Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor β (ESR2)

This case report describes a 16 year old girl with 46,XX karyotype, no pubertal development and streak gonads. The girl was 150 cm tall and had closed epiphyses and osteoporosis. Genetic investigation by whole exome sequencing showed a loss-of-function mutation in the Estrogen Receptor β gene...