Gonadal Dysgenesis And Gonadoblastoma In Cryptoph-Thalmos Syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1984-04

AUTHORS

Frank Greenberg, Bruce Keenan, Viamny De Yanis, Milton J Finegold

ABSTRACT

Cryptophthalmos syndrome is a presumed autosomal recessively inherited complex of malformations including fusion of the eyelids, microphthalmia, projection of the hair on the lateral forehead, notching of the alae nasi, cardiac defects, and genital abnormalities. Bilateral inguinal masses were noted in a phenotypic female with features of the cryptophthalmos syndrome. Peripheral blood chromosome analyses revealed 46,XX, in 41 cells. Serum testosterone and androstenedione which were both less than 25 ng/dl, rose to the adult female range after HCG administration. Frozen section of the biopsied right mass revealed numerous primary oocytes and some follicular development. Microscopic examination of the left mass revealed numerous primary follicles, some with prominent granulosa cells and multiple oocytes. Some follicles were distorted with evidence of gonadoblastoma in situ. There were also numerous accessory tubules of Wolffian origin appended to the ovary. Gonadoblastoma arising from dysgenetic gonads, not previously reported in this syndrome, rarely occurs in the absence of a Y chromosome containing cell line. In our patient, there was no additional evidence of Y chromosomal mosaicism nor Y-specific DNA. The presence of this tumor in our patient tends to contradict the prevailing Y chromosomal theory of the etiology of gonadoblastoma, but may support a recent hypothesis based on dysfunction of gonadal maturational process. More... »

PAGES

305-305

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-198404001-01275

DOI

http://dx.doi.org/10.1203/00006450-198404001-01275

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1033028904


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