A novel variant luteinizing hormone receptor in the first transmembrane helix of two homozygous Iranian patients: case report

Abstract Background Leydig cell hypoplasia (LCH) is a rare autosomal recessive endocrine syndrome that affects the normal development of male external genitalia in 46, XY individuals and one causes disorder sexual differentiation (DSD) males. The responsible gene LCH LHCGR which located on chromosome 2 its various mutations lead to different degrees disease ranging from micropenis complete DSD. Case presentation In this study, we have investigated clinical molecular findings two siblings with This first detailed report Iran. It aimed study characteristics sisters type 1 LCH. Whole exome sequencing was used for these patients find underlying genetic cause disease. Our Iranian DSD had (normal labia major minor, opening urethra beneath clitoris) bilateral testicular tissues inguinal region, were removed by surgical exploration. Conclusions Genetic showed homozygous variants patients, novel duplication variant exon 11, c.1091dupT -or pLeu365Profs*5. mutation described as likely pathogenic. We think case can widen genotypic spectrum variants. Moreover, emphasizes significant rule Exome Sequencing differentiating differentiation.