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Case Rep Pathol 2021 29;2021:5552305. Epub 2021 Mar 29.

Dr. Senckenberg Institute of Pathology, University Hospital, Goethe University Frankfurt am Main, Frankfurt am Main, Germany.

Disorder of sex development (DSD) is a rare condition with atypical development of chromosomal, gonadal, or anatomical sex. It is classified in different subgroups based on the patient's karyotype, gonadal dysgenesis, and the appearance of the internal and external genitalia. Within the subgroups, the risk for developing neoplasms varies a lot. Read More

Cell Death Dis 2021 Apr 12;12(4):388. Epub 2021 Apr 12.

Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, Renmin Hospital of Wuhan University, Wuhan, China.

Infertile ovotestis (mixture of ovary and testis) often occurs in intersex individuals under certain pathological and physiological conditions. However, how ovotestis is formed remains largely unknown. Here, we report the first comprehensive single-cell developmental atlas of the model ovotestis. Read More

J Pediatr Adolesc Gynecol 2021 Mar 2. Epub 2021 Mar 2.

Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea; Institute of Women's Life Science, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:

Study Objective: To present clinical features that characterize ovotesticular disorder of sex development (OT-DSD) in the Korean population. Among the patient cohort who were initially suspected to have OT-DSD, the actual OT-DSD patients and those of other disorder of sex development were compared.

Design: Retrospective medical chart review of patients who were initially suspected to have OT-DSD from 1984 to 2018 on the basis of clinical examination. Read More

Sex Dev 2021 Mar 2:1-9. Epub 2021 Mar 2.

Interdisciplinary Group for the Study of Gender Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Brazil,

In this study, we present 3 cases of Down syndrome (DS) associated with disorders/differences of sex development (DSD) and review the literature on this topic. Case 1: 1-year-old child with male genitalia and DS phenotype, 47,XX,+21 karyotype and testicular DSD. Case 2: 11-month-old child with male genitalia and few DS dysmorphisms, 45,X/47,XY,+21 karyotype, and mixed gonadal dysgenesis. Read More

Ceska Gynekol 2020 ;85(4):259-262

Objective: Description of diagnosis of 45,X/46,XY ovotesticular DSD.

Design: Case report.

Setting: Department of Medical Genetics, KZ a. Read More

Cureus 2020 Dec 17;12(12):e12130. Epub 2020 Dec 17.

Obstetrics and Gynecology, Prathima Institute of Medical Sciences, Karimnagar, IND.

Ovotesticular disorder or true hermaphroditism is defined as the presence of both ovarian and testicular tissues in the same individual irrespective of the patient's karyotype. Ovotesticular disorder represents 5% of disorders of sex development. Cases of true hermaphroditism must be treated like men or women based on their age, external genitalia and the orientation of the patient. Read More

Am J Med Genet A 2021 04 5;185(4):1067-1075. Epub 2021 Jan 5.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

SOX9, a transcription factor, is expressed in the undifferentiated XX and XY gonads. SRY induces significant upregulation of SOX9 expression in XY gonads. Loss-of-function SOX9 variants cause testicular dysgenesis in 46,XY patients, while duplication of the total gene or the upstream regulatory region results in testicular development in 46,XX patients. Read More

J Comp Neurol 2021 Jun 27;529(9):2347-2361. Epub 2021 Jan 27.

Institute of Neurobiology and Department of Anatomy and Neurobiology, University of Puerto Rico, Medical Sciences Campus, San Juan, Puerto Rico.

Freshwater snails of the genus Biomphalaria serve as obligatory hosts for the digenetic trematode Schistosoma mansoni, the causative agent for the most widespread form of intestinal schistosomiasis. Within Biomphalaria, S. mansoni larvae multiply and transform into the cercariae form that can infect humans. Read More

Heliyon 2020 Dec 4;6(12):e05630. Epub 2020 Dec 4.

Zoology Department, Faculty of Science, Zagazig University, Zagazig 44519, Egypt.

The present study focused on evaluating the effects of oral administration of three different concentrations of Yasmin® combined contraceptive pills (estrogen and progesterone) on reproductive hormones levels, histology of the ovotestis and rate of oviposition of for two months using baits technique. The levels of anti-müllerian hormone (AMH), Follicle stimulating hormone (FSH), Luteinizing hormone (LH), Estradiol (E2), Progesterone(PRG), Thyroid-stimulating hormone (TSH) and Testesterone (T) of treated snails were decreased with increasing the drug concentrations by percentages of -83.3%, -78. Read More

Clin Endocrinol (Oxf) 2021 Apr 26;94(4):667-676. Epub 2020 Dec 26.

Pediatric Endocrinology Department, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Robert Debré Hospital, Assistance publique-Hôpitaux de Paris, Paris, France.

Objective: SRY-negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome. To date, very few studies have described the phenotype, clinical and surgical management and long-term outcomes of these patients. Particularly, early blockade of the gonadotropic axis in patients raised in the female gender to minimize postnatal androgenization has never been reported. Read More

Cell Biosci 2020 Nov 10;10(1):129. Epub 2020 Nov 10.

Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, Wuhan University, Wuhan, 430072, China.

Background: Both testis and ovary can be produced sequentially in an individual with the same genome when sex reversal occurs in the teleost Monopterus albus, and epigenetic modification is supposed to be involved in gonadal differentiation. However, DNA methylation regulation mechanism underlying the gonadal differentiation remains unclear.

Results: Here, we used liquid chromatography-electrospray ionization tandem mass spectrometry (LC-ESI-MS/MS) to simultaneously determine endogenous levels of both 5-methyl-2'-deoxycytidine (mdC) and 5-hydroxymethyl-2'-deoxycytidine (hmdC) during gonadal differentiation. Read More

J Pediatr Urol 2020 Dec 15;16(6):768-770. Epub 2020 Oct 15.

Department of Pediatric Urology, Hôpital Universitaire des Enfants Reine Fabiola, ULB, Brussels, Belgium.

Ovotesticular disorder of sex development (OTD) management remains challenging. In OTD, cautious gonadal evaluation and separation of ovarian and testicular components might be required to avoid virilization of a patient with female identity. Herein we report our minimal invasive approach in this very rare condition. Read More

J Clin Med 2020 Nov 4;9(11). Epub 2020 Nov 4.

Departmentof Gynecology, Miguel Hernández University, San Juan Campus, 03550 San Juan, Alicante, Spain.

In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and Klinefelter syndrome (dysgenesis and polysomies with a female phenotype; and sex reversal and Klinefelter with a male phenotype). Other infertility situations could also be included here as minor degrees of dysgenesis. Read More

Indian J Endocrinol Metab 2020 Jul-Aug;24(4):360-365. Epub 2020 Aug 27.

Department of Endocrinology, St Johns Medical College, Banglore, Karnataka, India.

Background: Disorders of sex development (DSD) are a wide range of relatively rare conditions having diverse pathophysiology. Identification of an underlying cause can help in treating any coexisting hormone deficiencies and can help with anticipating any other immediate or long-term health concerns.

Objective: To study the clinical and biochemical profile of patients with 46 XY DSD along with androgen receptor (AR) gene mutation status in selected group of patients. Read More

Medicine (Baltimore) 2020 Oct;99(40):e22530

Department of Urology, the Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu, China.

Rationale: Ovotesticular disorder of sex development (DSD), previously known as true hermaphroditism, is a disorder in which individuals have both testicular and ovarian tissues. Instances of tumors arising in the gonads of individuals with 46,XX ovotesticular DSD are uncommon.

Patient Concerns: We report a case of a 36-year-old phenotypical male with a chief complaint of an abdominal mass for 3 months. Read More

Front Endocrinol (Lausanne) 2020 8;11:619. Epub 2020 Sep 8.

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.

Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian hormone (AMH), a glycoprotein hormone produced in large amounts by immature testicular Sertoli cells, may be an extremely helpful parameter. Read More

Sex Dev 2019 19;13(5-6):271-277. Epub 2020 Sep 19.

Tetragametic chimeras are due to the fusion of 2 different zygotes after fertilization. When occurring between embryos of different chromosomal sex, the phenotype ranges from fertile individuals to infertile patients and even to patients with variations in sex development. Here, we report 3 new cases of XX/XY chimeras, one in a young boy carrying an abnormal gonad which turned out to be an ovary and 2 in phenotypically normal infertile men, one of whom had been diagnosed previously as a XX-SRY negative male. Read More

Animals (Basel) 2020 Sep 16;10(9). Epub 2020 Sep 16.

Department of Agricultural and Environmental Sciences, Milano University, via Celoria 2, 20133 Milan, Italy.

Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of specific breeds thus representing a cause of economic losses for breeders. The aim of this research is to report the clinical, cytogenetic and molecular genetic findings of four XX -negative DSD dog cases. Read More

J Exp Zool A Ecol Integr Physiol 2020 11 26;333(9):652-659. Epub 2020 Aug 26.

Waseda Research Institute for Science and Engineering, Waseda University, Shinjuku-ku, Tokyo, Japan.

Steroid hormones play very important roles in gonadal differentiation in many vertebrate species. Previously, we have determined a threshold dosage of testosterone (T) to induce female-to-male sex reversal in Glandirana rugosa frogs. Genetic females formed a mixture of testis and ovary, the so-called ovotestis, when tadpoles of G. Read More

Front Genet 2020 16;11:709. Epub 2020 Jul 16.

School of Marine Sciences, Sun Yat-sen University, Zhuhai, China.

Yellowfin seabream (), a protandrous hermaphroditic fish, is a good model for studying the mechanism of sex reversal. However, limited knowledge is known about the genetic information related to reproduction and sex differentiation in this species. Here, we performed transcriptome sequencing analysis of the testis, ovotestis, and ovary to identify sex-related genes in yellowfin seabream. Read More

Pediatr Endocrinol Rev 2020 Jun;17(3):243-249

Division of Pediatric Endocrinology, Instituto da Criança, Hospital das Clínicas, University of São Paulo, São Paulo, Brazil.

Background: Ovotesticular Difference of Sex Development (OT DSD) is a rare condition characterized by histologic demonstration of ovarian and testicular tissue in the same individual. Descriptions in literature usually do not include long term follow-up data.

Objectives: The aim of this study is to describe clinical, biochemical and histological findings, as well as long term outcomes (including onset and progression of puberty) in patients with OT DSD. Read More

J Reprod Infertil 2020 Jul-Sep;21(3):222-224

Department of Genetics and Molecular Medicine, Vasavi Medical and Research Centre, Hyderabad, India.

Background: Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual. Both elements can be present in the same gonad (ovotestis) or separately in the same individual or as a unilateral ovotestis and the other side with testis or ovary. A mosaic with 46,XY would present with problems related to male infertility and in general, testicular insufficiency, but with a 46,XX mosaic, it is a completely rare presentation. Read More

Reprod Domest Anim 2020 Sep 2;55(9):1172-1179. Epub 2020 Aug 2.

Small Animal Teaching Hospital, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.

Disorders of sexual development (DSD) in dogs involve most commonly an XX sex reversal syndrome, treated conventionally by gonadohysterectomy. The objective of the present case series is to describe the surgical treatment and long-term follow-up of dogs undergoing laparoscopic gonadectomy without hysterectomy for treatment of ovotesticular DSD. Six female dogs clinically diagnosed with DSD were retrospectively included in the study when laparoscopic gonadectomy was performed and histology confirmed the presence of abnormal gonads. Read More

Proc Natl Acad Sci U S A 2020 06 3;117(24):13680-13688. Epub 2020 Jun 3.

Endocrinology Department, Research Unit Garrahan Consejo Nacional de Investigaciones Cientificas y Tecnologicas, Hospital de Pediatría Garrahan, Ciudad Autonoma de Buenos Aires 1245, Argentina.

Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD (TDSD) or ovotesticular DSD (OTDSD), testicular tissue is present in the gonad. Although the testis-determining gene is present in many cases, the etiology is unknown in most -negative patients. Read More

Medicine (Baltimore) 2020 May;99(22):e20472

The Department of Oncology, People's Hospital of Guilin.

Introduction: True hermaphroditism is a rare and usually sporadic disorder. It is defined by the presence of both ovarian and testicular tissues together as ovotestis.

Patient Concerns: In this study, we reported a rare true hermaphroditism case with dysgerminoma. Read More

Hum Mol Genet 2020 08;29(13):2148-2161

Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Melbourne, VIC 3168, Australia.

In mice, male sex determination depends on FGF9 signalling via FGFR2c in the bipotential gonads to maintain the expression of the key testis gene SOX9. In humans, however, while FGFR2 mutations have been linked to 46,XY disorders of sex development (DSD), the role of FGF9 is unresolved. The only reported pathogenic mutations in human FGF9, FGF9S99N and FGF9R62G, are dominant and result in craniosynostosis (fusion of cranial sutures) or multiple synostoses (fusion of limb joints). Read More

Cells 2020 04 29;9(5). Epub 2020 Apr 29.

Université Côte d'Azur, CNRS, Inserm, Institut de Biologie Valrose (iBV), 06108 Nice, France.

The transcription factors SRY and SOX9 and RSPO1/WNT4/β-Catenin signaling act as antagonistic pathways to drive testis and ovary development respectively, from a common gonadal primordium in mouse embryos. In this work, we took advantage of a double knockout mouse model to study gonadal development when and are both mutated. We show that the XX gonad mutant for or for both and develop as ovotestes, demonstrating that ectopic SOX9 function is not required for the partial female-to-male sex reversal caused by a mutation. Read More

Bull Environ Contam Toxicol 2020 Jun 20;104(6):738-747. Epub 2020 Apr 20.

Department of Biology, Faculty of Science, Dicle University, 21280, Diyarbakır, Turkey.

In this study, freshwater snail (Physa acuta) was investigated to determine histopathological effects of CuSO on digestive gland, foot, mantle and ovotestis under laboratory conditions. The snails were exposed to different sublethal concentrations of CuSO (0.05 mg/L, 0. Read More

Sex Dev 2019 10;13(4):187-194. Epub 2020 Apr 10.

This study aimed to delineate internal genitalia phenotypes in patients with ovotesticular disorders of sex development (OT-DSD). Therefore, a cohort of 22 OT-DSD patients admitted to the Peking Union Medical College Hospital from March 1977 to August 2019 was analyzed retrospectively. The characteristics of karyotype, gonad type and location, and internal genital organs were reviewed and compared to 242 pooled cases from the Chinese literature. Read More

Gene 2020 Jun 4;745:144651. Epub 2020 Apr 4.

State Key Laboratory of Marine Resource Utilization in South China Sea, Hainan Aquaculture Breeding Engineering Research Center, Hainan University, Haikou, Hainan 570228, China; Institute of Aquatic Economic Animals, School of Life Sciences, Sun Yat-Sen University, Guangzhou, Guangdong 510275, China.

Sexual differentiation and ovotestis development are closely associated with cortisol levels, the principal indicator of stress, via the glucocorticoid receptor (GR) in teleosts. Thus, GR is regarded as a mediator to expound the relationship between social stress and gonad development. In the present study, two gr genes (gr1 and gr2) were cloned and analyzed from a protandrous hermaphroditic teleost, the yellowtail clownfish (Amphiprion clarkii). Read More