Disorders of Sex Development

Cools, Martine; Köhler, Birgit

doi:10.1002/9781119152712.ch4

Cited by 6 publications

(6 citation statements)

References 104 publications

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“…OT-DSD is the histological presence of both ovarian and testicular tissue in an individual, existing either separately or together within an ovotestis [ 2 ]. The most common gonad is an ovotestis, which was found in the index case [ 5 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

“…Karyotypes of patients with OT-DSD show marked variation with the commonest being 46, XX in most reported studies, while 46, XY, and other chimeric/mosaic forms are relatively uncommon [ 5 , 8 ]. In some patients with a 46, XX karyotype, the testicular tissue results from translocation of the SRY gene to the X chromosome or another chromosome [ 2 ]. The index patient had a 46, XX karyotype, but we were unable to carry out an SRY FISH analysis due to financial constraints.…”

Section: Discussionmentioning

confidence: 99%

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Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings

Asafo-Agyei,

Ameyaw,

Nimako

et al. 2024

Case Reports in Endocrinology

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Differences in sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Ovotesticular DSD is the rarest variant of DSD where both ovarian and testicular tissues co-exist in an individual. Ambiguous genitalia may be a glaring indicator of DSD, but multiple genital anomalies should also raise a suspicion of DSD. This is a case report of a 15-year-6-month-old boy who presented during infancy with multiple genital anomalies requiring surgery. The diagnosis of ovotesticular DSD was missed until later in adolescence when he presented with progressive bilateral breast enlargement. Work-up revealed a 46, XX karyotype and dysgenetic testes, but functional ovarian tissue. The patient wanted to consider switching to a female gender but was constrained by psychosocial factors. Maintenance of a masculine phenotype was done using testosterone injections due to the relatively high cost of testosterone patches. Conclusion. Multiple genital anomalies should raise the suspicion of DSD, and prompt referral to an endocrinologist should be done before urogenital surgery and gender assignment are carried out.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings

Asafo-Agyei,

Ameyaw,

Nimako

et al. 2024

Case Reports in Endocrinology

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“…A testicularized gonadal phenotype with greater Sertoli cell and Leydig cell function is associated with a virilized genital phenotype, while a less differentiated gonad is more likely associated with nonvirilized genitalia [ 12 ]. The studies by Huang et al [ 13 ], Telvi et al [ 7 ], and Matsumoto et al [ 6 ] had the consistent observations that individuals with 45,X/46,XY karyotype and female phenotype most likely have intra-abdominal streak gonads or streak ovaries.…”

Section: Discussionmentioning

confidence: 99%

A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism

Wong,

Tam

et al. 2023

Cureus

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Disorders of sex development (DSD) are caused by defects in the complex sexual differentiation cascade, resulting in discordance among an individual's genetic, gonadal, and genital sexes. It affects one in 4,500 live births. A wide spectrum of genital phenotypes can be found depending on the underlying pathogenic mechanism and the developmental stage that is affected. We herein report a newborn with female external genitalia but palpable gonads at labia majora with normal testicular function and structure, which is typical of complete androgen insensitivity syndrome (CAIS). The genetic study revealed 45,X/46,XY mosaicism and c.2081A>C missense androgen receptor gene mutation, indicating the likelihood of co-existing CAIS. This case demonstrated the importance of correlating genital phenotype and the underlying pathogenic mechanism, to provide appropriate management of DSD. Important considerations on managing the gonads about the risks of gonadal malignancies are also discussed.

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“…The general approach toward a child who has a DSD has been reviewed elsewhere. For parents of a newborn with atypical genitalia, an efficient and targeted diagnostic plan, extensive information, and adequate psychosocial support are the cornerstones of neonatal management [2, 41, 42]. The vast majority of virilized 46,XX neonates will have congenital adrenal hyperplasia, but the presence of 1 or 2 labioscrotal or inguinal gonads, a hemiuterus on ultrasound, or a normal adrenal steroid profile should raise suspicion of ovotesticular DSD [43].…”

Section: Genetic Background Of Ovotesticular Dsdmentioning

confidence: 99%

“…Unscheduled variations in the spatiotemporal expression or dosage of these genes can lead to simultaneous activation of both pathways and hence ovotesticular development [1]. Ovotesticular disorder/difference of sex development (DSD), previously called true hermaphroditism, refers to the situation where functional ovarian and testicular tissue co-exist in one individual, either as ovotestes or as asymmetrically developed gonads [2]. The karyotype is almost always 46,XX, or rarely 46,XX/46,XY (chimerism) or 46,XX/47,XXY [3].…”

Section: Introductionmentioning

confidence: 99%

Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical Management

2021

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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. Various underlying genetic mechanisms have been described. Histological assessment of ovotestes requires expert revision and has many pitfalls. Neonatal sex assignment is essential, but as gender outcome is unpredictable, this should be regarded as provisional until a stable gender identity has developed. Therefore, it is crucial not to perform any irreversible medical or surgical procedure in affected individuals until adolescents can give their full informed consent. Gonadal function mostly allows for spontaneous pubertal development; however, fertility is compromised, especially in boys. Specific long-term outcome data for ovotesticular DSD are lacking but can be extrapolated from studies in other DSD populations. Key Messages: Management of ovotesticular DSD has changed in recent years, prioritizing the child’s future right for autonomy and self-determination. The benefits and pitfalls of this new approach have not been documented yet and require intensive monitoring on an international scale.

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Disorders of Sex Development

Cited by 6 publications

References 104 publications

Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings

Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings

A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism

Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical Management

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