from Wiktionary, Creative Commons Attribution/Share-Alike License
- n. An intersex condition of XY individuals where both testes are absent at birth.
from WordNet 3.0 Copyright 2006 by Princeton University. All rights reserved.
- n. absence of one of both testes
Sorry, no etymologies found.
Philibert P, Zenaty D, Lin L, et al. Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
This is consistent with incomplete penetrance of NR5A1 mutations present in 46, XY dizygotic twins with disorders of sex development: one boy presented with anorchia, and the other had normal testicular development.
In one published familial case, the mother of a 46, XY boy with anorchia who also harbored a p. Val355Met mutation in NR5A1 underwent left ovariectomy and homolateral fallopian tube ablation for ovarian cysts at the age of 22 years and subsequently had two spontaneous miscarriages, an outcome that suggests impaired ovarian function.
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