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J Pediatr Urol 2019 Mar 7. Epub 2019 Mar 7.

Paediatric Surgery Unit, Federal Teaching Hospital, Abakaliki, Nigeria.

Background: In patients with disorders of sex development (DSD), surgical/medical treatments are undertaken after sex assignment to ensure congruent bodily appearance and function. Genital reconstruction in these patients can be daunting with varied outcome. Understanding these outcomes is imperative, more especially in a developing country where added challenges exist. Read More

Reprod Domest Anim 2019 Mar 23. Epub 2019 Mar 23.

Department of Biology and Genetics, University of Veterinary Medicine and Pharmacy, Košice, Slovak Republic.

An 8-month-old female Staffordshire bull terrier was clinically examined because of external sexual organs abnormality-clitoral hypertrophy. As stated by the owner, the female dog had not been in heat yet. Serum profile of testosterone (3. Read More

BJU Int 2019 Feb 18. Epub 2019 Feb 18.

Unité de Chirurgie Viscérale et Urologique Pédiatrique, Hôpital Lapeyronie - CHU Montpellier, Montpellier, France.

Objectives: To report the clinical spectrum of genital defects diagnosed before birth, identify predictive factors for severe phenotypes at birth, and determine the rate of associated malformations.

Patients And Methods: A retrospective study (2008-2017) of 4580 fetuses, identified prenatally with abnormalities evaluated by our Reference Center for Fetal Medicine, included cases with fetal sonographic findings of abnormal genitalia or uncertainty of fetal sex determination. Familial, prenatal and postnatal data were collected via a standardised questionnaire. Read More

Indian J Endocrinol Metab 2018 Nov-Dec;22(6):774-779

Department of Pediatrics and Neonatology, Sher-I-Kashmir Institute of Medical Sciences Hospital, Srinagar, Jammu and Kashmir, India.

Objective: Disorders of sex development (DSD) constitutes a small but difficult and equally important area of endocrinology. It is often a social emergency as the decision regarding sex assignment in these cases is extremely disturbing and difficult to both families and healthcare professionals. Our study was devised to assess the clinical and chromosomal profile of patients with suspected DSD and classify them according to the new DSD consensus document. Read More

Sex Dev 2019 Feb 9. Epub 2019 Feb 9.

SRY-negative 46,XX testicular disorders of sex development (DSD) are very rare conditions. Recently, we identified a novel heterozygous NR5A1 mutation, p.Arg92Trp (c. Read More

J Proteomics 2019 Mar 12;194:112-124. Epub 2018 Dec 12.

Laboratory of Evolutionary and Adaptive Physiology - Institute of Life, Earth and Environment - University of Namur, 61 Rue de Bruxelles, B5000 Namur, Belgium.

Early-life represents a critically sensitive window to endocrine disrupting chemicals, potentially leading to long-term repercussions on the phenotype later in life. The mechanisms underlying this phenomenon, referred to as the Developmental Origins of Health and Disease (DOHaD), are still poorly understood. To gain molecular understanding of these effects, we exposed mangrove rivulus (Kryptolebias marmoratus) for 28 days post hatching (dph) to 4 and 120 ng/L 17-α-ethinylestradiol, a model xenoestrogen. Read More

Syst Biol Reprod Med 2019 Apr 14;65(2):105-120. Epub 2018 Dec 14.

b Division of Pharmacology and Toxicology , CSIR- Indian Institute of Chemical Technology , Hyderabad , India.

We aimed to survey the monogenic causes of disorders of sex development (DSD) and thereby its prevalence in India. This study revealed mutations resulting in androgen insensitivity syndrome, 5α-reductase type 2 deficiency, and gonadal dysgenesis were commonly reported. Intriguingly, AR deficits were the most prevalent (32 mutations) and of 11/26 missense mutations were in exons 4-8 (encoding ligand binding domain). Read More

Int Urol Nephrol 2019 Mar 13;51(3):395-399. Epub 2018 Dec 13.

Department of Visceral Surgery, Faculty of Medicine, Children's Hospital Canastel, University of Oran, Oran, Algeria.

Purpose: To report current results of vaginoplasty using the mucosa of the prepuce, and creating labia minora by penile skin in children with disorders of sex development (DSD).

Methods: In 10 years, we have performed 22 vaginoplasties using the described technique of vaginoplasty, 21 patients with 46, XX DSD and 1 ovotesticular DSD. The assessment of the results of this technique of vaginoplasty was undertaken in several stages: (a) The evaluation of the cosmetic result. Read More

Curr Opin Endocrinol Diabetes Obes 2019 Feb;26(1):54-59

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

Genomics 2018 Nov 13. Epub 2018 Nov 13.

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

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

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

Hum Mutat 2019 Feb 30;40(2):207-216. Epub 2018 Nov 30.

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

Braz J Biol 2019 Jul-Sep;79(3):548-551. Epub 2018 Oct 8.

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

J Pediatr Adolesc Gynecol 2019 Feb 21;32(1):74-77. 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

J Obstet Gynaecol 2019 Feb 22;39(2):281-283. Epub 2018 Sep 22.

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

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

J Pediatr Adolesc Gynecol 2019 Feb 24;32(1):21-26. 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

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

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

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

Gen Comp Endocrinol 2018 Oct 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

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

Pediatr Dev Pathol 2019 Jan-Feb;22(1):70-74. 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

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

Urology 2018 Jun 13;116:176-179. Epub 2018 Mar 13.

Pediatric Urology and Regenerative Medicine Research Center, Section of Tissue Engineering and Stem Cells Therapy, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Hermaphroditism is known as ovotesticular disorder of sex development. A 14-year-old boy was admitted with right acute scrotum. Exploration revealed tunica rupture and hematoma, with no viable tissue. Read More

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

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

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

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

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.

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

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

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

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

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.

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

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

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

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

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

J Pediatr Endocrinol Metab 2017 Aug;30(8):899-904

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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

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

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

J Med Genet 2017 10 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

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

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

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

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

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