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Genomics 2022 May 18:110389. Epub 2022 May 18.

Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637 Poznan, Poland. Electronic address:

Disorders of sex development (DSDs) are congenital malformations defined as discrepancies between sex chromosomes and phenotypical sex. Testicular or ovotesticular XX DSDs are frequently observed in female dogs, while monogenic XY DSDs are less frequent. Here, we applied whole genome sequencing (WGS) to search for causative mutations in XX DSD females in French Bulldogs (FB) and American Staffordshire Terries (AST) and in XY DSD Yorkshire Terries (YT). Read More

Environ Toxicol Chem 2022 May 3. Epub 2022 May 3.

Nanobioscience, Yokohama City University, 22-2 Seto, Kanazawa-ku, Yokohama, 236-0027, Japan.

Chemicals with androgenic or estrogenic activity induce the sex reversal and/or intersex condition in various teleost fish species. Previously, we reported that exposure to 17α-methyltestosterone, bisphenol A, or 4-nonylphenol induces changes in expression of gonadal soma-derived factor (gsdf) gene accompanied by disruption of gonadal differentiation in Japanese medaka (Oryzias latipes). These findings suggest that gsdf expression might be a useful biomarker for predicting potential of chemicals on gonadal differentiation. Read More

Animals (Basel) 2022 Mar 29;12(7). Epub 2022 Mar 29.

Exotic and Wild Animal Service, Veterinary Hospital of University of Trás-os-Montes e Alto Douro (UTAD), P.O. Box 1013, 5000-801 Vila Real, Portugal.

A 3-to-4-year-old roe deer ( L.) was admitted to the Veterinary Hospital. Although it showed well-developed antlers with retained velvet, an external female appearance and genitalia were evident. Read More

Front Genet 2022 23;13:816955. Epub 2022 Mar 23.

Department of Aquaculture, National Taiwan Ocean University, Keelung, Taiwan.

Unlike gonochoristic fishes, sex is fixed after gonadal differentiation (primary sex determination), and sex can be altered in adults (secondary sex determination) of hermaphroditic fish species. The secondary sex determination of hermaphroditic fish has focused on the differences between testicular tissue and ovarian tissue during the sex change process. However, comprehensive studies analyzing ovarian tissue or testicular tissue independently have not been performed. Read More

Sci Rep 2022 03 30;12(1):5408. Epub 2022 Mar 30.

Department of Developmental Biochemistry, Biocenter, University of Wuerzburg, Am Hubland, 97074, Wuerzburg, Germany.

Fish are amongst vertebrates the group with the highest diversity of known sex-determining genes. Particularly, the genus Oryzias is a suitable taxon to understand how different sex determination genetic networks evolved in closely related species. Two closely related species, O. Read More

Differentiation 2021 Dec 20. Epub 2021 Dec 20.

University of California, Department of Urology, 550 16th St, 5th Floor, Mission Hall Pediatric Urology, San Francisco, CA, 94158, USA.

Ovotesticular syndrome is a rare disorder of sex development characterized by the presence of testicular and ovarian tissue. The histologic characteristics of human testicular tissue are well defined by the presence of seminiferous cords or tubules containing TSPY-positive germ cells and Sox9-positive Sertoli cells surrounded by interstitial tissue containing cytochrome P450-positive Leydig cells and smooth muscle α-actin-positive peritubular myoid cells. The histological characteristics of the ovary can be defined by germ cell nests and the development of follicles. Read More

Ann Endocrinol (Paris) 2022 02 9;83(1):75-78. Epub 2021 Dec 9.

Medical Genetics Department, 'Iuliu Hațieganu' University of Medicine and Pharmacy, Cluj-Napoca, Romania.

Urology 2022 03 28;161:96-99. Epub 2021 Nov 28.

Department of Urology, Division of Pediatric Urology, University of Florida College of Medicine, Gainesville, FL. Electronic address:

Ovotesticular disorder is a rare form of sexual development in which a patient may have one ovary and one testis, or more commonly a gonad or gonads containing both ovarian and testicular tissue. Patients with this condition typically present in infancy with ambiguous genitalia. Delayed presentations of clinically symptomatic, older patients with normal external genitalia are extremely rare. Read More

Bull Environ Contam Toxicol 2022 Apr 19;108(4):663-671. Epub 2021 Nov 19.

Department of Zoology, College of Science, King Saud University, P.O. Box 145111, Riyadh, Saudi Arabia.

This study aimed to investigate the testicular function of Mugil cephalus that inhabit Wadi El-Rayan lakes. Testes of fish inhabiting the upper lake (site 2) and the lower lake (site 3) of Wadi El-Rayan showed significant decreases in gonadosomatic index, high accumulation levels of six metals, and eight organochlorine pesticide residues. Compared to reference fish, high percentages of histological alterations as testicular degeneration, germ cell reduction, testicular inflammation, vacuolization, and loss of tubular arrangement were observed in sites 2 and 3. Read More

Proc (Bayl Univ Med Cent) 2021 23;34(6):739-741. Epub 2021 Jul 23.

College of Medicine, Texas A&M Health Science Center, Temple, Texas.

Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development. Also known as 45XO/46XY mosaicism, MGD is characterized by highly variable sexual phenotypes and an increased risk of gonadal malignancy. Patients with MGD often have a unilateral descended gonad and contralaterally either a streak gonad or no gonad. Read More

Cureus 2021 Oct 5;13(10):e18512. Epub 2021 Oct 5.

Department of Urology, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, USA.

Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs. Ovotesticular disorder of sex development (OT-DSD) is a condition in which a child is born with both testicular tissue (that possesses variable fertility potential within seminiferous tubules) and ovarian tissue (with primordial follicles). These tissues may be co-existent in the same gonad (ovotestis) or independently in separate gonads. Read More

Theriogenology 2021 Dec 3;176:188-193. Epub 2021 Oct 3.

Yangtze River Fisheries Research Institute, Chinese Academy of Fishery Sciences, Wuhan, 430223, China. Electronic address:

The dead end gene has been identified as a essential factor for Primordial germ cells (PGCs) migration and survival in many species, but its role in Monopterus albus is unclear. In order to clarify the function of dead end gene in M.albus PGCs migration and survival, we first characterized the expression profile of M. Read More

Comp Biochem Physiol B Biochem Mol Biol 2022 Jan 6;257:110674. Epub 2021 Oct 6.

Key Laboratory of Freshwater Fish Reproduction and Development (Ministry of Education), Key Laboratory of Aquatic Science of Chongqing, School of Life Sciences, Southwest University, 400715 Chongqing, PR China. Electronic address:

Histone lysine demethylases (KDM) are responsible for histone demethylation and are involved in gene expression regulation. Previous studies have shown that histone lysine demethylation plays an important role in gonadal development of vertebrates. The KDM family consists of eight subfamilies, i. Read More

Domest Anim Endocrinol 2022 01 31;78:106654. Epub 2021 Jul 31.

Chair of Anatomy, Histology and Embryology, Department of Veterinary Sciences, Faculty of Veterinary Medicine, LMU Munich, Munich, Germany.

Disorders of sexual development (DSD) may have their origin in alterations of the chromosomal, gonadal or phenotypic sex. Affected animals are usually presented because of ambiguous external genitalia, seldom because of reproductive disorders. Anti-Müllerian hormone (AMH) is secreted in the gonads with higher amounts in males than in females and can be used to identify gonadal tissue in sexually normally developed dogs. Read More

Gynecol Minim Invasive Ther 2021 Jul-Sep;10(3):171-173. Epub 2021 Aug 3.

Department of Pathology, AIIMS, Jodhpur, Rajasthan, India.

Ovotesticular disorder represents 10% of cases of disorder of sex development characterized by the presence of both ovarian and testicular tissue in the same individual, with karyotype 46 XY being a rare sex chromosomal abnormality. We report the case of a 16-year-old person, who is reared as female, with a complaint of primary amenorrhea along with lack of secondary sexual characteristics, karyotype 46 XY. Prophylactic bilateral gonadectomy was done, and histopathological examination of bilateral gonads revealed ovarian stroma with a few Sertoli cell line tubules suggestive of bilateral ovotestis; hence, we concluded and framed our diagnosis of ovotesticular disorder. Read More

Horm Res Paediatr 2021 Sep 1:275-284. Epub 2021 Sep 1.

Department of Internal Medicine and Pediatrics, Ghent University and Pediatric Endocrinology Service, Ghent University Hospital, Ghent, Belgium.

Background: Ovotesticular disorder/difference of sex development (DSD) refers to the co-presence of testicular and ovarian tissue in one individual. Childhood management is challenging as there are many uncertainties regarding etiology, gonadal function, and gender outcome.

Summary: Ovotesticular DSD should mainly be considered in 46,XX children with atypical genitalia and normal adrenal steroid profiles. Read More

Comp Biochem Physiol B Biochem Mol Biol 2022 Jan 26;257:110672. Epub 2021 Aug 26.

Key Laboratory of Tropical and Subtropical Fishery Resources Application and Cultivation, Ministry of Agriculture and Rural Affairs, Pearl River Fisheries Research Institute, Chinese Academy of Fishery Sciences, Guangzhou 510380, China. Electronic address:

Dmrt1 is an important transcriptional regulator that plays critical role in male gonadogenesis, testicular differentiation and development. In this study, Dmrt1 was cloned from blotched snakehead (Channa maculata), which is designated as CmDmrt1. CmDmrt1 encoded a putative protein with 293 amino acids and presented an extremely conserved DM domain. Read More

Fish Physiol Biochem 2021 Oct 20;47(5):1565-1583. Epub 2021 Aug 20.

Key Laboratory of Healthy Mariculture for East China Sea, Ministry of Agriculture, Fisheries College, Jimei University, Xiamen, 361021, China.

Pearlscale angelfish Centropyge vrolikii is a kind of protogynous hermaphrodite fish with a natural sexual reversion. Under appropriate social conditions, a female fish can transform into a male fish spontaneously. It is an important prerequisite for artificial breeding to understand the process of its gonadal development and sexual reversion. Read More

Indian J Endocrinol Metab 2021 Jan-Feb;25(1):48-53. Epub 2021 Jul 21.

Department of Pediatrics, Dr. D. Y. Patil Medical College Hospital and Research Center, Pune, Maharashtra, India.

Objectives: To present the clinical profile, diagnostic work-up, and management of children with Disorders of Sexual Development (DSD).

Materials And Methods: A retrospective study from a tertiary pediatric endocrine unit of western India. We included 39 patients who presented over a period of 9 years from June 2009 to June 2018. Read More

J Pediatr Urol 2021 08 7;17(4):583-584. Epub 2021 Jul 7.

Pediatric Surgery Service, Hospital de Clínicas, Porto Alegre, Brazil; Coordinator of the Disorders of Sexual Development (DSD) Multidisciplinary Team, Hospital de Clínicas, Porto Alegre, Brazil. Electronic address:

Introduction: Ovotesticular disorder of sex development (OTD) is a rare condition. There's a lack of literature addressing gonad-sparing surgery for OTD.

Objective: Report the laparoscopic partial gonadectomy technique - gonad-sparing surgery - in an 11-year-old child, 46, XX karyotype with OTD with atypical genitalia. Read More

Ecotoxicol Environ Saf 2021 Oct 30;222:112462. Epub 2021 Jun 30.

Institute of Hydrobiology, Zhejiang Academy of Agricultural Sciences, Hangzhou 310021, China. Electronic address:

Endocrine disrupting chemicals (EDCs) including 17β-estradiol (E2) are widely distributed in the aquatic environment and are known to negatively affect the reproductive system of many animals, including fish. EDCs leading to feminization, altered sex ratio and reduced fecundity, it is possibly posing potential risks to the ecosystems. To investigate the potentially toxic effects of E2 exposure on little yellow croaker (Larimichthys polyactis, L. Read More

Front Pediatr 2021 11;9:682846. Epub 2021 Jun 11.

Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Very few reports are available on human XX ovotesticular disorder of sex development involving gene duplication. Here we aim to present a rare case of gene duplication in a person from the Chinese population who exhibits XX ovotesticular disorder of sex development. A 7-year-old Chinese individual from Fujian province in Southeast China was recruited. Read More

J Comp Physiol A Neuroethol Sens Neural Behav Physiol 2021 07 6;207(4):523-532. Epub 2021 Jun 6.

Graduate School of Science, Osaka City University, Osaka, Osaka, 558-8585, Japan.

Photoperiod is a reliable cue to regulate growth and reproduction for seasonal adaptation. Although photoperiodism has been well studied in Chordata and Arthropoda, less is known about Mollusca. We examined photoperiodic effects on egg laying, body size, gonad-somatic index, oocyte size and relative amounts of caudodorsal cell hormone mRNA in individual rearing conditions in the pond snail Lymnaea stagnalis. Read More

Am J Med Genet A 2021 09 29;185(9):2782-2788. Epub 2021 May 29.

Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

Ovotesticular differences of sexual development (OT-DSD) are rare genetic variances defined by the coexistence of both testicular and ovarian tissues. Various molecular etiologies including SRY translocation or SOX9 pathogenic variants with different modes of inheritance have been associated with 46,XX OT-DSD. Here we describe a child diagnosed with SRY-negative 46,XX OT-DSD after completing a series of complex clinical genetic analyses, including chromosomal microarray, DSD gene panel (sequencing and deletion/duplication analysis), whole exome sequencing, and whole genome sequencing. Read More

Anim Reprod Sci 2021 Jul 19;230:106771. Epub 2021 May 19.

Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland. Electronic address:

Disorders of sex development (DSD) caused by chromosome abnormalities are rarely diagnosed in dogs. In this report, there is a focus on five DSD cases in which the dogs had abnormal karyotypes. All animals were recognized by owners as females, however, these dogs had a large number of reproductive defects. Read More

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

Acta Medica (Hradec Kralove) 2021 ;64(1):42-45

Fingerland Department of Pathology, University Hospital Hradec Králové, Faculty of Medicine Hradec Králové, Charles University, Czech Republic.

Disorders of sexual development (DSD) refers to a group of diseases that links the mismatch between an individual's genetic and gonadal development and its phenotype. Ovotesticular DSD (true hermaphroditism) is one such disease, in which both male and female gonads are present. A 15-year-old boy with a history of surgery for non-palpable testis was examined due to bilateral gynecomastia and known gonosomal mosaic of Klinefelter syndrome. Read More

Cell Death Dis 2021 04 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 Oct 2;34(5):626-630. 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 2020 2;14(1-6):3-11. 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