Un caso de desorden del desarrollo sexual en un canino mestizo

The disorders of sex development can occur in different domestic animals, but they are not very common. They are classified as sex chromosomic disorders, gonadal sex development disorders andphenotypic sex disorders and have different subcategories. The aim of this study was to describe the phenotypic, chromosomal and anatomical traits of the reproductive organs of a canine patient 3-year-old, apparently female with disorder of sexual development, which presented a protuberance into the vagina with bleeding andpus, which anamnesis male behavior report. A general examination was performed by systems, ventral abdominal ultrasound,latero-lateral radiography, blood count and karyotype whit R-replicative bands. After the evaluation found an enlarged clitoris (pseudopene) with urethral opening that showed resistance to placing a catheter. Radiography showed a structure similar to penis bone and the ultrasonography a structure consistent with the cervix in a female and a structure similar to gonadal tissue in the side. The karyotype was typical of a male, compatible with a male pseudo-hermaphrodite, which classifies the individual as XY with a phenotypic disorder of sex development (78, XY) according to the new classification. With the diagnostic tools found in Colombia is possible to make an appropriate differential diagnosis. But nevertheless, lack of availability of specific diagnostic tests such as FISH and serological measurements.

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Shifting syndromes: Sex chromosome variations and intersex classifications

Social Studies of Science ◽

10.1177/0306312718757081 ◽

2018 ◽

Vol 48 (1) ◽

pp. 125-148 ◽

Cited By ~ 13

Author(s):

David Andrew Griffiths

Keyword(s):

Lived Experience ◽

Classification System ◽

Consensus Statement ◽

Sex Chromosome ◽

Disorders Of Sex Development ◽

Current Drive ◽

Medical Community ◽

New Classification ◽

Sex Development

The 2006 ‘Consensus statement on management of intersex disorders’ recommended moving to a new classification of intersex variations, framed in terms of ‘disorders of sex development’ or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter’s syndromes should be included. This article explores initial descriptions of Turner and Klinefelter’s syndromes and their subsequent inclusion in intersex classifications, which were increasingly grounded in scientific understandings of sex chromosomes that emerged in the 1950s. The article questions the current drive to stabilize and ‘sort out’ intersex classifications through a grounding in genetics. Alternative social and historical definitions of intersex – such as those proposed by the intersex activists – have the potential to do more justice to the lived experience of those affected by such classifications and their consequences.

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Proximal Hypospadias Repair Outcomes in Patients with a Specific Disorder of Sexual Development Diagnosis

Advances in Urology ◽

10.1155/2012/708301 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 6

Author(s):

Blake W. Palmer ◽

William Reiner ◽

Brad P. Kropp

Keyword(s):

Sexual Development ◽

Disorders Of Sex Development ◽

Hypospadias Repair ◽

Urethral Meatus ◽

Proximal Hypospadias ◽

Sex Development ◽

Disorder Of Sexual Development ◽

Increased Risk ◽

The Mean ◽

Contemporary Study

Boys with undermasculinized external genital and/or 46,XY disorders of sex development (DSD) often receive masculinizing genitoplasty. Such procedures are done to correct ventral curvature of the phallus, reposition a proximally located urethral meatus, and cosmetically correct the appearance of labioscrotal folds. No studies to date have assessed if patients with a specific DSD diagnosis have worse outcomes for severe proximal hypospadias procedures or whether or not these patients require more extensive surgical maneuvers than severe proximal hypospadias patients without a specific DSD diagnosis. We retrospectively reviewed consecutive proximal hypospadias repairs performed at our institution from 1998 to 2010 and compared the anatomy, surgical technique required for repair, and outcomes in patients with and without a definitive DSD diagnosis. Boys with a specific DSD diagnosis do have significantly more atypical anatomy when undergoing proximal hypospadias masculinizing genitoplasties. They are more likely to require associated gonad procedures but do not have an increased risk of complications or number of surgeries when compared to other proximal hypospadias patients without a specific DSD diagnosis. The risk of complications is consistent with reports in the literature, and the mean number of procedures in this contemporary study is fewer than in historic reports.

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Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation

International Journal of Molecular Sciences ◽

10.3390/ijms21072282 ◽

2020 ◽

Vol 21 (7) ◽

pp. 2282 ◽

Cited By ~ 4

Author(s):

Nathalia Lisboa Gomes ◽

Tarini Chetty ◽

Anne Jorgensen ◽

Rod T Mitchell

Keyword(s):

Fertility Preservation ◽

Gene Networks ◽

Disorders Of Sex Development ◽

Gonadal Development ◽

Testicular Development ◽

Clear Understanding ◽

Sex Development ◽

Future Fertility ◽

The Individual ◽

The Impact

Disorders (or differences) of sex development (DSD) are a heterogeneous group of congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired gonadal development is central to the pathogenesis of the majority of DSDs and therefore a clear understanding of gonadal development is essential to comprehend the impacts of these disorders on the individual, including impacts on future fertility. Gonadal development was traditionally considered to involve a primary ‘male’ pathway leading to testicular development as a result of expression of a small number of key testis-determining genes. However, it is increasingly recognized that there are several gene networks involved in the development of the bipotential gonad towards either a testicular or ovarian fate. This includes genes that act antagonistically to regulate gonadal development. This review will highlight some of the novel regulators of gonadal development and how the identification of these has enhanced understanding of gonadal development and the pathogenesis of DSD. We will also describe the impact of DSDs on fertility and options for fertility preservation in this context.

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Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life

Endocrine Reviews ◽

10.1210/er.2019-00049 ◽

2019 ◽

Vol 40 (6) ◽

pp. 1547-1572 ◽

Cited By ~ 8

Author(s):

Amy B Wisniewski ◽

Rafael L Batista ◽

Elaine M F Costa ◽

Courtney Finlayson ◽

Maria Helena Palma Sircili ◽

...

Keyword(s):

Quality Of Life ◽

Sexual Function ◽

Clinical Care ◽

Disorders Of Sex Development ◽

Morbidity And Mortality ◽

Diagnostic Tools ◽

Patient Registries ◽

Sex Development

Abstract Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual’s sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensus meeting in 2006. The aims of this paper are to review what is known about morbidity and mortality, diagnostic tools and timing, sex of rearing, endocrine and surgical treatment, fertility and sexual function, and quality of life in people with 46,XY DSD. The role for interdisciplinary health care teams, importance of establishing a molecular diagnosis, and need for research collaborations using patient registries to better understand long-term outcomes of specific medical and surgical interventions are acknowledged and accepted. Topics that require further study include prevalence and incidence, understanding morbidity and mortality as these relate to specific etiologies underlying 46,XY DSD, appropriate and optimal options for genitoplasty, long-term quality of life, sexual function, involvement with intimate partners, and optimizing fertility potential.

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