hrp0092s11.1 | Recent Advances in our Understanding of Hypogonadotrophic Hypogonadism | ESPE2019

Novel Insights into Developmental Pleiotropy From Genetic Studies in Kallmann Syndrome

Balasubramanian Ravikumar

Defects in the specification, migration and/or function of Gonadotropin-releasing hormone (GnRH) neurons gonadotropin-releasing hormone result in Kallmann Syndrome (KS), a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia (lack of sense of smell). To identify new molecular causes of KS, we performed a systematic genetic interrogation via whole exome sequencing of KS families. Autosomal dominant loss-of-function mutations in TCF12, a transcription...

hrp0095p1-347 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital hypogonadotropic hypogonadism and Cornelia de Lange Syndrome share clinical phenotype and genetic background

Kolesinska Zofia , Xu Cheng , Messina Andrea , Acierno James , Niederlander Nicolas , Santoni Federico , Papadakis Georgios , Pignatelli Duarte , Avbelj Stefanija Magdalena , Smith Kimberly Keefe , Balasubramanian Ravikumar , Crowley William , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...