Authors

Imen Ben Hadj Hmida, Ph.D., Soumaya Mougou-Zerelli, M.D., Ph.D., Anis Hadded, M.D., Sarra Dimassi, M.D., Ph.D., Molka Kammoun, M.D., Ph.D., Joelle Bignon-Topalovic, B.Sc., Mohamed Bibi, M.D., Ali Saad, M.D., Ph.D., Anu Bashamboo, Ph.D., Ken McElreavey, Ph.D.

Abstract

Objective

To determine the genetic cause of 46,XY primary amenorrhea in three 46,XY girls.

Design

Whole exome sequencing.

Setting

University cytogenetics center.

Patient(s)

Three patients with unexplained 46,XY primary amenorrhea were included in the study.

Intervention(s)

Potentially pathogenic variants were confirmed by Sanger sequencing, and familial segregation was determined where parents' DNA was available.

Main Outcome Measure(s)

Exome sequencing was performed in the three patients, and the data were analyzed for potentially pathogenic mutations. The functional consequences of mutations were predicted.

Result(s)

Three novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene were identified:c.1573 C→T, p.Gln525Ter, c.1435 C→T p.Arg479Ter, and c.508 C→T, p.Gln170Ter.

Conclusion(s)

Inactivating mutations of the LHCGR gene may be a more common cause of 46,XY primary amenorrhea than previously considered.

Read the full text at: http://www.fertstert.org/article/S0015-0282(16)300...