The gonads of 111 South African patients with ovotesticular disorder of sex differentiation

Wiersma, R.; Ramdial, Pratistadevi K.

doi:10.1016/j.jpedsurg.2008.08.013

Cited by 61 publications

(25 citation statements)

References 11 publications

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“…The prevalence of OT DSD is particularly high in Black South Africans [2]. Wiersma and Ramdial [3] reported that more than half of the number of patients (51%) presenting to a single paediatric surgical unit in KwaZulu-Natal (KZN) (Durban) had OT DSD. We recently reported that 22% of the patients with DSD attending a tertiary endocrine unit in KZN had OT DSD [4].…”

Section: Introductionmentioning

confidence: 99%

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

et al. 2017

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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. The most common karyotype was 46,XX (88%; n = 56), followed by 46,XY (8%), 46,XY/45,X (3%), and 46,XX/46,XY (1%). The median age at presentation was 7 months (0.5 months to 5.1 years). Sixty-one of the subjects (95%) presented with DSD. The ovotestis was the most frequent gonad (56%), followed by the ovary (23%) and the testis (16%). Testes were more commonly located on the right and ovaries on the left (p < 0.0001). The male gender was the predominant sex of rearing in two-thirds of the subjects. Gender dysphoria was noted in 8 subjects (11%) at a median of 6.4 (4.3–9.3) years. Long-term follow-up (n = 14) revealed spontaneous puberty in 5 subjects, gender dysphoria in 2 subjects, and neuropsychiatric disorders in 4 subjects. Conclusion: OT DSD is an important differential diagnosis in Black South Africans with 46,XX DSD.

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Section: Introductionmentioning

confidence: 99%

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

et al. 2017

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“…However, all studies agree that 46,XX is the most common karyotype observed in blood samples, ranging from ∼ 65 to 90% [Verkauskas et al, 2007;Wiersma and Ramdial, 2009;Matsui et al, 2011]. The remaining cases carry a Y chromosome (46,XY, 46,XX/46,XY or other mosaicisms), which explains the development of testicular tissue.…”

Section: XX Ovotesticular and Testicular Dsdmentioning

confidence: 95%

Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects

Grinspon

Rey

2016

Sex Dev

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Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known as 46,XX ovotesticular DSD. Testicular tissue differentiation may be due to the translocation of SRY to the X chromosome or an autosome. In the absence of SRY, overexpression of other pro-testis genes, e.g. SOX family genes, or failure of pro-ovarian/anti-testis genes, such as WNT4 and RSPO1, may underlie the development of testicular tissue. Recent experimental and clinical evidence giving insight into SRY-negative 46,XX testicular or ovotesticular DSD is discussed.

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“…These were the globular looking mixed (89%) ovotestis and the bipolar ovotestis (11%). Histopathologically the ovotestes were divisible into three different histological patterns, two types of mixed and a bipolar ovotestis [5]. (a) The admixed ovotestis consisted of an outer mantle of ovarian tissue of variable thickness, surrounding a central core of stroma, containing scattered foci of ovarian and testicular tissue of different sizes.…”

Section: Studymentioning

confidence: 99%

The gonads of 111 South African patients with ovotesticular disorder of sex differentiation

Cited by 61 publications

References 11 publications

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects

The Clinical Spectrum and Treatment of Ovotesticular Disorder of Sexual Development

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