A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia.

Amine Aktar KarakayaEdip UnalAslı BeştaşFunda Feryal TaşHüseyin OnayYusuf Kenan Haspolat

Published in: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology (2020)

In patients presenting with primary amenorrhea and karyotype 46, XY, there is no testosterone synthesis and if there is LH elevation, LCH should be considered. We found a novel variant in the LHCGR gene in three siblings with karyotype 46, XY and female phenotype.

Keyphrases

copy number
genome wide
intellectual disability
genome wide identification
single cell
cell therapy
stem cells
replacement therapy
gene expression
mesenchymal stem cells
transcription factor