46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'

Hamin, Jarna Naing; Arkoncel, Francis Raymond P.; Lantion-Ang, Frances Lina; Sandoval, Mark Anthony

doi:10.1136/bcr.12.2010.3626

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Cited by 4 publications

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“…These persons with a hernia sac and bowel loops were found with duct derivatives also testes ( 11 ). “The patient reported herein represents sporadic and incomplete form of the XY gonadal dysgenesis syndrome” ( 12 ).…”

Section: Discussionmentioning

confidence: 99%

A Case with late onset of ambiguous genitalia

Gargari

Azizi

Saleh

et al. 2017

IJRM

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Background:Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. Case: In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY genes were sequenced in both directions. No mutations were found in these genes either. Conclusion:It seems advisable to be cautious in similar cases, and revise protocol for tracing the genes involved in the patients.

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Section: Discussionmentioning

confidence: 99%