant. Serum luteinizing hormone (LH) concentration was below the detection limit (<1 ng/ml Witness LH), and serum progesterone concentration was elevated in the chemiluminescence immunoassay (CLIA; 20 ng/ml), consistent with dioestrus and presence of ovarian tissue. Transabdominal ultrasound revealed a retroperitoneal soft tissue structure suspected to be a gonad. Read More

    A case report of ovotesticular disorder of sex development (OT-DSD) in a baboon (Papio spp.) and a brief review of the non-human primate literature.
    J Med Primatol 2018 Mar 5. Epub 2018 Mar 5.
    Southwest National Primate Research Center, Texas Biomedical Research Institute, San Antonio, TX, USA.
    Disorders of sexual development are rare in non-human primates. We report a case of true hermaphroditism in a 19-year-old, nulliparous, female baboon (Papio spp.). Read More

    Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
    Am J Hum Genet 2018 Mar 22;102(3):487-493. Epub 2018 Feb 22.
    Human Developmental Genetics, Institut Pasteur, Paris 75724, France. Electronic address:
    Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while actively repressing the other. However, in contrast to testis formation, the gene regulatory pathways governing mammalian ovary development have remained elusive. We performed exome or Sanger sequencing on 79 46,XX SRY-negative individuals with either unexplained virilization or with testicular/ovotesticular disorders/differences of sex development (TDSD/OTDSD). Read More

    CRISPR/Cas9-mediated mosaic mutation of gene induces hermaphroditism in rabbits.
    Biosci Rep 2018 Apr 21;38(2). Epub 2018 Mar 21.
    Jilin Provincial Key Laboratory of Animal Embryo Engineering, Jilin University, Changchun 130062, China
    Hermaphroditism is a rare disorder that affects sexual development, resulting in individuals with both male and female sexual organs. Hermaphroditism is caused by anomalies in genes regulating sex determination, gonad development, or expression of hormones and their receptors during embryonic development during sexual differentiation. is a sex-determination gene on the Y chromosome that is responsible for initiating male sex determination in mammals. Read More

    Disorders of sex development: a study of 194 cases.
    Endocr Connect 2018 Feb 31;7(2):364-371. Epub 2018 Jan 31.
    Department of EndocrinologyPostgraduate Institute of Medical Education & Research, Chandigarh, India
    Objective: To study the clinical profile and the management of patients with disorders of sex development (DSD).

    Design And Setting: Retrospective study from a tertiary care hospital of North India.

    Methods And Patients: One hundred ninety-four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were included. Read More

    Chronic Exposure to Water of Lake Qaroun Induced Metal-Related Testicular Damage and Endocrine Disruption in Male Fish.
    Biol Trace Elem Res 2017 Dec 18. Epub 2017 Dec 18.
    Department of Zoology, Faculty of Science, Cairo University, Giza, Egypt.
    The uncontrolled releasing of hazardous wastes into Lake Qaroun was adversely impacting the aquatic environment and its biota. Therefore, this approach was designed to investigate the impact of these discharges on the reproductive and testicular function of Oreochromis niloticus. Several biomarkers were applied on the testicular tissues as metal bioaccumulation levels, histological examination with recording the ovotestis appearance and antioxidant status after 45 days of exposure to 0, 10, 20, & 30% of Lake Qaroun water (LQW). Read More

    Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.
    Fetal Pediatr Pathol 2017 Dec 8;36(6):445-451. Epub 2017 Dec 8.
    a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.
    Introduction: Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome.

    Case Report: Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD. Read More

    A Unique Case of Testicular Compromise in a Patient with Ovotesticular Disorder of Sexual Development and a Solitary Testicle.
    Case Rep Urol 2017 8;2017:8527071. Epub 2017 Oct 8.
    N.E.O. Urology Associates, Youngstown, OH, USA.
    Ovotesticular disorder of sexual development (OT-DSD), previously true hermaphroditism, is a condition in which one or both gonads contain testicular and ovarian tissue. A 23-year-old OT-DSD male patient presented with continuous pain in his right testicle which had been previously intermittent over the past five days. The patient had a prior history of left ovotestis removal with prosthesis placement, a right undescended testicle with aberrant anatomy, and hypospadias repair, all of which were corrected shortly after birth. Read More

    Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.
    Sex Dev 2018 20;12(1-3):145-154. Epub 2017 Sep 20.
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
    We report on an adult male initially presenting with gynecomastia and a painless scrotal mass without additional genital anomalies. Hyperpigmentation of the skin following the Blaschko's lines was identified. He underwent gonadectomy because of suspected cancer. Read More

    17β-Estradiol modulates cell proliferation of medullary cords during ovarian differentiation of the Lepidochelys olivacea sea turtle.
    Dev Biol 2017 11 8;431(2):263-271. Epub 2017 Sep 8.
    Departamento de Biología Celular y Fisiología, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Ciudad de México, Mexico. Electronic address:
    In turtles undergoing temperature sex determination (TSD), bipotential gonads express Sox9 in medullary cords at both female- (FPT) and male-producing temperatures (MPT). Subsequently, when the sex fate of medullary cords becomes dimorphic, at FPT, Sox9 is downregulated, whereas at MPT, its expression is maintained. Medullary cords in the ovary turn into ovarian lacuna, whereas in the testis they differentiate as seminiferous cords. Read More

    Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population.
    BMC Endocr Disord 2017 Aug 18;17(1):52. Epub 2017 Aug 18.
    Klinik für Pädiatrie m.S. Pädiatrische Endokrinologie, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
    Background: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality.

    Methods/design: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Read More

    Effect of 11β-hydroxyandrostenedione on European whitefish Coregonus lavaretus (Linnaeus, 1758).
    Anim Reprod Sci 2017 Sep 25;184:187-195. Epub 2017 Jul 25.
    Faculty of Oceanography and Geography, Department of Marine Biology and Ecology, Institute of Oceanography, University of Gdansk, Poland.
    The goal of the present research was to evaluate the efficiency of 11β-hydroxyandrostenedione (OHA) applied in the diet to achieve sex reversal in the European whitefish (Coregonus lavaretus). At 32day post-hatching, fish were reared in four groups: fish fed with 10ppm of OHA (10 OHA), fish fed with 20ppm of OHA (20 OHA), fish fed without OHA (C) and fish fed without OHA and reared in the water from 20 OHA group (R). The experimental groups were conducted in separate recirculation systems and the first phase of the experiment lasted 63days. Read More

    45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue.
    J Pediatr Endocrinol Metab 2017 Aug;30(8):899-904
    .
    Background: The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity.

    Case Presentation: Patient 1 had a left streak gonad; the right one was considered an ovotestis. Read More

    Painful ovulation in a 46,XX SRY -ve adult male with duplication.
    Endocrinol Diabetes Metab Case Rep 2017 7;2017. Epub 2017 Jun 7.
    ANZAC Research Institute, University of Sydney, Sydney, New South WalesAustralia.
    46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of and in testicular development, including the role of upstream enhancer region duplication in female-to-male sex reversal. Read More

    Pragmatic approach to intersex, including genital ambiguity, in the newborn.
    Semin Perinatol 2017 Jun 20;41(4):244-251. Epub 2017 May 20.
    Division of Pediatric Endocrinology, Department of Pediatrics, Penn State College of Medicine, 905 West Governor Rd, Suite 300, Hershey, PA 17033-0850.
    The evaluation and management of a newborn with ambiguous genitalia must be undertaken as quickly as possible and with great sensitivity for the child's family. Where possible, a comprehensive team approach with a pediatric urologist, endocrinologist, geneticist, neonatologist, and child psychiatrist/psychologist should work closely with the family to establish the diagnosis and determine gender. Although the preferred gender assignment is not always clear, a thorough examination of endocrine function, karyotype, and potential for fertility should guide the determination. Read More

    Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.
    J Med Genet 2017 Oct 8;54(10):705-709. Epub 2017 May 8.
    Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
    Background: The XX male disorder of sex development (DSD) is a rare condition that is most commonly associated with the presence of the gene on one of the X chromosomes due to unequal crossing-over between sex chromosomes during spermatogenesis. However, in about 20% of the XX male individuals, is missing, although these persons have at least some testis differentiation. The genetic basis of genital ambiguity and the mechanisms triggering testis development in such patients remain unknown. Read More

    Ovotestis in Adolescence: 2 Case Reports.
    Urology 2017 Jul 13;105:171-174. Epub 2017 Apr 13.
    Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address:
    We present 2 patients found to have ovotesticular disorder of sexual development (otDSD) in late adolescence. Two 15-year-old phenotypically male patients presented to a large pediatric hospital with different complaints: 1 with concern for testicular rupture after a straddle injury; 1 with gynecomastia. Further workup, including imaging and laboratory 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 3;87(5):307-314. Epub 2017 Apr 3.
    Department of Paediatric Surgery, Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, Durban, South Africa.
    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

    Methylation Patterns of SOX3, SOX9, and WNT4 Genes in Gonads of Dogs with XX (SRY-Negative) Disorder of Sexual Development.
    Sex Dev 2017 1;11(2):86-93. Epub 2017 Apr 1.
    Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
    Ovotesticular or testicular disorder of sexual development in dogs with female karyotype and lack of SRY (XX DSD) is a common sexual anomaly diagnosed in numerous breeds. The molecular background, however, remains unclear, and epigenetic mechanisms, including DNA methylation, have not been studied. The aim of our study was comparative methylation analysis of CpG islands in promoters of candidate genes for XX DSD: SOX9, SOX3, and WNT4. 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 2018 Feb 28;31(4):542-547. Epub 2017 Feb 28.
    a Department of Urology, School of Medicine , Istanbul Medipol University , 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)
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    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.
    . To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. . Read More

    Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome.
    Dev Period Med 2016;20(3):178-180
    Dept of Paediatric Surgery, TNMC & BYL Nair Hospital, Mumbai Central, Mumbai, Maharashtra. India.
    Mixed gonadal dysgenesis is a rare disorder of sex development associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is characterized by a unilateral non-palpable (usually intra-abdominal) testis, a contralateral streak gonad and persistent mullerian structures. The clinical presentation can vary from a typical male to female phenotype including all degrees of cryptorchidism, labial fusion, clitoromegaly, epispadias and hypospadias. 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.
    To explore the clinical manifestations and molecular features of 46, XX male syndrome. 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. 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 08 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

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