696 results match your criteria Ovotestis


Genetic evaluation of disorders of sex development: current practice and novel gene discovery.

Curr Opin Endocrinol Diabetes Obes 2018 Nov 30. Epub 2018 Nov 30.

Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.

Purpose Of Review: As the pace of genetic discovery accelerates, genetic sequencing is increasingly applied to rare disease such as DSD (differences or disorders of sex development,) which has led to an increase in the number of novel variant-containing candidate genes identified. In this review, we will discuss several candidate genes which have recently been proposed as causative of DSD, as well as novel work in understanding gene regulation in the mouse gonad that may have implications for the DSD phenotype in humans.

Recent Findings: We performed a comprehensive search of PubMed through August 2018 to identify relevant peer-reviewed publications from 2017 to 2018 on DSD genetics. Read More

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November 2018

A comparative transcriptomic study on developmental gonads provides novel insights into sex change in the protandrous black porgy (Acanthopagrus schlegelii).

Genomics 2018 Nov 12. Epub 2018 Nov 12.

Shenzhen Key Lab of Marine Genomics, Guangdong Provincial Key Lab of Molecular Breeding in Marine Economic Animals, BGI Academy of Marine Sciences, BGI Marine, BGI, Shenzhen 518083, China; BGI-Zhenjiang Institute of Hydrobiology, BGI Marine, Zhenjiang 212000, China. Electronic address:

Protandrous black porgy (Acanthopagrus schlegelii) is a popular and valuable commercial marine fish in China and East Asian countries. Controlling and managing its breeding has been an imperative step towards obtaining a sustainable supply of this fish in aquaculture production systems. Therefore, study on the molecular mechanisms of sex change in black porgy has both scientific and commercial importance. Read More

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November 2018
11 Reads

Biological and histological changes in reproductive patterns of Biomphalaria glabrata experimentally co-infected by Echinostoma paraensei and Angiostrongylus cantonensis.

Exp Parasitol 2018 Dec 25;195:66-70. Epub 2018 Oct 25.

Laboratório de Biologia e Parasitologia de Mamíferos Silvestres Reservatórios, Instituto Oswaldo Cruz, Fiocruz, Av. Brazil 4365, CEP 21040-30, Rio de Janeiro, Brazil.

Investigation of co-infection by different helminths in snails can provide essential information about the biology of parasites co-existence under natural conditions. This study aimed to investigate the reproductive and histological changes of Biomphalaria glabrata experimentally co-infected with Echinostoma paraensei and Angiostrongylus cantonensis. Five groups of snails i. Read More

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December 2018
2 Reads

First record of Bulimulus tenuissimus (Mollusca) as potential experimental intermediate host of Angiostrongylus cantonensis (Nematoda).

Braz J Biol 2018 Oct 29. Epub 2018 Oct 29.

Programa de Pós-graduação em Ciências Veterinárias, Instituto de Veterinária, Universidade Federal Rural do Rio de Janeiro - UFRRJ, BR 465, Km 7, CEP 23897-000, Seropédica, RJ, Brasil.

Snails are essential to complete the life cycle of the metastrongylid nematode Angiostrongylus cantonensis, the causative agent of infections in domestic and wild animals, mainly rodents, and also of neural angiostrongyliasis or eosinophilic meningitis in humans. There are many reports of mollusks that can act as intermediate hosts of this parasite, especially freshwater snails and the African giant Achatina fulica. The terrestrial gastropod Bulimulus tenuissimus is widely distributed in Brazil and other species of the same genus occur in Brazil and other countries, overlapping regions in which there are reports of the occurrence of A. Read More

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October 2018
6 Reads

NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.

Hum Mutat 2018 Oct 23. Epub 2018 Oct 23.

Murdoch Children's Research Institute, Melbourne, Australia.

Several recent reports have described a missense variant in the gene NR5A1 (c.274C>T; p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular disorders of sex development (DSDs) cases. Read More

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October 2018
15 Reads

An ovotestis event in the gonochoric sea urchin Loxechinus albus (Echinodermata: Echinoidea).

Braz J Biol 2018 Oct 8. Epub 2018 Oct 8.

Facultad de Ciencias del Mar - FACIMAR, Universidad Autonoma de Sinaloa - UAS, CP 80000, Mazatlan, Sinaloa, Mexico.

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October 2018
1 Read

Ovotesticular Disorders of Sex Development: Improvement in Spermatogonia after Removal of Ovary and Müllerian Structures.

J Pediatr Adolesc Gynecol 2018 Sep 21. Epub 2018 Sep 21.

Department of Obstetrics and Gynaecology, Sabah Women's and Children's Hospital, Kota Kinabalu, Sabah, Malaysia.

Background: Ovotesticular disorders of sex development is a condition defined as the presence of ovarian tissue containing ovarian follicles and testicular tissue containing seminiferous tubules in the same individual.

Case: We report on a 19-year-old who is phenotypically male, with a 46,XX/46,XY mosaicism karyotype, who presented later in life with cyclical abdominal pain that resembled menstrual cramps and unilateral undescended testes.

Summary And Conclusion: He underwent laparoscopic hysterectomy and right salpingo-oophorectomy, resulting in cessation of his symptoms and improved sperm count. Read More

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September 2018
8 Reads

Ovotestis at 18 years: an accidental discovery in an internally displaced persons' camp in North-Eastern Nigeria.

J Obstet Gynaecol 2018 Sep 22:1-3. Epub 2018 Sep 22.

b Department of Pathology , University of Maiduguri Teaching Hospital , Maiduguri , Borno State , Nigeria.

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September 2018
2 Reads

Ultrastructure Based Morphofunctional Variation of Olfactory Crypt Neuron in a Monomorphic Protogynous Hermaphrodite Mudskipper (Gobiidae: Oxudercinae) ( [Bloch and Schneider]).

J Microsc Ultrastruct 2018 Apr-Jun;6(2):99-104

Department of Zoology, Ultrastructure and Fish Biology Research Unit, Vidyasagar University, Midnapore, West Bengal, India.

(Bloch and Schneider) is a monomorphic protogynous hermaphrodite teleost that possesses ovotestis as gonadal unit of reproductive structure. At the onset of breeding season (i.e. Read More

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September 2018
1 Read

Analysis of Presentations and Outcomes of Care of Children with Disorders of Sexual Development in a Nigerian Hospital.

J Pediatr Adolesc Gynecol 2018 Aug 24. Epub 2018 Aug 24.

Division of Paediatric Surgery, Department of Surgery, University of Ilorin/University of Ilorin Teaching Hospital, Ilorin, Nigeria.

Study Objective: To describe the presentation, diagnosis, management, and short-term outcome of children with disorders of sexual development (DSD) in the context of multidisciplinary team care.

Design: Prospective descriptive study.

Setting: University Teaching Hospital. Read More

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August 2018
5 Reads

Endocrine disruptor responses in African sharptooth catfish (Clarias gariepinus) exposed to di-(2-ethylhexyl)-phthalate.

Comp Biochem Physiol C Toxicol Pharmacol 2018 Nov 6;213:7-18. Epub 2018 Jul 6.

Department of Biology, Norwegian University of Science and Technology (NTNU), Høgskoleringen 5, N-7491 Trondheim, Norway. Electronic address:

In the present study, we have investigated the endocrine disruptive effects of waterborne di-(2-ethylhexyl) phthalate (DEHP: 0 (control), 10, 100, 200 and 400 μg/L) on juvenile Clarias gariepinus by analyzing transcript patterns for hepatic vitellogenin (vtg), estrogen receptor-α (er-α), aromatase (cyp19a1b) and peroxisome proliferator activated receptor-α (ppar-α) using quantitative real-time PCR after 3, 7 and 14 days exposure period. In addition, we analyzed CYP19 and PPAR protein levels using enzyme-linked immunosorbent assay (ELISA), while cellular testosterone (T) and 17β-estradiol (E2) levels were measured using enzyme immune assay (EIA). Tissue burden of DEHP was measured in the liver using gas chromatography-mass spectroscopy (GC-MS). Read More

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November 2018
3 Reads

[Pathologic features on gonadal changes of sexual developmental disorders in children].

Zhonghua Bing Li Xue Za Zhi 2018 Jul;47(7):531-535

Department of Pediatric Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China.

To investigate the pathologic features of gonadal tissues of disorders of sexual development (DSD) in children. Fifty-three cases of gonadal developmental disorders were collected from July 2015 to August 2017 at Guangzhou Women and Children's Medical Center. Clinical manifestations, karyotypes, sex hormone levels, ultrasound imaging, histology and immunophenotype of gonadal tissues were analyzed. Read More

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July 2018
15 Reads

Clitoroplasty: A variant of the technique by Acimi.

Arab J Urol 2018 Jun 22;16(2):232-237. Epub 2018 Feb 22.

Department of Pediatric Surgery, CHU of Sidi Bel Abbes, University of Sidi Bel Abbes, Sidi Bel Abbes, Algeria.

Objectives: To evaluate the mid-term results of clitoroplasty through the reduction of the length and diameter of the corpus cavernosum, as well as the volume of the glans.

Patients And Methods: From October 2003 to July 2015, we performed 29 clitoroplasties using the described procedure. The median (range) age of the patients was 18 (3-47) months. Read More

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June 2018
6 Reads

Alternative splicing of GnRH2 and GnRH2-associated peptide plays roles in gonadal differentiation of the rice field eel, Monopterus albus.

Gen Comp Endocrinol 2018 10 18;267:9-17. Epub 2018 May 18.

State Key Laboratory of Freshwater Ecology and Biotechnology, Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan 430072, China. Electronic address:

The rice field eel, Monopterus albus, is a protogynous hermaphrodite fish, in which the gonads are initially female ovaries which then transform into male testes. The exact mechanisms governing sex reversal in the rice field eel are unknown. In this study, a novel alternative splicing variant of GnRH2 (GnRH2-SV), retaining the second intron, was discovered in the gonad of the rice field eel. Read More

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October 2018
2 Reads

Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development.

Reprod Biomed Online 2018 Jul 4;37(1):107-112. Epub 2018 Apr 4.

Unidad de Investigación en Obesidad, Facultad de Medicina, Universidad Nacional Autónoma de México and Clínica de Obesidad, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México DF, México. Electronic address:

Research Question: The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease.

Design: Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed. Read More

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July 2018
3 Reads

Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson-Golabi-Behmel Syndrome: Expansion of the Clinical Spectrum.

Pediatr Dev Pathol 2018 04 13:1093526618770327. Epub 2018 Apr 13.

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

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April 2018
13 Reads

Identification of ectopic ovotestis in a dog with XX ovotesticular, SRY-negative, disorder of sexual development.

Reprod Domest Anim 2018 Jun 24;53(3):822-825. 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

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June 2018
2 Reads

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 Jun 5;47(3):192-197. 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

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June 2018
12 Reads

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 03 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

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March 2018
10 Reads

CRISPR/Cas9-mediated mosaic mutation of gene induces hermaphroditism in rabbits.

Biosci Rep 2018 04 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

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April 2018
4 Reads

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

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February 2018
9 Reads

46,XY ovotesticular disorders of sex development: A therapeutic challenge.

Pediatr Rep 2017 Nov 11;9(4):7085. Epub 2017 Dec 11.

Department of Pediatrics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

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November 2017
4 Reads

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.

Sex Dev 2017 21;11(5-6):269-274. Epub 2017 Dec 21.

Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco.

R-spondin proteins are secreted agonists of canonical WNT/β-catenin signaling. Homozygous RSPO1 mutations cause a syndrome of 46,XX disorder of sexual development (DSD), palmoplantar keratoderma (PPK), and predisposition to squamous cell carcinoma. We report exome sequencing data of two 46,XX siblings, one with testicular DSD and the other with suspected ovotesticular DSD. Read More

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October 2018
9 Reads

Chronic Exposure to Water of Lake Qaroun Induced Metal-Related Testicular Damage and Endocrine Disruption in Male Fish.

Biol Trace Elem Res 2018 Sep 18;185(1):197-204. 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

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September 2018
21 Reads

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

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December 2017
8 Reads

Haploinsufficiency of the Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development

Balkan Med J 2018 05 8;35(3):272-274. Epub 2017 Dec 8.

Clinic of Medical Genetics, University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey

Background: Ovotesticular disorder is characterized by the presence of testicular and ovarian tissues in the same individual. Single gene mutations in and can lead to ovotesticular disorder of sexual development.

Case Report: Herein, we report a 3-month-old phenotypically female baby in whom differentiated tissues of both Müllerian and Wolffian ducts were detected on pathological analysis of laparoscopic biopsy material. Read More

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May 2018
4 Reads

VISUAL VIGNETTE.

Endocr Pract 2018 Feb 16;24(2):233. Epub 2017 Nov 16.

From the 1Division of Endocrinology, Department of Medicine, Walter Reed National Military Medical Center, Bethesda, Maryland.

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February 2018
4 Reads

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

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October 2017
2 Reads

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

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November 2018
22 Reads

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

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November 2017
5 Reads

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

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August 2017
39 Reads

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

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September 2017
9 Reads

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

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August 2017
6 Reads

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

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June 2017
13 Reads

Pragmatic approach to intersex, including genital ambiguity, in the newborn.

Semin Perinatol 2017 06 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

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June 2017
11 Reads

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

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October 2017
14 Reads

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

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July 2017
10 Reads

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

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March 2018
11 Reads

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

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March 2018
5 Reads

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

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March 2017
24 Reads

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

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May 2017
3 Reads

Potential autofertility in true hermaphrodites.

Authors:
Zeki Bayraktar

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

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February 2018
34 Reads

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

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May 2017
41 Reads

Comparative Morphology of the Penis and Clitoris in Four Species of Moles (Talpidae).

J Exp Zool B Mol Dev Evol 2017 05 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

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May 2017
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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

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December 2016
4 Reads

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

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December 2016
12 Reads

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

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November 2016
20 Reads

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

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June 2017
4 Reads

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

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February 2017
4 Reads