Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors

Cools, Martine; Looijenga, Leendert H. J.; Wolffenbuttel, Katja P.; Drop, Sten L. S.

doi:10.1007/s12519-009-0020-7

Cited by 68 publications

(91 citation statements)

References 46 publications

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“…Gonadectomy may be indicated post-puberty because of the high incidence of testicular neoplasms in undescended testicles. However, as noted by Cools et al (2009) the risk of germ cell tumors in CAIS patients is extremely low, and a more conservative approach to gonadectomy may be recommended.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family

Bk¹,

Ding²,

Xd³

et al. 2011

Genet. Mol. Res.

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ABSTRACT. We studied a family with two cousins who were diagnosed with complete androgen insensitivity syndrome, an X-linked disorder caused by mutations in the androgen receptor gene. A pedigree analysis and a molecular study using PCR and DNA sequencing clarified each female family member's androgen receptor status and revealed a mutation consisting of the deletion of exon 2 and surrounding introns of the androgen receptor gene. Based on the relative nucleotide positions, we concluded that the deletion mutation in exon 2 and its surrounding introns was approximately 6000 to 7000 bp. This mutation, never previously fully characterized using DNA sequencing, was responsible for complete androgen insensitivity syndrome in this family. Pedigree analysis with a molecular study of the androgen receptor gene in affected families facilitates genetic counseling provided to family members.

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family

Bk¹,

Ding²,

Xd³

et al. 2011

Genet. Mol. Res.

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“…. The prolonged expression of OCT3/4 is believed to be one of the crucial factors in GCT development as it allows germ cells to survive and proliferate [Cools et al, 2009]. Thanks to its similar function and temporospatial expression pattern, NANOG supposedly has the same impact on tumorigenesis as OCT3/4.…”

Section: Pathogenesis Of Germ Cell Tumors In Dsdmentioning

confidence: 99%

Tumor Risk in Disorders of Sex Development

Pleskacova

Hersmus

Oosterhuis

et al. 2010

Sex Dev

162

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Certain patients with disorders of sex development (DSD), who bear Y chromosome material in their karyotype, are at increased risk for the development of type II germ cell tumors (GCT), which arise from early fetal germ cells. DSD gonads frequently harbor immature germ cells which express early fetal germ cell markers. Some of them (e.g. OCT3/4 and NANOG) seem to be of pathogenetic relevance in GCT development providing cells with the ability of pluripotency, proliferation and apoptosis suppression. Also TSPY (testis-specific protein Y-encoded), the main candidate for the so-called gonadoblastoma locus on Y chromosome, is overexpressed in germ cells of DSD patients and possibly contributes to their survival and proliferation. Nowadays, the use of immunohistochemical methods is highly relevant in identifying DSD gonads at risk. The risk for GCT development varies. While the prevalence of GCT is 15% in patients with partial androgen insensitivity, it may reach more than 30% in patients with gonadal dysgenesis. Patients with complete androgen insensitivity and ovotesticular DSD develop malignancies in 0.8% and 2.6% of cases, respectively. However, these data may be biased for various reasons. To better estimate the risk in individual groups of DSD, further investigations on large patient series are needed.

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“…4. Hormone replacement therapy is needed at puberty irrespective of the gender of rearing due to the high risk in these cases of developing germ-cell tumors from the dysgenetic gonads [141,143,147,148].…”

Section: Xy Dsd With Typical Female External Genitalia At Birthmentioning

confidence: 99%

“…3. Although hormone replacement treatment (with estrogens) is needed at the time of gonadectomy [105], androgen resistance makes testosterone replacement untenable [147,148].…”

Section: Xy Dsd With Typical Female External Genitalia At Birthmentioning

confidence: 99%

“…In particular, regarding the latter, it is unknown whether early testosterone therapy and orchidopexy would result in a more favorable outcome [168]. Consequently, female gender assignment may be appropriate in some situations; regular testicular evaluation is required for those reared male who have not had their testes removed [147].…”

Section: -Beta-hsd-3 Deficiencymentioning

confidence: 99%

See 1 more Smart Citation

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

Fisher

Ristori

Fanni

et al. 2016

J Endocrinol Invest

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Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors

Cited by 68 publications

References 46 publications

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family

Tumor Risk in Disorders of Sex Development

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

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