A clinico‐genetic investigation of Leydig cell hypoplasia
- 1 February 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 26 (2) , 337-344
- https://doi.org/10.1002/ajmg.1320260212
Abstract
We report on a kindred including a patient (46,XY) with typical manifestations of Leydig cell hypoplasia who was born to parents who were first cousins. A sister had secondary amenorrhea possibly due to primary ovarian dysfunction. Analysis of six pedigrees fits to a male‐limited autosomal recessive pattern of inheritance; its implication for the mutational dynamics in the populations is evaluated.Keywords
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